Q969H0
PR
Gene name |
FBXW7 |
Protein name |
F-box/WD repeat-containing protein 7 |
Names |
Archipelago homolog, hAgo, F-box and WD-40 domain-containing protein 7, F-box protein FBX30, SEL-10, hCdc4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55294 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
8 structures for Q969H0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2OVP | X-ray | 290 A | B | 263-707 | PDB |
| 2OVQ | X-ray | 260 A | B | 263-707 | PDB |
| 2OVR | X-ray | 250 A | B | 263-707 | PDB |
| 5IBK | X-ray | 250 A | B/E | 263-323 | PDB |
| 5V4B | X-ray | 260 A | B | 263-706 | PDB |
| 7T1Y | X-ray | 255 A | B | 263-707 | PDB |
| 7T1Z | X-ray | 277 A | B | 263-707 | PDB |
| AF-Q969H0-F1 | Predicted | AlphaFoldDB |
391 variants for Q969H0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001293827 rs1737970426 |
86 | S>missing | Colorectal cancer [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_087662 | 416 | T>A | DEDHIL [UniProt] | Yes | UniProt |
| VAR_087663 | 416 | T>I | DEDHIL [UniProt] | Yes | UniProt |
| VAR_087664 | 420 | H>L | DEDHIL [UniProt] | Yes | UniProt |
| VAR_087665 | 423 | G>R | DEDHIL; no effect on protein abundance; changed proteasome-mediated ubiquitin-dependent protein catabolic process [UniProt] | Yes | UniProt |
| VAR_087666 | 441 | R>G | DEDHIL [UniProt] | Yes | UniProt |
| VAR_087667 | 462 | S>P | DEDHIL [UniProt] | Yes | UniProt |
|
COSM170727 RCV000420440 RCV000420611 RCV000431273 RCV000432242 COSM22932 RCV000426601 RCV000439190 RCV000421110 rs867384286 CA16602851 RCV000428525 VAR_017815 RCV000439851 RCV000443314 RCV000431798 RCV000422617 RCV000441161 RCV002512102 COSM1154293 RCV000433796 |
465 | R>C | Malignant neoplasm of body of uterus Medulloblastoma (mdb) Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix central_nervous_system B-cell chronic lymphocytic leukemia stomach Lung adenocarcinoma small_intestine pancreas Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract endometrium Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Variant assessed as Somatic; 0.0 impact. oesophagus Squamous cell lung carcinoma Medulloblastoma large_intestine breast Adenoid cystic carcinoma Breast neoplasm an acute lymphoblastic leukemia cell line; loss of interaction with substrate; does not affect interaction with SKP1 or STYX [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000437252 RCV000426581 RCV000431326 RCV000421262 RCV000428024 CA16602855 RCV000436581 RCV000420198 RCV000419147 RCV000429882 RCV000441574 RCV000421492 RCV000437918 RCV000439102 rs867384286 RCV000443495 |
465 | R>G | Malignant neoplasm of body of uterus Medulloblastoma (mdb) Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Medulloblastoma Squamous cell lung carcinoma Variant assessed as Somatic; impact. Neoplasm of the large intestine Adenoid cystic carcinoma Breast neoplasm [ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA16602852 RCV000417975 COSM117310 RCV000417744 rs1057519895 COSM1149856 VAR_035880 RCV000428675 RCV000420844 RCV000437932 RCV000439989 RCV000427168 RCV000422069 RCV000438452 RCV000426392 RCV000433642 RCV000437827 RCV000429314 RCV000443195 COSM22965 |
465 | R>H | Malignant neoplasm of body of uterus Medulloblastoma (mdb) Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix B-cell chronic lymphocytic leukemia Lung adenocarcinoma small_intestine Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus biliary_tract urinary_tract endometrium Gastric adenocarcinoma lung salivary_gland Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Variant assessed as Somatic; 0.0 impact. Squamous cell lung carcinoma Medulloblastoma large_intestine Adenoid cystic carcinoma Breast neoplasm DEDHIL; also found in a colorectal cancer sample [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000423635 RCV000443662 COSM33762 RCV000436100 RCV000443518 RCV000422964 RCV000421731 RCV000440224 rs1057519895 CA16602854 RCV000425901 RCV000441781 RCV000431539 COSM673925 RCV000430408 RCV000434382 RCV000431029 RCV000419727 |
465 | R>L | Malignant neoplasm of body of uterus Medulloblastoma (mdb) Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix endometrium B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Medulloblastoma Squamous cell lung carcinoma Variant assessed as Somatic; impact. Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Adenoid cystic carcinoma Breast neoplasm [ClinVar, Ensembl, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000428799 RCV000433446 RCV000418970 RCV000435527 RCV000440831 RCV000424801 RCV000417428 RCV000434066 rs1057519895 CA16602853 RCV000422698 RCV000442912 RCV000443932 RCV000436201 RCV000424610 RCV000427741 |
465 | R>P | Malignant neoplasm of body of uterus Medulloblastoma (mdb) Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Lung adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Medulloblastoma Variant assessed as Somatic; impact. Neoplasm of the large intestine Adenoid cystic carcinoma Breast neoplasm [ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000424081 RCV000430277 RCV000440536 RCV000441809 COSM22966 RCV000419134 COSM3127986 RCV000444444 RCV000431768 COSM3127988 RCV000421698 rs747241612 CA3106160 RCV000431962 RCV000444414 RCV000423892 RCV000434161 |
