AiPD: Autoinhibited Protein Database

P35222

Gene name	CTNNB1 (CTNNB, OK/SW-cl.35, PRO2286)
Protein name	Catenin beta-1
Names	Beta-catenin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1499
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-144 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-144 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

37 structures for P35222

Entry ID	Method	Resolution	Chain	Position	Source
1G3J	X-ray	210 A	A/C	133-664	PDB
1JDH	X-ray	190 A	A	135-663	PDB
1JPW	X-ray	250 A	A/B/C	131-670	PDB
1LUJ	X-ray	250 A	A	150-663	PDB
1P22	X-ray	295 A	C	19-44	PDB
1QZ7	X-ray	220 A	A	133-665	PDB
1T08	X-ray	210 A	A	146-664	PDB
1TH1	X-ray	250 A	A/B	133-664	PDB
2G57	NMR	-	A	19-44	PDB
2GL7	X-ray	260 A	A/D	138-686	PDB
2Z6H	X-ray	220 A	A	138-781	PDB
3DIW	X-ray	210 A	C/D	772-781	PDB
3FQN	X-ray	165 A	C	30-39	PDB
3FQR	X-ray	170 A	C	30-39	PDB
3SL9	X-ray	220 A	A/B/E/G	141-305	PDB
3SLA	X-ray	250 A	A/B/C/D/E	141-306	PDB
3TX7	X-ray	276 A	A	138-663	PDB
4DJS	X-ray	303 A	A	148-665	PDB
6M90	X-ray	205 A	C	17-48	PDB
6M91	X-ray	240 A	C	17-48	PDB
6M92	X-ray	235 A	C	17-48	PDB
6M93	X-ray	250 A	C	17-48	PDB
6M94	X-ray	270 A	C	17-48	PDB
6O9B	X-ray	220 A	C	41-49	PDB
6O9C	X-ray	245 A	C	41-49	PDB
6WLX	X-ray	220 A	B	671-677	PDB
6WNX	X-ray	250 A	C/F/I	31-39	PDB
7AFW	X-ray	181 A	A	141-305	PDB
7AR4	X-ray	260 A	AAA	134-665	PDB
7UWI	X-ray	232 A	A	143-663	PDB
7UWO	X-ray	275 A	A	134-665	PDB
7ZRB	X-ray	343 A	A/B	133-664	PDB
8EI9	X-ray	390 A	A	134-665	PDB
8EIA	X-ray	360 A	A	134-665	PDB
8EIB	X-ray	376 A	A	134-665	PDB
8EIC	X-ray	262 A	A	134-665	PDB
AF-P35222-F1	Predicted				AlphaFoldDB