479 | R>G | Malignant neoplasm of body of uterus Neoplasm of uterine cervix Glioblastoma endometrium Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Variant assessed as Somatic; 0.0 impact. Squamous cell lung carcinoma large_intestine Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000425643 RCV000427761 RCV000418015 RCV000434540 COSM99621 COSM27058 RCV000424541 RCV000442879 RCV000443948 RCV000435934 rs866987936 RCV000419083 RCV000440513 RCV000429417 CA16602858 RCV000435692 |
479 | R>L | Malignant neoplasm of body of uterus upper_aerodigestive_tract Neoplasm of uterine cervix Glioblastoma stomach Gastric adenocarcinoma small_intestine Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Variant assessed as Somatic; impact. Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000418562 RCV000423233 RCV000428805 RCV000435084 RCV000422262 RCV000438793 RCV000440893 RCV000428552 COSM420169 COSM1133712 RCV000417415 RCV000433275 RCV000434336 COSM420170 rs866987936 CA16602857 RCV000439933 |
479 | R>P | Malignant neoplasm of body of uterus Neoplasm of uterine cervix Glioblastoma urinary_tract Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma Variant assessed as Somatic; impact. Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000427334 CA16602856 COSM447498 VAR_087668 COSM1154291 RCV000426198 COSM22974 RCV000433841 RCV000427513 RCV000437563 rs866987936 RCV000444172 RCV000443229 RCV000422547 RCV000444094 RCV000420785 RCV000432827 RCV000432590 |
479 | R>Q | Malignant neoplasm of body of uterus Neoplasm of uterine cervix Glioblastoma endometrium Gastric adenocarcinoma lung kidney Uterine carcinosarcoma Squamous cell carcinoma of the head and neck pancreas Squamous cell lung carcinoma large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue breast Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Breast neoplasm DEDHIL [ClinVar, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP UniProt |
| VAR_087669 | 480 | D>G | DEDHIL; no effect on protein abundance; changed proteasome-mediated ubiquitin-dependent protein catabolic process [UniProt] | Yes | UniProt |
|
rs149680468 RCV000437170 RCV000426925 RCV000422275 RCV000427176 RCV000443061 RCV000422076 RCV000444218 COSM22975 COSM1154290 RCV000432318 CA16602253 COSM108572 RCV000433395 RCV000438775 RCV000428536 RCV000444088 |
505 | R>C | Malignant neoplasm of body of uterus Carcinoma of esophagus biliary_tract Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix skin endometrium B-cell chronic lymphocytic leukemia Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Variant assessed as Somatic; 0.0 impact. pancreas Squamous cell lung carcinoma large_intestine Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Malignant melanoma of skin [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs149680468 RCV000420999 RCV000430756 RCV000438652 RCV000426495 COSM99606 RCV000431005 RCV000436496 RCV000437528 RCV000420774 RCV000425337 RCV000437332 CA16602859 COSM99604 COSM1133711 RCV000443509 RCV000419644 |
505 | R>G | Malignant neoplasm of body of uterus upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix urinary_tract endometrium B-cell chronic lymphocytic leukemia Gastric adenocarcinoma lung Squamous cell carcinoma of the head and neck Uterine carcinosarcoma oesophagus Squamous cell lung carcinoma large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine Malignant melanoma of skin [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000434393 VAR_087670 CA16602861 RCV000440517 RCV000424983 COSM3127975 RCV000418430 COSM287374 RCV000442928 RCV000660655 RCV000425614 RCV000436317 RCV000443929 RCV000435656 RCV000427831 COSM133117 rs1057519896 RCV000423701 RCV000431557 |
505 | R>H | Malignant neoplasm of body of uterus Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Malignant melanoma of skin DEDHIL [ClinVar, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP UniProt |
|
CA16602860 RCV000428507 RCV000421948 RCV000423047 RCV000438226 VAR_017816 rs1057519896 RCV000428228 RCV000429608 COSM1671362 COSM23000 RCV000418253 RCV000420626 RCV000439833 COSM99657 RCV000434990 RCV000433338 RCV000439579 |
505 | R>L | Malignant neoplasm of body of uterus upper_aerodigestive_tract Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix B-cell chronic lymphocytic leukemia Gastric adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Malignant melanoma of skin an ovarian cancer cell line [ClinVar, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs149680468 COSM1149853 RCV000441048 RCV000441739 RCV000420985 RCV000429788 RCV000419073 RCV000431685 RCV000419711 RCV000430339 CA16602862 RCV000423791 COSM732380 RCV000444420 RCV000440442 COSM33763 RCV000434480 |
505 | R>S | Malignant neoplasm of body of uterus Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix B-cell chronic lymphocytic leukemia Gastric adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck oesophagus Squamous cell lung carcinoma Variant assessed as Somatic; impact. Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Malignant melanoma of skin [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