505 variants for P35222

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA16602676 COSM5747 rs121913394 RCV000419765	13	A>T	oesophagus Melanoma stomach [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000786916 CA352228024 rs1575315288 COSM49161	15	E>K	Severe intellectual disability-progressive spastic diplegia syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM5738 rs121913395 CA16602677 RCV000430055	21	A>T	Melanoma Variant assessed as Somatic; impact. soft_tissue stomach [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000440292 rs121913416	22	V>missing	Melanoma [ClinVar]	Yes	ClinVar dbSNP
RCV000420898 rs77064436 CA16602679 COSM5706	22	V>A	thyroid large_intestine Melanoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs121913417 RCV000431125	25	W>missing	Melanoma [ClinVar]	Yes	ClinVar dbSNP
RCV000505548 rs1553630102	28	Q>H	Hepatoblastoma [ClinVar]	Yes	ClinVar dbSNP
RCV000439506 COSM5690 RCV000421851 RCV000428408 RCV000438648 VAR_017614 RCV000422917 CA16602682 rs121913396 RCV000429284 RCV000421005 RCV000433870 RCV000443906	32	D>A	Malignant neoplasm of body of uterus Medulloblastoma (mdb) liver NS Neoplasm of uterine cervix Melanoma central_nervous_system endometrium Hepatocellular carcinoma Gastric adenocarcinoma Prostate adenocarcinoma ovary pancreas Medulloblastoma Variant assessed as Somatic; impact. Malignant melanoma of skin hepatocellular carcinoma [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000433199 RCV000443060 RCV000437703 CA127265 RCV000417687 RCV000435333 RCV000443883 RCV000427896 COSM5681 rs121913396 RCV000087199 RCV000425010 RCV000427454 RCV000019140	32	D>G	Malignant neoplasm of body of uterus Medulloblastoma (mdb) NS Neoplasm of uterine cervix skin central_nervous_system Hepatocellular carcinoma stomach pancreas Variant assessed as Somatic; impact. soft_tissue pituitary cervix liver Melanoma endometrium urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung ovary Pilomatrixoma Medulloblastoma large_intestine prostate Malignant melanoma of skin [ClinVar, Ensembl, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000429774 RCV000439366 CA16602521 RCV000429157 RCV000421744 RCV000422380 RCV000419510 RCV000430427 rs28931588 COSM5668 RCV000440025 RCV000437131	32	D>H	pituitary Malignant neoplasm of body of uterus Medulloblastoma (mdb) NS liver Neoplasm of uterine cervix Melanoma endometrium urinary_tract central_nervous_system Hepatocellular carcinoma stomach Gastric adenocarcinoma testis Prostate adenocarcinoma ovary pancreas Medulloblastoma Variant assessed as Somatic; impact. prostate haematopoietic_and_lymphoid_tissue Malignant melanoma of skin [Cosmic, ClinVar, Ensembl, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000425710 CA16602681 RCV000431551 COSM5672 RCV000432187 rs28931588 RCV000438971 RCV000444402 RCV000421306 RCV002221234 RCV000441401 RCV000432497 RCV000444118 RCV000423696	32	D>N	pituitary Malignant neoplasm of body of uterus Medulloblastoma (mdb) biliary_tract liver Neoplasm of uterine cervix skin central_nervous_system endometrium Hepatocellular carcinoma stomach bone Gastric adenocarcinoma testis Prostate adenocarcinoma Endometrial neoplasm pancreas Medulloblastoma large_intestine Variant assessed as Somatic; impact. Esophageal squamous cell carcinoma prostate Malignant melanoma of skin [Cosmic, ClinVar, Ensembl, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
COSM5691 RCV000429141 RCV000434746 RCV000430242 CA16602683 RCV000418872 RCV000440497 RCV000423474 RCV000436415 RCV000439390 rs121913396 RCV000422753	32	D>V	pituitary Malignant neoplasm of body of uterus Medulloblastoma (mdb) liver Neoplasm of uterine cervix endometrium skin central_nervous_system Hepatocellular carcinoma Gastric adenocarcinoma testis Prostate adenocarcinoma Endometrial neoplasm pancreas Medulloblastoma Variant assessed as Somatic; impact. soft_tissue prostate Malignant melanoma of skin [Cosmic, ClinVar, Ensembl, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
COSM5661 RCV000437074 RCV000430774 RCV000418154 RCV000426839 CA127271 RCV000438170 RCV000128842 RCV000019144 RCV000426162 RCV000420526 rs28931588 RCV000441036 RCV000419388	32	D>Y	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Neoplasm of uterine cervix skin central_nervous_system Hepatocellular carcinoma stomach pancreas Variant assessed as Somatic; impact. soft_tissue Craniopharyngioma Hepatoblastoma pituitary liver endometrium urinary_tract bone Gastric adenocarcinoma Prostate adenocarcinoma lung ovary Pilomatrixoma Medulloblastoma large_intestine prostate Malignant melanoma of skin [ClinVar, Ensembl, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1057519886 RCV000443586 RCV000420132 RCV000423241 COSM5683 CA16602831 RCV000439171 RCV000441600 RCV000424341 RCV000433966 RCV000440476 RCV000428518 RCV000430905 RCV000433324	33	S>A	pituitary Malignant neoplasm of body of uterus Medulloblastoma (mdb) Carcinoma of esophagus liver endometrium central_nervous_system Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma pancreas Medulloblastoma Variant assessed as Somatic; impact. Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine Malignant melanoma of skin [Cosmic, ClinVar, Ensembl, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA16602684 RCV000420513 RCV000432570 COSM5677 RCV000441027 RCV000425323 RCV000431875 RCV000438635 RCV000441671 RCV000432807 RCV000444407 RCV000421624 rs121913400 RCV000430769 RCV000419399 RCV000429684 RCV000421237	33	S>C	Malignant neoplasm of body of uterus Medulloblastoma (mdb) NS skin central_nervous_system Hepatocellular carcinoma stomach testis Lung adenocarcinoma kidney Neoplasm of brain pancreas Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the parathyroid gland soft_tissue Neoplasm of the large intestine pituitary Carcinoma of esophagus biliary_tract liver endometrium bone Gastric adenocarcinoma parathyroid Prostate adenocarcinoma lung ovary oesophagus Medulloblastoma large_intestine prostate Neoplasm of ovary breast Malignant melanoma of skin [ClinVar, Ensembl, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000019148 RCV000439964 COSM5669 RCV000437352 RCV000438845 RCV000423964 RCV000443180 RCV000428161 RCV000418596 rs121913400 RCV000019147 RCV000434049 CA127275 RCV000421635 RCV000420986 RCV000505658	33	S>F	Malignant neoplasm of body of uterus Medulloblastoma (mdb) ADRENAL CORTICAL NEOPLASM skin central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma kidney pancreas Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue pituitary Carcinoma of esophagus liver urinary_tract endometrium bone Gastric adenocarcinoma Prostate adenocarcinoma lung ovary thyroid Pilomatrixoma Medulloblastoma large_intestine prostate Malignant melanoma of skin [ClinVar, Ensembl, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000434673 rs1057519886 COSM5682 RCV000426101 RCV000436119 RCV000442478 RCV000418863 CA16602830 RCV000443305 RCV000417825 RCV000426401 RCV000433600 RCV000425263 RCV000435028	33	S>P	pituitary Malignant neoplasm of body of uterus Medulloblastoma (mdb) Carcinoma of esophagus liver endometrium central_nervous_system skin Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma ovary pancreas Medulloblastoma large_intestine Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine Malignant melanoma of skin [Cosmic, ClinVar, Ensembl, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000435335 rs1057519886 RCV000427045 RCV000425706 RCV000437702 RCV000431206 COSM27311 RCV000420531 RCV000440157 CA16602832 RCV000432938 RCV000441880 RCV000418116 RCV000424580	33	S>T	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Carcinoma of esophagus liver Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Medulloblastoma Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine breast Malignant melanoma of skin [ClinVar, Ensembl, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000019138 RCV000435972 RCV000443834 RCV000424968 rs121913400 COSM5673 RCV000418289 RCV000019139 CA127263 RCV000435233 RCV000426112 RCV000437025 RCV000443472 RCV000444481 RCV000430278 RCV000423917 RCV000434171 VAR_017619	33	S>Y	Malignant neoplasm of body of uterus Medulloblastoma (mdb) central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue pituitary Carcinoma of colon Carcinoma of esophagus liver endometrium bone Gastric adenocarcinoma Prostate adenocarcinoma ovary Pilomatrixoma Endometrial neoplasm Medulloblastoma large_intestine prostate Malignant melanoma of skin colorectal cancer and PTR; constitutively active Wnt signaling pathway; enhances transactivation of target genes [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000427731 RCV000436689 RCV000442184 RCV000430157 RCV000442160 RCV000437750 CA16602829 RCV000427084 RCV000419447 rs28931589	34	G>A	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Adrenal cortex carcinoma Squamous cell carcinoma of the head and neck Medulloblastoma Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Malignant melanoma of skin [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000426491 RCV000439589 RCV000443977 RCV000019149 COSM5671 CA127277 RCV000433938 RCV000422250 RCV000443851 VAR_017620 RCV000423249 RCV000432939 RCV000434538 rs28931589	34	G>E	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Adrenal cortex carcinoma liver central_nervous_system skin endometrium Hepatocellular carcinoma stomach Gastric adenocarcinoma testis Lung adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary Pilomatrixoma Variant assessed as Somatic; 0.0 impact. Medulloblastoma large_intestine prostate Neoplasm of ovary Malignant melanoma of skin PTR [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
VAR_017621 CA16602686 RCV000438599 RCV000438776 COSM5686 RCV000436663 RCV000419419 RCV000438184 RCV000427501 rs121913399 RCV000426895 RCV000427907 RCV000444074 RCV000420040 RCV000430713 CA16602685 RCV000418083 COSM5684	34	G>R	Malignant neoplasm of body of uterus Adrenal cortex carcinoma Hepatocellular carcinoma Lung adenocarcinoma Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Medulloblastoma Malignant melanoma of skin pituitary Medulloblastoma (mdb) NS liver central_nervous_system endometrium skin bone stomach testis lung ovary Pilomatrixoma pancreas large_intestine Variant assessed as Somatic; impact. soft_tissue Craniopharyngioma hepatocellular carcinoma [ClinVar, Cosmic, Ensembl, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP UniProt
RCV000417805 RCV000429363 CA127273 VAR_017622 COSM5670 RCV000427137 RCV000437867 RCV000149120 RCV000418024 RCV000435058 RCV000425225 RCV000428985 RCV000436574 RCV000019146 RCV000418475 rs28931589	34	G>V	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Adrenal cortex carcinoma central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma pancreas Variant assessed as Somatic; impact. Craniopharyngioma Hepatoblastoma pituitary biliary_tract liver Melanoma endometrium bone Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck ovary Malignant tumor of prostate Medulloblastoma large_intestine prostate breast Malignant melanoma of skin hepatoblastoma [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
RCV000430984 RCV000435831 RCV000436705 RCV000435198 COSM5675 RCV000419464 RCV000430355 rs121913228 RCV000419658 RCV000424491 RCV000444358 CA16602688 RCV000426018	37	S>A	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Carcinoma of esophagus liver Neoplasm of uterine cervix central_nervous_system endometrium Hepatocellular carcinoma stomach Gastric adenocarcinoma parathyroid Lung adenocarcinoma small_intestine Prostate adenocarcinoma ovary Medulloblastoma large_intestine Variant assessed as Somatic; impact. Neoplasm of the parathyroid gland soft_tissue prostate [ClinVar, Ensembl, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
VAR_017625 RCV000423597 RCV000431366 RCV000441696 RCV000030945 RCV000430788 RCV000445258 RCV000432924 RCV000019141 RCV000421574 RCV000438791 RCV000422240 rs121913403 RCV000087195 CA127267 COSM5679	37	S>C	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Neoplasm of uterine cervix central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma pancreas Variant assessed as Somatic; impact. pituitary Carcinoma of esophagus biliary_tract liver adrenal_gland urinary_tract endometrium bone Gastric adenocarcinoma Prostate adenocarcinoma lung ovary Pilomatrixoma Medulloblastoma large_intestine Neoplasm of ovary PTR, hepatoblastoma and ovarian cancer [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000428583 RCV000425340 RCV000420061 RCV000445320 VAR_017626 RCV000436738 rs121913403 COSM5662 RCV002464070 CA127279 RCV000444520 RCV000437726 RCV000427490 RCV000433883 RCV000426489 RCV000442576 RCV000019151	37	S>F	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Lung cancer Neoplasm of uterine cervix skin central_nervous_system Hepatocellular carcinoma stomach testis Lung adenocarcinoma pancreas Variant assessed as Somatic; impact. soft_tissue pituitary cervix Carcinoma of esophagus biliary_tract liver Melanoma endometrium urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung ovary thyroid Pilomatrixoma oesophagus Medulloblastoma large_intestine Neoplasm of ovary PTR [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
COSM5687 RCV000431861 RCV000434676 RCV000423953 RCV000440535 RCV000443827 CA16602687 RCV000429643 RCV000440333 RCV000444541 RCV000423766 rs121913228 RCV000423296	37	S>P	pituitary Malignant neoplasm of body of uterus Medulloblastoma (mdb) Carcinoma of esophagus liver Neoplasm of uterine cervix Neoplasm of stomach endometrium central_nervous_system skin Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma pancreas Medulloblastoma large_intestine Variant assessed as Somatic; impact. [Cosmic, ClinVar, Ensembl, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA16602377 RCV000420492 RCV000430785 RCV000431858 RCV000441660 rs121913403 RCV000419361 COSM5666 RCV000432982 RCV000441059 RCV000438660 RCV000421620 RCV000429634 VAR_017627 RCV000420998	37	S>Y	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Carcinoma of esophagus liver Neoplasm of uterine cervix Neoplasm of stomach Melanoma skin central_nervous_system endometrium Hepatocellular carcinoma stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma ovary pancreas Medulloblastoma Variant assessed as Somatic; impact. soft_tissue breast hepatocellular carcinoma [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000433725 COSM5693 rs1057519836 CA16602690	40	T>A	liver large_intestine Neoplasm of stomach [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602693 COSM5708 RCV000436951 rs1057519837	40	T>I	thyroid Melanoma endometrium soft_tissue bone [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602689 RCV000425513 rs1057519836	40	T>P	Neoplasm [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1057519837 COSM29396 RCV000426279 CA16602692	40	T>S	Neoplasm central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602691 COSM29396 rs1057519836 RCV000444185	40	T>S	Neoplasm central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000431914 RCV000421675 CA127269 RCV000087196 RCV000019142 rs121913412 VAR_017629 RCV000019143 RCV000421001 RCV000430146 RCV000432978 RCV000419429 RCV000438649 COSM5664 RCV000440817	41	T>A	Malignant neoplasm of body of uterus Adrenal cortex carcinoma upper_aerodigestive_tract central_nervous_system skin Hepatocellular carcinoma stomach Lung adenocarcinoma small_intestine kidney pancreas Variant assessed as Somatic; impact. Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Hepatoblastoma pituitary biliary_tract liver adrenal_gland endometrium urinary_tract bone Prostate adenocarcinoma lung ovary large_intestine prostate breast Desmoid tumor caused by somatic mutation Malignant melanoma of skin hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000443038 RCV000422057 CA127281 RCV000436836 RCV000442963 RCV000432291 RCV000426659 rs121913413 RCV000442251 COSM5676 RCV000427656 RCV000019152	41	T>I	pituitary Malignant neoplasm of body of uterus Adrenal cortex carcinoma biliary_tract liver skin endometrium Hepatocellular carcinoma stomach bone Lung adenocarcinoma Prostate adenocarcinoma ovary thyroid Pilomatrixoma pancreas large_intestine Variant assessed as Somatic; impact. Pancreatic adenocarcinoma prostate soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Malignant melanoma of skin [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000435532 RCV000428037 CA16602833 RCV000430531 rs121913413 RCV000417888 COSM5730 RCV000420278 RCV000437888 RCV000422378 RCV000440036	41	T>N	Malignant neoplasm of body of uterus cervix Adrenal cortex carcinoma liver skin Hepatocellular carcinoma Lung adenocarcinoma Prostate adenocarcinoma Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Malignant melanoma of skin [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA2330861 RCV002527229 rs769203968 RCV000503885 RCV002527230 COSM5696	42	T>I	thyroid liver soft_tissue Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs587776850 RCV000019137 RCV000505566	45	S>missing	Carcinoma of colon Nephroblastoma [ClinVar]	Yes	ClinVar dbSNP
RCV000427795 COSM5685 rs121913407 RCV000420592 CA16602694	45	S>A	kidney Disease Neoplasm of brain liver large_intestine endometrium [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM5689 RCV000439152 RCV000437569 RCV000428521 RCV000439811 rs121913409 RCV000422624 RCV000420360 RCV000428312 CA16602695 RCV000417615 RCV000432444	45	S>C	Malignant neoplasm of body of uterus Adrenal cortex carcinoma Disease liver endometrium Hepatocellular carcinoma stomach Lung adenocarcinoma Prostate adenocarcinoma kidney large_intestine Variant assessed as Somatic; impact. soft_tissue Neoplasm of the large intestine Malignant melanoma of skin [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000019153 RCV000422910 RCV000436327 VAR_017631 RCV000418669 RCV000429593 RCV000440570 RCV000441643 RCV001374445 rs121913409 CA127283 COSM5667 RCV000423935 RCV000429678 RCV000505673 RCV000430307	45	S>F	Malignant neoplasm of body of uterus Adrenal cortex carcinoma Disease skin central_nervous_system Hepatocellular carcinoma stomach Lung adenocarcinoma kidney pancreas Variant assessed as Somatic; impact. soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue cervix biliary_tract liver adrenal_gland Melanoma urinary_tract endometrium Prostate adenocarcinoma Gallbladder cancer lung ovary large_intestine Nephroblastoma Malignant melanoma of skin hepatocellular carcinoma [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000439398 RCV000441996 RCV000427866 RCV000087197 RCV000423471 CA127285 RCV000019154 RCV000417674 RCV000428983 RCV000439866 VAR_017632 RCV000435313 rs121913407 COSM5663 RCV000422223	45	S>P	Malignant neoplasm of body of uterus Adrenal cortex carcinoma Disease skin Hepatocellular carcinoma Lung adenocarcinoma kidney pancreas Variant assessed as Somatic; impact. soft_tissue Neoplasm of the large intestine pituitary liver adrenal_gland Melanoma urinary_tract endometrium bone Prostate adenocarcinoma lung ovary thyroid large_intestine prostate Malignant melanoma of skin hepatocellular carcinoma [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000434843 RCV000435197 rs121913409 RCV000437572 RCV000444787 RCV000422850 COSM5692 CA16602378 RCV000427426 RCV000442079 RCV000424917 RCV000417587	45	S>Y	pituitary Malignant neoplasm of body of uterus Adrenal cortex carcinoma liver adrenal_gland Melanoma skin endometrium Hepatocellular carcinoma Lung adenocarcinoma Prostate adenocarcinoma kidney ovary Variant assessed as Somatic; impact. soft_tissue Neoplasm of the large intestine Malignant melanoma of skin [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
COSM1423027 COSM30736 RCV000361215 RCV001265460 rs886041553 CA10602900	66	W>*	Severe intellectual disability-progressive spastic diplegia syndrome large_intestine haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001265237 RCV001008327 rs1575315766	71	S>missing	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
CA10586151 RCV000234865 RCV001266683 RCV000760810 rs1369821061	90	R>*	Severe intellectual disability-progressive spastic diplegia syndrome Variant assessed as Somatic; impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
CA10588361 RCV000624646 RCV000256097 RCV000763110 rs775104326 RCV000415150	95	R>*	Severe intellectual disability-progressive spastic diplegia syndrome Medulloblastoma Variant assessed as Somatic; impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs2078141730 RCV001258339	102	T>*	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000519540 CA352229068 RCV000678281 rs1553630279	113	Q>*	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000995750 rs1575316657	157	T>missing	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1553630304 CA645372738 RCV000500221	159	L>M	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2078151677 RCV001260752	185	R>missing	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV000119827 rs587777412	236	G>missing	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000505560 CA352230110 rs1553630452 COSM188059	257	T>I	large_intestine Variant assessed as Somatic; impact. Nephroblastoma [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs2078159952 RCV001265702	263	L>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000624180 CA352230169 rs1553630472	266	Q>*	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2078160204 RCV001267116	269	A>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001253425 rs2078160335	271	M>missing	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001195546 rs2078160286	271	M>missing	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000987257 CA158232 RCV000886563 COSM5727 RCV002517580 RCV000120622 rs35288908	287	N>S	large_intestine Hepatocellular carcinoma Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1553630507 RCV000677414	289	T>missing	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001260498 rs2078162003	306	Y>F	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000032860 rs376393123 CA130431	309	Q>*	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP
RCV001260749 rs2078196892	315	I>missing	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs778624338 RCV000624466 RCV000522499 RCV001268411 RCV000987258 CA352231537 COSM480083	333	Y>*	kidney Hepatocellular carcinoma Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinVar dbSNP ClinGen cosmic curated ExAC gnomAD
RCV000985149 CA10602890 RCV000300794 COSM480083 rs886041281	333	Y>*	kidney Severe intellectual disability-progressive spastic diplegia syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001169957 rs1454068577	338	W>*	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000735215 rs1559470315	339	T>I	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000987259 rs1575320216	349	V>missing	Hepatocellular carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV001095731 rs2078356915	373	P>missing	CTNNB1-related syndromic intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV000623772 RCV001283821 CA352232153 rs1553631770	380	N>I	Exudative vitreoretinopathy 7 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553631783 RCV000623816	387	N>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
VAR_072282 rs1559474140 RCV000679959 CA352232278	388	L>P	Severe intellectual disability-progressive spastic diplegia syndrome NEDSDV [ClinVar, UniProt]	Yes	ClinGen ClinVar Ensembl dbSNP UniProt
CA279021 RCV000199502 rs863224864	424	L>R	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000032858 rs398122907	425	S>missing	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs2078362331 RCV001253306	432	Y>*	Colorectal cancer [ClinVar]	Yes	ClinVar dbSNP
RCV000678968 CA352232913 rs1559474364	433	K>*	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA352233254 RCV000505598 rs1553631848	458	E>D	Papillary renal cell carcinoma type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2078364837 RCV001252213	470	H>Y	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV000677408 RCV001092247 RCV002286777 rs1553631860 RCV003126902 CA352233471 RCV001260750 RCV001374918	474	R>*	Severe intellectual disability-progressive spastic diplegia syndrome Intellectual disability Variant assessed as Somatic; impact. Microcephalic primordial dwarfism, Alazami type Developmental disorder Neurodevelopmental disorder [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000495846 RCV000416683 rs1057519379	479	E>missing	Severe intellectual disability-progressive spastic diplegia syndrome Exudative vitreoretinopathy 1 [ClinVar]	Yes	ClinVar dbSNP
rs1553631896 RCV000987260 RCV000627529	499	H>missing	Hepatocellular carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000987261 rs1575330336	511	V>missing	Hepatocellular carcinoma [ClinVar]	Yes	ClinVar dbSNP
rs397514554 RCV002496492 RCV000255163 CA130428 RCV000032859	515	R>*	Severe intellectual disability-progressive spastic diplegia syndrome Medulloblastoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2078377820 RCV001265877	526	P>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000735236 CA352234198 rs1559474966	530	Q>*	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000984346 rs886039332 CA10588362 RCV001260751 RCV001335878 RCV000255131 RCV000495849	535	R>*	Exudative vitreoretinopathy 7 Severe intellectual disability-progressive spastic diplegia syndrome Intellectual disability Variant assessed as Somatic; impact. Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1131692181 CA352234498 RCV000495837	558	Q>*	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_079199	558	Q>del	NEDSDV; the patient also manifest features of exudative vitreoretinopathy [UniProt]	Yes	UniProt
CA204652 rs797044875 RCV002470806 RCV001852533 RCV000190686	575	G>R	Severe intellectual disability-progressive spastic diplegia syndrome Variant assessed as Somatic; impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000623506 rs1553632262	582	R>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000486133 rs1064796453 CA16617967 RCV001253207 RCV000624883	587	R>*	Severe intellectual disability-progressive spastic diplegia syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1575333081 RCV000851507	590	I>missing	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs2078435023 RCV001330863	610	I>missing	Exudative vitreoretinopathy 7 [ClinVar]	Yes	ClinVar dbSNP
RCV000624574 rs1553632352	617	V>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001267063 rs2078435846	624	D>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1553632357 CA352236244 RCV000626747	626	E>*	Imperforate anus [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1575334103 CA352236297 RCV000995751	634	E>*	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553632361 RCV000598918 RCV000624274 RCV001265236	642	E>missing	Severe intellectual disability-progressive spastic diplegia syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV003147435 rs750402920 CA10602905 RCV000329795	654	Y>*	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000494679 rs748294403 CA352236480 RCV000851495 RCV002463684	661	R>*	Severe intellectual disability-progressive spastic diplegia syndrome Global developmental delay [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV000681631 rs1559477241 CA352236811	692	E>D	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2078481368 RCV001330864	700	I>T	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000416748 rs748653573 RCV001853378 CA16044151 RCV000495850 VAR_079200	710	R>C	Exudative vitreoretinopathy 7 Exudative vitreoretinopathy 1 EVR7; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs1057519380 RCV000495836 CA16044152 RCV000416893	720	H>*	Exudative vitreoretinopathy 7 Exudative vitreoretinopathy 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1575339920 RCV000824816	758	H>missing	Severe intellectual disability-progressive spastic diplegia syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002540205 CA2331327 rs138501547 RCV000900930	772	N>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1310497035 CA352227918	2	A>G		No	ClinGen TOPMed gnomAD
CA352227914 rs1204596334	2	A>T		No	ClinGen TOPMed
CA2330839 rs749331498	3	T>N		No	ClinGen ExAC gnomAD
CA352227930 rs1575314399	4	Q>P		No	ClinGen Ensembl
rs1448779783 CA352227952	5	A>G		No	ClinGen TOPMed
TCGA novel	6	D>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752642845 RCV000513017 CA2330855	14	M>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs587778221 RCV000120620 CA158228	15	E>D		No	ClinGen ClinVar Ensembl dbSNP
rs1453594408 CA352228033	16	P>R		No	ClinGen gnomAD
CA352228029 rs1290293308	16	P>T		No	ClinGen gnomAD
CA2330856 rs757325337 COSM5702	20	A>V	thyroid large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2330857 rs77064436 COSM238574	22	V>G	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM5714 VAR_017612 CA352228072 rs1413975856	23	S>R	liver hepatocellular carcinoma; no effect [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt TOPMed dbSNP
VAR_017613	25	W>del	hepatocellular carcinoma [UniProt]	No	UniProt
rs1159520578 CA352228467	26	Q>H		No	ClinGen TOPMed
CA352228476 rs369714835	27	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352228484 rs1258632801	28	Q>H		No	ClinGen gnomAD
TCGA novel	30	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	30	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	32	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_017618	33	S>L	hepatocellular carcinoma [UniProt]	No	UniProt
VAR_017623	35	I>S	hepatocellular carcinoma [UniProt]	No	UniProt
VAR_017628	37	S>W	hepatocellular carcinoma [UniProt]	No	UniProt
TCGA novel	39	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs121913412 CA74088775 COSM5688	41	T>P	salivary_gland kidney liver large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs121913412 COSM5701 CA74088767 COSM5716	41	T>S	pituitary thyroid endometrium haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	41	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	42	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM5745 CA74088782 rs980491821	42	T>A	soft_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
rs587776850	45	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	45	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_055430	45	S>del	colorectal cancer [UniProt]	No	UniProt
COSM30735 rs1171472831 CA352228591	51	N>S	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA74088798 COSM5698 rs1031199273	52	P>L	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1408694980 CA352228629	56	D>A		No	ClinGen TOPMed gnomAD
rs772550053 CA2330865	58	D>G		No	ClinGen ExAC gnomAD
CA352228646 rs1575315698	59	T>A		No	ClinGen Ensembl
rs1330746638 CA352228680	64	Y>C		No	ClinGen TOPMed
CA352228714 rs1353105537 COSM5736	67	E>K	soft_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1269197442 CA352228829	79	V>I		No	ClinGen TOPMed
RCV001092245 rs2078134803	80	A>P		No	ClinVar dbSNP
TCGA novel	80	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352228861 rs773781329	82	I>F		No	ClinGen ExAC TOPMed gnomAD
CA352228865 rs1283770769	82	I>M		No	ClinGen TOPMed gnomAD
rs748781625 CA2330890	82	I>T		No	ClinGen ExAC TOPMed gnomAD
COSM498637 rs773781329 CA2330889	82	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770494663 CA2330891	85	Q>P		No	ClinGen ExAC gnomAD
rs1223771101 CA352228891	86	Y>C		No	ClinGen gnomAD
rs1295048026 CA352228900	87	A>V		No	ClinGen TOPMed
rs773961563 CA2330892	88	M>V		No	ClinGen ExAC TOPMed gnomAD
rs2078141257 RCV001268539	92	Q>*		No	ClinVar dbSNP
CA352228945 rs1575316298	94	V>G		No	ClinGen Ensembl
rs1158895192 CA352228947	95	R>Q		No	ClinGen gnomAD
RCV000493681 rs1131691736	96	A>missing		No	ClinVar dbSNP
CA352228963 rs760527240	98	M>L		No	ClinGen ExAC TOPMed gnomAD
CA2330896 rs760527240	98	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	101	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2330898 rs753874922	104	D>E		No	ClinGen ExAC gnomAD
rs763882677 CA2330897	104	D>N		No	ClinGen ExAC gnomAD
rs746139399 CA352229023	106	G>D		No	ClinGen TOPMed
rs746139399 CA74088961	106	G>V		No	ClinGen TOPMed
rs1373151037 CA352229029	107	M>R		No	ClinGen TOPMed
TCGA novel	107	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1575316358 CA352229043	109	I>F		No	ClinGen Ensembl
CA352229085 rs1337182887	115	D>A		No	ClinGen Ensembl
rs1350450456 CA352229084	115	D>Y		No	ClinGen gnomAD
rs770107882 CA74088965	116	A>V		No	ClinGen TOPMed gnomAD
rs758551763 CA2330899 CA2330900	123	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA2330901 rs751808983	124	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2330902 rs755204384	124	R>H		No	ClinGen ExAC gnomAD
CA74088976 rs751808983	124	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2330904 rs752945251	127	E>D		No	ClinGen ExAC
CA74088991 rs202217100	128	P>S		No	ClinGen ExAC
CA2330905 rs202217100	128	P>T		No	ClinGen ExAC
rs1483026554 CA352229188	131	M>I		No	ClinGen TOPMed
TCGA novel	132	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352229191 rs775491694	132	L>V		No	ClinGen gnomAD
CA352229231 rs1468458366	138	N>D		No	ClinGen gnomAD
CA74089020 rs892322076	146	A>T		No	ClinGen Ensembl
CA352229325 rs1267755116	151	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs200968230 CA2330909	151	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA352229328 rs1231397985	152	A>T		No	ClinGen TOPMed
rs1333019206 CA352229333	152	A>V		No	ClinGen TOPMed
CA352229336 rs1362923686	153	I>V		No	ClinGen gnomAD
rs1413932105 CA352229365	157	T>I		No	ClinGen gnomAD
CA352229406 rs1349803723	163	E>D		No	ClinGen TOPMed
TCGA novel	166	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457418133 CA352229458	169	N>S		No	ClinGen gnomAD
rs764327430 CA2330940	173	V>I		No	ClinGen ExAC gnomAD
CA2330941 rs754132704	174	M>T		No	ClinGen ExAC gnomAD
TCGA novel	178	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs77624106 CA74089177	179	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2330942 rs757629128	180	K>R		No	ClinGen ExAC gnomAD
RCV000484374 rs1064793509	181	K>missing		No	ClinVar dbSNP
CA352229539 rs1403906625	181	K>M		No	ClinGen TOPMed
rs765722646 CA2330943	181	K>Q		No	ClinGen ExAC gnomAD
rs2078151590 RCV001200160	185	R>*		No	ClinVar dbSNP
CA74089194 rs963558956 COSM327070	187	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs757818390 CA2330945	189	M>T		No	ClinGen ExAC gnomAD
CA352229600 rs1172941347	190	R>H		No	ClinGen TOPMed gnomAD
CA2330948 CA2330947 rs147382769	195	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA74089202 rs147382769	195	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA74089209 rs982974494	198	I>V		No	ClinGen TOPMed gnomAD
rs1361277045 CA352229653 COSM1044591	199	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs139085081 CA74089212	200	R>C		No	ClinGen ESP TOPMed
rs587778222 RCV000120621 RCV001854607 CA158230	202	M>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
TCGA novel	203	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2330949 rs780996852	204	N>S		No	ClinGen ExAC gnomAD
rs769777389 CA2330951	205	T>I		No	ClinGen ExAC gnomAD
CA352229699 rs1463690576	206	N>D		No	ClinGen TOPMed
rs975378240 CA74089229	207	D>E		No	ClinGen gnomAD
rs1407787738 CA352229729	210	T>S		No	ClinGen TOPMed gnomAD
rs1208316016 CA352229736	211	A>V		No	ClinGen gnomAD
CA2330954 rs770795614	212	R>C		No	ClinGen ExAC gnomAD
CA2330955 rs200890083	212	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA352229753 COSM1423037 rs1230436040	214	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA352229758 rs369771822	215	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2330958 rs369771822 COSM1044592	215	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2330959 rs762164590	215	A>V		No	ClinGen ExAC TOPMed gnomAD
CA352229827 rs144087793	225	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA352229828 rs144087793	225	R>L		No	ClinGen ESP ExAC gnomAD
CA2330960 rs144087793	225	R>P		No	ClinGen ESP ExAC gnomAD
CA352229835 rs757499487	226	E>D		No	ClinGen ExAC TOPMed gnomAD
CA74089262 rs755834449	228	L>I		No	ClinGen Ensembl
rs1453237622 CA352229849	229	L>M		No	ClinGen gnomAD
CA352229857 rs1287180882	230	A>D		No	ClinGen gnomAD
rs1393572968 CA352229871	232	F>S		No	ClinGen gnomAD
rs758889881 CA2330962	237	I>V		No	ClinGen ExAC gnomAD
CA74089270 rs373574509	240	L>V		No	ClinGen ESP gnomAD
CA74089271 rs936616269	243	M>T		No	ClinGen TOPMed gnomAD
CA2330963 rs766827521	245	G>S		No	ClinGen ExAC gnomAD
rs1430995778 CA352230053	250	S>F		No	ClinGen TOPMed
rs1349714845 CA352230068	251	V>G		No	ClinGen TOPMed
rs2078159405 RCV001249376	256	I>M		No	ClinVar dbSNP
rs1427148157 CA352230115	258	T>N		No	ClinGen TOPMed
RCV000598599 rs1553630458	259	L>missing		No	ClinVar dbSNP
rs1472749661 CA352230120	259	L>F		No	ClinGen TOPMed gnomAD
RCV001312010 rs2078159857	263	L>missing		No	ClinVar dbSNP
RCV000481334 rs1064793948	264	L>missing		No	ClinVar dbSNP
rs1559469063 CA352230160	265	H>N		No	ClinGen Ensembl
rs1392093769 CA352230194	269	A>G		No	ClinGen TOPMed
TCGA novel	270	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390494769 CA352230204	271	M>L		No	ClinGen gnomAD
CA352230223 rs1304354105	273	V>A		No	ClinGen gnomAD
CA352230219 rs1183899293	273	V>M		No	ClinGen gnomAD
CA352230227 rs1323014360	274	R>C		No	ClinGen TOPMed gnomAD
CA352230230 rs1233296947	274	R>H		No	ClinGen gnomAD
rs762074528 CA2330977	277	G>S		No	ClinGen ExAC gnomAD
CA16604470 rs1057520556 RCV000422243	281	K>*		No	ClinGen ClinVar Ensembl dbSNP
rs770030043 CA2330978	282	M>T		No	ClinGen ExAC gnomAD
CA2330981 rs766853534	287	N>H		No	ClinGen ExAC gnomAD
CA352230328 rs1292334493	290	N>D		No	ClinGen TOPMed
RCV001092246 rs2078161525	293	F>missing		No	ClinVar dbSNP
TCGA novel	296	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759085197 CA2330982	297	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1575317915 RCV001008980	309	Q>missing		No	ClinVar dbSNP
rs376393123 CA2330984	309	Q>E		No	ClinGen ESP ExAC
rs2078162308 RCV001268866	310	E>*		No	ClinVar dbSNP
rs755788748 CA2330985	311	S>G		No	ClinGen ExAC gnomAD
rs1270698911 CA352231244	313	L>F		No	ClinGen gnomAD
rs1214328620 CA352231271	315	I>V		No	ClinGen TOPMed
rs1426062980 CA352231284	316	L>M		No	ClinGen Ensembl
rs1361178030 CA352231311	317	A>P		No	ClinGen gnomAD
CA2331006 rs752184222 COSM3823849	318	S>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760272296 CA2331007	318	S>R		No	ClinGen ExAC gnomAD
rs1348918944 CA352231369	320	G>E		No	ClinGen gnomAD
RCV000627453 rs1553630795	321	P>missing		No	ClinVar dbSNP
CA352231402 rs1575320087	322	Q>P		No	ClinGen Ensembl
RCV001232713 rs554998963	324	L>V		No	ClinVar dbSNP
CA352231460 rs1319210904	326	N>H		No	ClinGen TOPMed
CA2331009 rs753499163	327	I>L		No	ClinGen ExAC gnomAD
RCV001171836 rs2078198486	328	M>missing		No	ClinVar dbSNP
rs1242107231 CA352231500	328	M>T		No	ClinGen gnomAD
CA74090242 rs1051533682	331	Y>C		No	ClinGen Ensembl
COSM299929 rs1245266458 CA352231539	334	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1454068577 CA352231573	338	W>C		No	ClinGen gnomAD
CA2331013 rs758291562	339	T>I		No	ClinGen ExAC gnomAD
RCV000338847 rs886041444	348	S>missing		No	ClinVar dbSNP
CA352231655 rs1379671563	351	S>F		No	ClinGen TOPMed
TCGA novel	354	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769825609 CA2331016	355	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA74090266 rs891968045	357	I>T		No	ClinGen TOPMed gnomAD
CA2331018 rs575671885	357	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352231702 rs1423528790	359	E>K		No	ClinGen TOPMed
CA352231711 rs1233211339	360	A>P		No	ClinGen gnomAD
CA352231986 rs1443251066	361	G>V		No	ClinGen TOPMed gnomAD
RCV000760566 CA352232004 rs1559474040	364	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs758207378 CA2331034	366	L>S		No	ClinGen ExAC gnomAD
CA2331036 rs751567042 COSM1167931	373	P>S	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1575328856 RCV001009199	380	N>missing		No	ClinVar dbSNP
rs1064796240 RCV000478521 CA16617965	382	L>P		No	ClinGen ClinVar Ensembl dbSNP
rs1275515249 CA352232182	382	L>V		No	ClinGen gnomAD
rs778731804 CA352232238	386	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
COSM188063 rs868651538 COSM131449 CA74093899	387	N>K	kidney liver large_intestine Variant assessed as Somatic; impact. prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA352232351 rs1418552051	394	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751375496 CA2331054	396	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA352232452 rs1405053019	398	M>T		No	ClinGen TOPMed
rs767491256 CA2331056 COSM730869	402	L>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs753799399 CA2331057	404	T>I		No	ClinGen ExAC gnomAD
rs1008276020 CA74093983	409	L>M		No	ClinGen TOPMed
rs757415518 CA2331058	410	G>S		No	ClinGen ExAC gnomAD
rs779273262 CA2331059	412	D>V		No	ClinGen ExAC gnomAD
rs1360295347 CA352232637	413	D>N		No	ClinGen Ensembl
rs1559474311 RCV000782021	421	A>missing		No	ClinVar dbSNP
CA74093991 rs1021045139	421	A>V		No	ClinGen Ensembl
rs747887509 CA74094001	424	L>I		No	ClinGen Ensembl
rs1559474356 CA352232901	432	Y>C		No	ClinGen Ensembl
rs768978318 CA2331064	437	M>V		No	ClinGen ExAC gnomAD
CA74094048 rs936090981	438	V>A		No	ClinGen TOPMed gnomAD
CA352233003 rs936090981	438	V>G		No	ClinGen TOPMed gnomAD
CA2331065 rs781731106	440	Q>R		No	ClinGen ExAC gnomAD
CA352233045 rs1299004124	442	G>S		No	ClinGen gnomAD
CA74094071 rs1000703442	443	G>C		No	ClinGen Ensembl
rs747602570 CA2331066	445	E>Q		No	ClinGen ExAC gnomAD
CA2331067 rs769363745	447	L>F		No	ClinGen ExAC TOPMed gnomAD
rs769363745 CA352233110	447	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2331068 rs772823421	448	V>L		No	ClinGen ExAC gnomAD
rs771596917 CA74094108 COSM317204	449	R>C	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM1423049 rs1198223590 CA352233138	449	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA352233154 rs1447487057	451	V>I		No	ClinGen TOPMed gnomAD
CA352233156 rs1447487057	451	V>L		No	ClinGen TOPMed gnomAD
rs1575329479 RCV001008209	452	L>missing		No	ClinVar dbSNP
rs1553631845 RCV000598755	452	L>missing		No	ClinVar dbSNP
rs770598744 CA2331070	453	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	457	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	458	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297519016 CA352233313	463	P>T		No	ClinGen TOPMed
rs1394698950 CA352233343	465	I>V		No	ClinGen TOPMed gnomAD
CA352233388 rs1433004172	468	L>F		No	ClinGen gnomAD
CA352233440 rs1386360637	472	T>P		No	ClinGen gnomAD
TCGA novel	474	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000734961 CA352233594 rs1559474557	482	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA352233625 rs1316791736	484	A>V		No	ClinGen gnomAD
rs113411271 CA2331076 COSM51394	486	R>C	skin endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750554859 RCV000998060 CA2331077	486	R>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs113411271 CA352233638	486	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	488	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780428505 CA2331079	489	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352233771 rs1204504884	494	V>A		No	ClinGen gnomAD
rs1009476273 CA74094192	499	H>N		No	ClinGen TOPMed
CA2331080 rs751814202	502	S>P		No	ClinGen ExAC gnomAD
CA74094213 rs1024575309	503	H>Y		No	ClinGen Ensembl
rs1382258029 CA352233913	506	L>P		No	ClinGen Ensembl
rs2078377150 RCV001092248	517	L>missing		No	ClinVar dbSNP
rs1465536580 CA352234105	520	C>S		No	ClinGen TOPMed
rs774271551 CA352234110	521	P>A		No	ClinGen gnomAD
rs1305741896 CA352234113	521	P>L		No	ClinGen gnomAD
rs774271551 CA74095151	521	P>S		No	ClinGen gnomAD
rs764576683 CA352234117	522	A>S		No	ClinGen ExAC TOPMed gnomAD
rs764576683 COSM3408665 CA2331124	522	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2331125 rs754382114	523	N>S		No	ClinGen ExAC gnomAD
CA352234140 rs1376864427	524	H>L		No	ClinGen TOPMed gnomAD
CA352234142 rs1376864427	524	H>R		No	ClinGen TOPMed gnomAD
rs973577793 CA74095169	525	A>V		No	ClinGen Ensembl
rs1057520730 RCV000442337 CA16604594	527	L>*		No	ClinGen ClinVar Ensembl dbSNP
CA2331126 rs756737848	528	R>C		No	ClinGen ExAC gnomAD
rs587778220 RCV000120619 CA158226	533	I>V		No	ClinGen ClinVar Ensembl dbSNP
rs551257843 CA2331128	542	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs758002835 CA2331129	547	T>S		No	ClinGen ExAC TOPMed gnomAD
CA352234408 rs1210247690	549	R>C		No	ClinGen gnomAD
CA2331130 rs779588249	550	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352234425 rs1187571366	551	T>A		No	ClinGen gnomAD
CA352234447 rs1328515384	553	M>T		No	ClinGen TOPMed
CA2331133 COSM1044601 rs199593411	553	M>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2331134 rs748148797	554	G>C		No	ClinGen ExAC
rs186068630 CA74095213	555	G>E		No	ClinGen 1000Genomes
rs1266504473 CA352234478	556	T>A		No	ClinGen TOPMed
TCGA novel	562	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2331157 rs745951696	563	G>E		No	ClinGen ExAC gnomAD
rs772081115 CA2331158	564	V>A		No	ClinGen ExAC gnomAD
CA352235331 rs772081115	564	V>G		No	ClinGen ExAC gnomAD
CA2331159 rs775666001	565	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760837728 CA2331160	565	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1436053000 CA352235424	569	I>R		No	ClinGen gnomAD
rs1273240803 CA352235481	572	G>D		No	ClinGen gnomAD
TCGA novel	578	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215990470 CA352235619	581	A>T		No	ClinGen gnomAD
rs762099762 CA2331163	581	A>V		No	ClinGen ExAC gnomAD
rs765762800 CA2331164	585	H>D		No	ClinGen ExAC gnomAD
CA352235671 rs1220395399	585	H>P		No	ClinGen gnomAD
CA74096153 rs763836725	586	N>D		No	ClinGen Ensembl
rs762495207 CA2331166	587	R>P		No	ClinGen ExAC gnomAD
CA352235714 rs1177261399	588	I>L		No	ClinGen gnomAD
rs766038845 CA2331167	594	N>S		No	ClinGen ExAC gnomAD
rs751139724 CA2331168	596	I>V		No	ClinGen ExAC gnomAD
rs1410068456 CA352235867 COSM4158027	599	F>L	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
CA352235878 COSM4158027 rs1404476844	599	F>L	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	602	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2331187 rs759171472	605	S>F		No	ClinGen ExAC gnomAD
CA352236006 rs1306221365	606	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA352236011 rs1212384026	607	I>F		No	ClinGen gnomAD
CA2331189 rs752328115	609	N>D		No	ClinGen ExAC gnomAD
TCGA novel	613	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352236129 rs1168206875	617	V>I		No	ClinGen gnomAD
CA352236175 rs1436728556	621	L>F		No	ClinGen gnomAD
RCV000203130 CA249331 rs864309577	623	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA352236222 rs1174315329	625	K>R		No	ClinGen gnomAD
CA2331194 rs778834508	630	A>S		No	ClinGen ExAC TOPMed gnomAD
rs898106111 CA74096588	631	I>V		No	ClinGen TOPMed gnomAD
rs1304150324 CA352236329	639	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	640	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	642	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2331197 rs755119590	646	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1044606 CA352236376 rs755119590	646	S>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA352236378 rs1296486135	647	R>G		No	ClinGen gnomAD
rs755534201 CA74096610	648	N>S		No	ClinGen TOPMed gnomAD
CA74096693 rs1031583127	652	A>V		No	ClinGen gnomAD
RCV001338886 rs2078441209	655	A>E		No	ClinVar dbSNP
rs1575334396 RCV001008572	657	A>missing		No	ClinVar dbSNP
CA2331215 COSM1537839 rs755029715	658	V>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs2078441559 RCV001268736	659	L>missing		No	ClinVar dbSNP
rs749661798 CA2331220	662	M>I		No	ClinGen ExAC
CA2331219 rs778073244	662	M>L		No	ClinGen ExAC
CA2331222 rs771458640	663	S>C		No	ClinGen ExAC
rs771458640 CA2331221	663	S>F		No	ClinGen ExAC
rs771458640 CA2331223	663	S>Y		No	ClinGen ExAC
CA2331226 rs760245475	664	E>*		No	ClinGen ExAC
CA2331227 rs763639110	664	E>G		No	ClinGen ExAC
CA2331232 rs77750814	665	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2331230 rs761565235	665	D>H		No	ClinGen ExAC gnomAD
CA2331229 rs761565235	665	D>N		No	ClinGen ExAC gnomAD
CA2331231 rs761565235	665	D>Y		No	ClinGen ExAC gnomAD
CA2331235 rs756281365	667	P>S		No	ClinGen ExAC TOPMed
rs754160678 CA2331237	668	Q>R		No	ClinGen ExAC gnomAD
rs1188330297 CA352236585	673	R>Q		No	ClinGen TOPMed
TCGA novel	675	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2331241 rs772401455	681	S>F		No	ClinGen ExAC gnomAD
CA352236746 rs1308481359	687	P>A		No	ClinGen gnomAD
rs1227734411 CA352236767	688	M>I		No	ClinGen gnomAD
VAR_018954 CA2331244 RCV000733698 rs4135384	688	M>V		No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs898060604 CA74096772	689	A>T		No	ClinGen TOPMed gnomAD
RCV000627341 CA352236786 rs1553632412	690	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs1575334693 CA352236794	691	N>D		No	ClinGen Ensembl
CA2331265 rs769068251	694	A>V		No	ClinGen ExAC gnomAD
CA2331268 rs769381974	698	L>F		No	ClinGen ExAC gnomAD
CA352236919 rs769381974	698	L>I		No	ClinGen ExAC gnomAD
CA2331269 rs772910638	700	I>L		No	ClinGen ExAC gnomAD
CA352236946 rs1302131125	702	A>T		No	ClinGen gnomAD
rs1376703203 CA352236951	702	A>V		No	ClinGen gnomAD
CA352236956 rs1437006903	703	Q>P		No	ClinGen gnomAD
RCV000782002 rs1559478415	705	E>missing		No	ClinVar dbSNP
CA352236981 rs1575337349	705	E>G		No	ClinGen Ensembl
rs762655300 CA2331270	705	E>K		No	ClinGen ExAC gnomAD
CA352236996 rs1482609443	706	P>L		No	ClinGen TOPMed gnomAD
RCV001008373 rs1575337368	707	L>missing		No	ClinVar dbSNP
rs770804258 CA2331271	707	L>F		No	ClinGen ExAC gnomAD
rs774035744 CA2331272	708	G>V		No	ClinGen ExAC gnomAD
COSM1044608 rs200308943 CA2331273	710	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs748653573 CA74097836	710	R>S		No	ClinGen TOPMed gnomAD
rs866190181 CA74098910	713	D>E		No	ClinGen Ensembl
rs1260498461 CA352237251	714	P>S		No	ClinGen TOPMed
CA2331301 rs755359135	715	S>T		No	ClinGen ExAC gnomAD
rs1248210231 CA352237266	716	Y>F		No	ClinGen TOPMed
rs768012106 CA2331302	717	R>C		No	ClinGen ExAC gnomAD
rs753246841 CA2331303	717	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2331304 rs756632297	718	S>C		No	ClinGen ExAC gnomAD
CA352237286 rs1230378066	719	F>L		No	ClinGen TOPMed gnomAD
rs777221523 CA2331305	720	H>P		No	ClinGen ExAC gnomAD
CA2331306 rs748749625	724	Y>C		No	ClinGen ExAC gnomAD
CA2331307 rs756875168	725	G>S		No	ClinGen ExAC gnomAD
CA2331309 rs745670329	728	A>G		No	ClinGen ExAC gnomAD
RCV000192556 RCV002517067 rs797045504 CA205450	728	A>P		No	ClinGen ClinVar Ensembl dbSNP
CA352237347 rs1411144383	729	L>S		No	ClinGen gnomAD
COSM1202591 CA352237353 rs1471514536	730	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA352237358 rs1293529882	731	M>V		No	ClinGen TOPMed
CA352237372 rs772033082	732	D>E		No	ClinGen ExAC gnomAD
rs1366225605 CA352237387	734	M>I		No	ClinGen TOPMed
CA352237390 rs1405010887	735	M>V		No	ClinGen gnomAD
rs746895877 CA2331312	737	H>R		No	ClinGen ExAC gnomAD
COSM1186244 CA2331313 rs768746130	739	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA352237431 rs1438939521	740	G>D		No	ClinGen TOPMed
rs773278783 CA2331314	740	G>R		No	ClinGen ExAC gnomAD
CA352237434 rs1308020513	741	G>S		No	ClinGen gnomAD
CA2331318 rs759866899	743	H>Y		No	ClinGen ExAC gnomAD
rs1356035016 CA352237459	744	P>R		No	ClinGen gnomAD
rs1016784041 CA74098992	745	G>V		No	ClinGen Ensembl
rs1458355986 CA352237477	747	D>V		No	ClinGen TOPMed
rs753089121 CA2331320	750	V>A		No	ClinGen ExAC gnomAD
COSM3380579 rs1343763001 CA352237500	751	D>N	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2331321 rs373158451	752	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs200991012 CA2331322	755	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1167738636 CA352237528	755	D>G		No	ClinGen TOPMed
rs980453294 CA74099039	760	Q>E		No	ClinGen TOPMed
rs1189472809 CA352237589	764	D>N		No	ClinGen gnomAD
CA352237604 rs1237849101	766	L>P		No	ClinGen gnomAD
CA2331324 rs756782457	767	P>R		No	ClinGen ExAC TOPMed gnomAD
CA352237608 rs1180402965	767	P>S		No	ClinGen gnomAD
CA74099044 rs377050808	768	P>L		No	ClinGen ESP
CA352237621 rs1430541681	769	G>V		No	ClinGen gnomAD
rs778596324 CA2331325	770	D>H		No	ClinGen ExAC gnomAD
CA352237630 rs1221104083	771	S>G		No	ClinGen gnomAD
CA352237633 rs1480609787	771	S>T		No	ClinGen TOPMed
rs569666187 CA2331326	772	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs779955747 CA2331328	773	Q>E		No	ClinGen ExAC gnomAD
CA352237648 rs1340254110	773	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1312540894 CA352237657	775	A>S		No	ClinGen gnomAD
rs1302757202 CA352237660	775	A>V		No	ClinGen TOPMed
TCGA novel	782	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

9 associated diseases with P35222

[MIM: 114500]: Colorectal cancer (CRC)

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:9065402}. Note=The gene represented in this entry may be involved in disease pathogenesis.

[MIM: 132600]: Pilomatrixoma (PTR)

Common benign skin tumor. {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:12027456}. Note=The gene represented in this entry is involved in disease pathogenesis.

[MIM: 155255]: Medulloblastoma (MDB)

Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269|PubMed:10666372, ECO:0000269|PubMed:12027456}. Note=The gene represented in this entry may be involved in disease pathogenesis.

[MIM: 167000]: Ovarian cancer (OC)

The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:10391090}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 156240]: Mesothelioma, malignant (MESOM)

An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. {ECO:0000269|PubMed:11464291}. Note=The gene represented in this entry may be involved in disease pathogenesis.

[MIM: 615075]: Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV)

An autosomal dominant disorder characterized by global developmental delay, severe intellectual disability with absent or very limited speech, microcephaly, spasticity, and visual abnormalities. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:25326669, ECO:0000269|PubMed:28514307}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617572]: Vitreoretinopathy, exudative 7 (EVR7)

A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. {ECO:0000269|PubMed:28575650}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:9065402}. Note=The gene represented in this entry may be involved in disease pathogenesis.
Common benign skin tumor. {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:12027456}. Note=The gene represented in this entry is involved in disease pathogenesis.
Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269|PubMed:10666372, ECO:0000269|PubMed:12027456}. Note=The gene represented in this entry may be involved in disease pathogenesis.
The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:10391090}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. {ECO:0000269|PubMed:11464291}. Note=The gene represented in this entry may be involved in disease pathogenesis.
An autosomal dominant disorder characterized by global developmental delay, severe intellectual disability with absent or very limited speech, microcephaly, spasticity, and visual abnormalities. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:25326669, ECO:0000269|PubMed:28514307}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. {ECO:0000269|PubMed:28575650}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P35222

Type	Name	Position	InterPro Accession
repeat	Armadillo	141 - 390	IPR000225-1
repeat	Armadillo	392 - 582	IPR000225-2
repeat	Armadillo	583 - 664	IPR000225-3

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus Cytoplasm, cytoskeleton Cell junction, adherens junction Cell junction Cell membrane Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle pole Synapse Cytoplasm, cytoskeleton, cilium basal body	Colocalized with RAPGEF2 and TJP1 at cell-cell contacts (By similarity) Cytoplasmic when it is un-stable (highly phosphorylated) or bound to CDH1 Translocates to the nucleus when it is stabilized (low level of phosphorylation) Interaction with GLIS2 and MUC1 promotes nuclear translocation Interaction with EMD inhibits nuclear localization The majority of beta-catenin is localized to the cell membrane In interphase, colocalizes with CROCC between CEP250 puncta at the proximal end of centrioles, and this localization is dependent on CROCC and CEP250 In mitosis, when NEK2 activity increases, it localizes to centrosomes at spindle poles independent of CROCC Colocalizes with CDK5 in the cell-cell contacts and plasma membrane of undifferentiated and differentiated neuroblastoma cells Interaction with FAM53B promotes translocation to the nucleus (PubMed:25183871)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

43 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
apical part of cell	The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue.
apicolateral plasma membrane	The apical end of the lateral plasma membrane of epithelial cells.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
beta-catenin destruction complex	A cytoplasmic protein complex containing glycogen synthase kinase-3-beta (GSK-3-beta), the adenomatous polyposis coli protein (APC), and the scaffolding protein axin, among others; phosphorylates beta-catenin, targets it for degradation by the proteasome.
beta-catenin-ICAT complex	Transcription factor complex that inhibits binding of Tcf to beta-catenin while preserving interaction of catenin with cadherin thus inhibiting transcription mediated by beta-catenin-Tcf complex.
beta-catenin-TCF complex	A protein complex that contains beta-catenin and a member of the T-cell factor (TCF)/lymphoid enhancer binding factor (LEF) family of transcription factors.
beta-catenin-TCF7L2 complex	A protein complex that contains beta-catenin and TCF7L2 (TCF4), binds to the TCF DNA motif within a promoter element, and is involved in the regulation of WNT target gene transcription.
bicellular tight junction	An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
catenin complex	Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton.
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell periphery	The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
euchromatin	A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
fascia adherens	A cell-cell junction that contains the transmembrane protein N-cadherin, which interacts with identical molecules from neighbouring cells to form a tight mechanical intercellular link; forms a large portion of the intercalated disc, the structure at which myofibrils terminate in cardiomyocytes.
flotillin complex	A protein complex that contains flotillin-1 and flotillin-2, and may contain associated proteins. Flotillins associate into membrane microdomains resembling caveolae.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
lateral plasma membrane	The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microvillus membrane	The portion of the plasma membrane surrounding a microvillus.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density, intracellular component	A network of proteins adjacent to the postsynaptic membrane forming an electron dense disc. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize neurotransmitter receptors in the adjacent membrane, such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
presynaptic active zone cytoplasmic component	A specialized region below the presynaptic membrane, characterized by electron-dense material, a specialized cytoskeletal matrix and accumulated (associated) synaptic vesicles.
presynaptic membrane	A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
protein-DNA complex	A macromolecular complex containing both protein and DNA molecules.
Schaffer collateral - CA1 synapse	A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell.
Scrib-APC-beta-catenin complex	A protein complex that contains the Scribble protein (a cell polarity determinant), the tumor suppressor protein adenomatous polyposis coli (APC), and beta-catenin; may be involved in the control of cell proliferation.
spindle pole	Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.
Wnt signalosome	A multiprotein protein complex containing membrane-localized Wnt receptors and cytosolic protein complexes, which is capable of transmitting the Wnt signal. Contains at least a Wnt protein, LRP5 or LRP6, a member of the Frizzled (Fz) family, Axin and and a Dishevelled (DVL) protein.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

20 GO annotations of molecular function

Name	Definition
alpha-catenin binding	Binding to catenin complex alpha subunit.
beta-catenin binding	Binding to a catenin beta subunit.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
disordered domain specific binding	Binding to a disordered domain of a protein.
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
histone methyltransferase binding	Binding to a histone methyltransferase enzyme.
I-SMAD binding	Binding to an inhibitory SMAD signaling protein.
kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
nuclear estrogen receptor binding	Binding to a nuclear estrogen receptor.
nuclear receptor binding	Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein phosphatase binding	Binding to a protein phosphatase.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
SMAD binding	Binding to a SMAD signaling protein.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
transcription coregulator binding	Binding to a transcription coregulator, a protein involved in regulation of transcription via protein-protein interactions with transcription factors and other transcription regulatory proteins. Cofactors do not bind DNA directly, but rather mediate protein-protein interactions between regulatory transcription factors and the basal transcription machinery.
transmembrane transporter binding	Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

157 GO annotations of biological process

Name	Definition
acinar cell differentiation	The epithelial cell differentiation process in which a relatively unspecialized cell acquires specialized features of an acinar cell, a secretory cell that is grouped together with other cells of the same type to form grape-shaped clusters known as acini.
adherens junction assembly	The aggregation, arrangement and bonding together of a set of components to form an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments.
anterior/posterior axis specification	The establishment, maintenance and elaboration of the anterior/posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism.
apoptotic signaling pathway	The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered.
astrocyte-dopaminergic neuron signaling	Cell-cell signaling that mediates the transfer of information from an astrocyte to a dopaminergic neuron.
bone resorption	The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.
branching involved in blood vessel morphogenesis	The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system.
branching involved in ureteric bud morphogenesis	The process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules.
canonical Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes.
canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes involved in mesenchymal stem cell differentiation.
canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation	Any canonical Wnt signaling pathway that is involved in midbrain dopaminergic neuron differentiation.
canonical Wnt signaling pathway involved in negative regulation of apoptotic process	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes involved in the negative regulation of apoptotic process.
canonical Wnt signaling pathway involved in osteoblast differentiation	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes involved in osteoblast differentiation.
canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation	The canonical Wnt signaling pathway that contributes to the modulation of the expansion of a population of cardiac outflow tract cells.
canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes involved in the positive regulation of epithelial cell to mesenchymal cell transition.
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell fate specification	The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment.
cell maturation	A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state.
cell morphogenesis involved in differentiation	The change in form (cell shape and size) that occurs when relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history.
cell-cell adhesion	The attachment of one cell to another cell via adhesion molecules.
cell-matrix adhesion	The binding of a cell to the extracellular matrix via adhesion molecules.
cellular response to growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus.
cellular response to indole-3-methanol	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an indole-3-methanol stimulus.
central nervous system vasculogenesis	The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes in the central nervous system. The capillary endothelial cells in the brain are specialized to form the blood-brain barrier.
chemical synaptic transmission	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
chondrocyte differentiation	The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage.
cranial ganglion development	The process whose specific outcome is the progression of a cranial ganglion over time, from its formation to the mature structure.
cranial skeletal system development	The process whose specific outcome is the progression of a cranial skeletal system over time, from its formation to the mature structure. The cranial skeletal system is the skeletal subdivision of the head, and includes the skull (cranium plus mandible), pharyngeal and/or hyoid apparatus.
detection of muscle stretch	The series of events by which a muscle stretch stimulus is received by a cell and converted into a molecular signal.
dorsal root ganglion development	The process whose specific outcome is the progression of a dorsal root ganglion over time, from its formation to the mature structure.
dorsal/ventral axis specification	The establishment, maintenance and elaboration of the dorsal/ventral axis. The dorsal/ventral axis is defined by a line that runs orthogonal to both the anterior/posterior and left/right axes. The dorsal end is defined by the upper or back side of an organism. The ventral end is defined by the lower or front side of an organism.
ectoderm development	The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation.
embryonic axis specification	The establishment, maintenance and elaboration of a pattern along a line or a point in an embryo.
embryonic brain development	The process occurring during the embryonic phase whose specific outcome is the progression of the brain over time, from its formation to the mature structure.
embryonic digit morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe.
embryonic foregut morphogenesis	The process in which the anatomical structures of the foregut are generated and organized, during the embryonic phase.
embryonic forelimb morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the forelimb are generated and organized. The forelimbs are the front limbs of an animal, e.g. the arms of a human.
embryonic heart tube development	The process whose specific outcome is the progression of the embryonic heart tube over time, from its formation to the mature structure. The heart tube forms as the heart rudiment from the heart field.
embryonic hindlimb morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the hindlimbs are generated and organized. The hindlimbs are the posterior limbs of an animal.
embryonic skeletal limb joint morphogenesis	The process, occurring in the embryo, in which the anatomical structures of a skeletal limb joint are generated and organized. A skeletal limb joint is the connecting structure between the bones of a limb.
endodermal cell fate commitment	The cell differentiation process that results in commitment of a cell to become part of the endoderm.
endothelial tube morphogenesis	The process in which the anatomical structures of a tube are generated and organized from an endothelium. Endothelium refers to the layer of cells lining blood vessels, lymphatics, the heart, and serous cavities, and is derived from bone marrow or mesoderm. Corneal endothelium is a special case, derived from neural crest cells.
epithelial cell differentiation involved in prostate gland development	The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell of the prostate gland.
epithelial cell proliferation involved in prostate gland development	The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population that contributes to the progression of the prostate gland over time.
epithelial to mesenchymal transition	A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
epithelial tube branching involved in lung morphogenesis	The process in which a highly ordered sequence of patterning events generates the branched epithelial tubes of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units.
fibroblast growth factor receptor signaling pathway	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands.
fungiform papilla formation	The developmental process pertaining to the initial formation of a spongiform papilla from unspecified parts. The fungiform papilla is a mushroom-shaped papilla of the tongue.
gastrulation with mouth forming second	A gastrulation process in which the initial invagination becomes the anus and the mouth forms second.
genitalia morphogenesis	The process in which the anatomical structures of genitalia are generated and organized. The genitalia are the organs of reproduction or generation, external and internal.
glial cell fate determination	The cell fate determination process in which a cell becomes capable of differentiating autonomously into a glial cell regardless of its environment; upon determination, the cell fate cannot be reversed.
hair cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a hair cell.
hair follicle morphogenesis	The process in which the anatomical structures of the hair follicle are generated and organized.
hair follicle placode formation	The developmental process in which a hair placode forms. An hair follicle placode is a thickening of the ectoderm that will give rise to the hair follicle bud.
hindbrain development	The process whose specific outcome is the progression of the hindbrain over time, from its formation to the mature structure. The hindbrain is the posterior of the three primary divisions of the developing chordate brain, or the corresponding part of the adult brain (in vertebrates, includes the cerebellum, pons, and medulla oblongata and controls the autonomic functions and equilibrium).
hypothalamus development	The progression of the hypothalamus region of the forebrain, from its initial formation to its mature state.
I-kappaB kinase/NF-kappaB signaling	The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
layer formation in cerebral cortex	The detachment of cells from radial glial fibers at the appropriate time when they cease to migrate and form distinct layer in the cerebral cortex.
lens morphogenesis in camera-type eye	The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus.
lung epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell that contributes to the epithelium of the lung.
lung induction	The close range interaction of two or more cells or tissues that causes the cells of the foregut to change their fates and specify the development of the lung.
lung-associated mesenchyme development	The biological process whose specific outcome is the progression of a lung-associated mesenchyme from an initial condition to its mature state. This process begins with the formation of lung-associated mesenchyme and ends with the mature structure. Lung-associated mesenchyme is the tissue made up of loosely connected mesenchymal cells in the lung.
male genitalia development	The process whose specific outcome is the progression of the male genitalia over time, from its formation to the mature structure.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
mesenchymal cell proliferation involved in lung development	The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population that contributes to the progression of the lung over time. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets.
mesenchymal stem cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal stem cell. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.
metanephros morphogenesis	The process in which the anatomical structures of the metanephros are generated and organized.
midbrain dopaminergic neuron differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a midbrain dopaminergic neuron.
myoblast proliferation	The multiplication or reproduction of myoblasts, resulting in the expansion of a myoblast cell population. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
negative regulation of angiogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway.
negative regulation of canonical Wnt signaling pathway	Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of chondrocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of chondrocyte differentiation.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	Any process that decreases the rate, frequency or extent of the transition where a mesenchymal cell establishes apical/basolateral polarity,forms intercellular adhesive junctions, synthesizes basement membrane components and becomes an epithelial cell that will contribute to the shaping of the metanephros.
negative regulation of mitotic cell cycle, embryonic	Any process that stops, prevents or reduces the rate or extent of progression through the embryonic mitotic cell cycle.
negative regulation of oligodendrocyte differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of oligodendrocyte differentiation.
negative regulation of osteoclast differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation.
negative regulation of oxidative stress-induced neuron death	Any process that stops, prevents or reduces the frequency, rate or extent of oxidative stress-induced neuron death.
negative regulation of protein sumoylation	Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of SUMO groups to a protein.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
nephron tubule formation	The developmental process pertaining to the initial formation of a nephron tubule from unspecified parts. A nephron tubule is an epithelial tube that is part of the nephron, the functional part of the kidney.
neural plate development	The process whose specific outcome is the progression of the neural plate over time, from its formation to the mature structure. The neural plate is a flat, thickened layer of ectodermal cells. The underlying dorsal mesoderm signals the ectodermal cells above it to elongate into columnar neural plate cells. The neural plate subsequently develops into the neural tube, which gives rise to the central nervous system.
neuroblast proliferation	The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron.
neuron fate determination	The process in which a cell becomes capable of differentiating autonomously into a neuron regardless of its environment; upon determination, the cell fate cannot be reversed.
neuron migration	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
neuron projection extension	Long distance growth of a single neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
odontogenesis of dentin-containing tooth	The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel.
oligodendrocyte differentiation	The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system.
oocyte development	The process whose specific outcome is the progression of an oocyte over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell.
osteoclast differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue.
oviduct development	The reproductive developmental process whose specific outcome is the progression of an oviduct over time, from its formation to the mature structure. An oviduct is a tube through which an ova passes from the ovary to the uterus, or from the ovary to the outside of the organism.
pancreas development	The process whose specific outcome is the progression of the pancreas over time, from its formation to the mature structure. The pancreas is an endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of branching involved in lung morphogenesis	Any process that increases the rate, frequency, or extent of the process in which a highly ordered sequence of patterning events generates the branched structures of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units.
positive regulation of cell differentiation	Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of core promoter binding	Any process that activates or increases the frequency, rate or extent of core promoter binding.
positive regulation of determination of dorsal identity	Any process that activates or increases the frequency, rate or extent of determination of dorsal identity.
positive regulation of DNA-binding transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of endothelial cell differentiation	Any process that activates or increases the frequency, rate or extent of endothelial cell differentiation.
positive regulation of epithelial cell proliferation involved in prostate gland development	Any process that increases the rate, frequency or extent of epithelial cell proliferation that contributes to the progression of the prostate gland over time.
positive regulation of epithelial to mesenchymal transition	Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
positive regulation of fibroblast growth factor receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of fibroblast growth factor receptor signaling pathway activity.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of heparan sulfate proteoglycan biosynthetic process	Any process that increases the rate, frequency or extent of heparan sulfate proteoglycan biosynthesis. Heparan sulfate proteoglycan biosynthetic processes are the chemical reactions and pathways resulting in the formation of the heparan sulfate proteoglycan, a glycosaminoglycan with repeat unit consisting of alternating alpha-(1->4)-linked hexuronic acid and glucosamine residues.
positive regulation of histone H3-K4 methylation	Any process that activates or increases the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 4 of histone H3.
positive regulation of I-kappaB kinase/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of mesenchymal cell proliferation	The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells.
positive regulation of myoblast proliferation	Any process that activates or increases the frequency, rate or extent of myoblast proliferation.
positive regulation of neuroblast proliferation	Any process that activates or increases the rate of neuroblast proliferation.
positive regulation of neuron apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process.
positive regulation of osteoblast differentiation	Any process that activates or increases the frequency, rate or extent of osteoblast differentiation.
positive regulation of skeletal muscle tissue development	Any process that activates, maintains or increases the rate of skeletal muscle tissue development.
positive regulation of stem cell proliferation	Any process that activates or increases the frequency, rate or extent of stem cell proliferation.
positive regulation of telomerase activity	Any process that activates or increases the frequency, rate or extent of telomerase activity, the catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
positive regulation of telomere maintenance via telomerase	Any process that activates or increases the frequency, rate or extent of the addition of telomeric repeats by telomerase.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription elongation by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II.
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
protein localization to cell surface	A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane.
protein polyubiquitination	Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain.
proximal/distal pattern formation	The regionalization process in which specific areas of cell differentiation are determined along a proximal/distal axis. The proximal/distal axis is defined by a line that runs from main body (proximal end) of an organism outward (distal end).
regulation of angiogenesis	Any process that modulates the frequency, rate or extent of angiogenesis.
regulation of calcium ion import	Any process that modulates the rate, frequency, or extent of the directed movement of calcium ions into a cell or organelle.
regulation of centriole-centriole cohesion	Any process that modulates the extent to which the two centrioles within a centrosome remain tightly paired; may be mediated by the assembly and disassembly of a proteinaceous linker.
regulation of centromeric sister chromatid cohesion	Any process that modulates the frequency, rate or extent of sister chromatid cohesion in the centromeric region of a chromosome.
regulation of fibroblast proliferation	Any process that modulates the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
regulation of myelination	Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons.
regulation of nephron tubule epithelial cell differentiation	Any process that modulates the frequency, rate or extent of nephron tubule epithelial cell differentiation.
regulation of neurogenesis	Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system.
regulation of protein localization to cell surface	Any process that modulates the frequency, rate or extent of protein localization to the cell surface.
regulation of secondary heart field cardioblast proliferation	Any process that modulates the frequency, rate or extent of cardioblast proliferation in the second heart field. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating. The secondary heart field is the region of the heart that will form the majority of the mesodermal component of the right ventricle, the arterial pole (outflow tract) and the venous pole (inflow tract).
regulation of smooth muscle cell proliferation	Any process that modulates the frequency, rate or extent of smooth muscle cell proliferation.
regulation of T cell proliferation	Any process that modulates the frequency, rate or extent of T cell proliferation.
regulation of timing of anagen	Any process that modulates the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle.
renal inner medulla development	The process whose specific outcome is the progression of the renal inner medulla over time, from its formation to the mature structure. The renal inner medulla is unique to mammalian kidneys and is the innermost region of the mammalian kidney.
renal outer medulla development	The process whose specific outcome is the progression of the renal outer medulla over time, from its formation to the mature structure. The renal outer medulla is the region of the kidney that lies between the renal cortex and the renal inner medulla.
renal vesicle formation	The developmental process pertaining to the initial formation of the renal vesicle from condensed mesenchymal cells. The renal vesicle is the primordial structure of the nephron epithelium, and is formed by the condensation of mesenchymal cells.
response to estradiol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
smooth muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell; smooth muscle lacks transverse striations in its constituent fibers and are almost always involuntary.
stem cell population maintenance	The process by which an organism or tissue maintains a population of stem cells of a single type. This can be achieved by a number of mechanisms: stem cell asymmetric division maintains stem cell numbers; stem cell symmetric division increases them; maintenance of a stem cell niche maintains the conditions for commitment to the stem cell fate for some types of stem cell; stem cells may arise de novo from other cell types.
stem cell proliferation	The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
sympathetic ganglion development	The process whose specific outcome is the progression of a sympathetic ganglion over time, from its formation to the mature structure.
synapse organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell).
synaptic vesicle clustering	The process that results in grouping synaptic vesicles in presynaptic structures.
synaptic vesicle transport	The directed movement of synaptic vesicles.
T cell differentiation in thymus	The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus.
thymus development	The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components.
trachea formation	The process pertaining to the initial formation of a trachea from unspecified parts. The process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the trachea is recognizable. The trachea is the portion of the airway that attaches to the bronchi as it branches.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q02248	Ctnnb1	Catenin beta-1	Mus musculus (Mouse)	PR
Q9WU82	Ctnnb1	Catenin beta-1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MATQADLMEL	DMAMEPDRKA	AVSHWQQQSY	LDSGIHSGAT	TTAPSLSGKG	NPEEEDVDTS
70	80	90	100	110	120
QVLYEWEQGF	SQSFTQEQVA	DIDGQYAMTR	AQRVRAAMFP	ETLDEGMQIP	STQFDAAHPT
130	140	150	160	170	180
NVQRLAEPSQ	MLKHAVVNLI	NYQDDAELAT	RAIPELTKLL	NDEDQVVVNK	AAVMVHQLSK
190	200	210	220	230	240
KEASRHAIMR	SPQMVSAIVR	TMQNTNDVET	ARCTAGTLHN	LSHHREGLLA	IFKSGGIPAL
250	260	270	280	290	300
VKMLGSPVDS	VLFYAITTLH	NLLLHQEGAK	MAVRLAGGLQ	KMVALLNKTN	VKFLAITTDC
310	320	330	340	350	360
LQILAYGNQE	SKLIILASGG	PQALVNIMRT	YTYEKLLWTT	SRVLKVLSVC	SSNKPAIVEA
370	380	390	400	410	420
GGMQALGLHL	TDPSQRLVQN	CLWTLRNLSD	AATKQEGMEG	LLGTLVQLLG	SDDINVVTCA
430	440	450	460	470	480
AGILSNLTCN	NYKNKMMVCQ	VGGIEALVRT	VLRAGDREDI	TEPAICALRH	LTSRHQEAEM
490	500	510	520	530	540
AQNAVRLHYG	LPVVVKLLHP	PSHWPLIKAT	VGLIRNLALC	PANHAPLREQ	GAIPRLVQLL
550	560	570	580	590	600
VRAHQDTQRR	TSMGGTQQQF	VEGVRMEEIV	EGCTGALHIL	ARDVHNRIVI	RGLNTIPLFV
610	620	630	640	650	660
QLLYSPIENI	QRVAAGVLCE	LAQDKEAAEA	IEAEGATAPL	TELLHSRNEG	VATYAAAVLF
670	680	690	700	710	720
RMSEDKPQDY	KKRLSVELTS	SLFRTEPMAW	NETADLGLDI	GAQGEPLGYR	QDDPSYRSFH
730	740	750	760	770	780
SGGYGQDALG	MDPMMEHEMG	GHHPGADYPV	DGLPDLGHAQ	DLMDGLPPGD	SNQLAWFDTD

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