| VAR_087671 | 544 | V>G | DEDHIL; no effect on protein abundance; changed on proteasome-mediated ubiquitin-dependent protein catabolic process [UniProt] | Yes | UniProt |
| VAR_087672 | 580 | H>Y | DEDHIL [UniProt] | Yes | UniProt |
| VAR_087673 | 582 | S>A | DEDHIL [UniProt] | Yes | UniProt |
| VAR_087674 | 599 | A>V | DEDHIL [UniProt] | Yes | UniProt |
| VAR_087675 | 608 | I>V | DEDHIL; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_087676 | 626 | A>V | DEDHIL [UniProt] | Yes | UniProt |
| VAR_087677 | 640 | S>R | DEDHIL; no effect on protein abundance; changed proteasome-mediated ubiquitin-dependent protein catabolic process [UniProt] | Yes | UniProt |
| VAR_087678 | 647 | K>del | DEDHIL; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000437095 RCV000419184 RCV000432336 CA3106105 RCV000444286 COSM206687 COSM206685 RCV000426437 RCV000436448 RCV000425117 RCV000425775 rs759610249 COSM1594354 |
658 | R>Q | Malignant neoplasm of body of uterus Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix large_intestine Glioblastoma endometrium Neoplasm of the large intestine Variant assessed as Somatic; 9.239e-05 impact. Malignant melanoma of skin [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| VAR_087679 | 674 | R>P | DEDHIL; no effect on protein abundance; changed on proteasome-mediated ubiquitin-dependent protein catabolic process [UniProt] | Yes | UniProt |
|
CA108586144 rs140856583 VAR_087680 |
674 | R>W | DEDHIL; no effect on protein abundance; changed proteasome-mediated ubiquitin-dependent protein catabolic process [UniProt] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt |
| VAR_087681 | 689 | R>Q | DEDHIL; decreased protein abundance; no effect on proteasome-mediated ubiquitin-dependent protein catabolic process [UniProt] | Yes | UniProt |
| VAR_087682 | 689 | R>W | DEDHIL [UniProt] | Yes | UniProt |
|
rs139074724 CA3106584 |
6 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358620864 rs1560865017 |
9 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA358620851 rs1456547174 |
10 | S>R | No |
ClinGen gnomAD |
|
|
COSM29768 COSM206733 rs781123562 CA108595474 |
13 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA358620834 rs1471232420 |
13 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1362274408 CA358620830 COSM1052150 COSM1052151 |
14 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM206732 rs200698994 COSM206731 CA3106583 |
14 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs541979458 RCV000121055 |
15 | T>P | No |
ClinVar dbSNP |
|
|
CA3106580 rs778748560 |
18 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115679616 RCV000121057 CA159656 |
20 | R>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3106579 rs548137658 |
21 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376591844 CA108595472 |
26 | S>R | No |
ClinGen ESP TOPMed |
|
|
CA108595471 rs1019191519 |
27 | Q>R | No |
ClinGen TOPMed |
|
|
CA3106578 rs535906025 |
30 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 33 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3106576 rs751626529 COSM3738522 |
35 | R>C | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3106575 rs199629238 |
35 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199629238 CA358620691 |
35 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358620674 rs758603153 |
38 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1026105131 CA108595469 |
38 | E>D | No |
ClinGen TOPMed |
|
|
rs758603153 CA3106574 |
38 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA108595468 rs1036262056 |
39 | E>G | No |
ClinGen TOPMed |
|
|
CA358620672 rs1382805117 |
39 | E>K | No |
ClinGen gnomAD |
|
|
rs1462136302 CA358620663 |
40 | E>K | No |
ClinGen gnomAD |
|
|
CA3106572 rs765487207 |
42 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3106571 rs532252384 |
44 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1472384625 CA358620615 |
46 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1242496512 CA358620604 |
48 | Q>E | No |
ClinGen gnomAD |
|
|
rs1181262938 CA358620600 |
48 | Q>H | No |
ClinGen TOPMed |
|
|
CA358620603 rs1378531757 |
48 | Q>L | No |
ClinGen gnomAD |
|
|
rs1331482126 CA358620593 |
49 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358620565 rs1376951772 |
53 | T>A | No |
ClinGen TOPMed |
|
|
rs764549603 CA3106568 |
53 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA108595466 rs1054734078 |
54 | A>V | No |
ClinGen gnomAD |
|
|
CA358620538 rs1231840253 |
57 | G>D | No |
ClinGen gnomAD |
|
|
rs1051105488 CA108595464 |
59 | V>A | No |
ClinGen TOPMed |
|
|
CA108595465 rs776570870 |
59 | V>L | No |
ClinGen Ensembl |
|
|
rs1394417291 CA358620506 |
62 | V>G | No |
ClinGen gnomAD |
|
|
rs774922538 CA3106566 |
65 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs767051728 CA3106565 |
66 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1325241640 CA358620440 |
72 | S>C | No |
ClinGen gnomAD |
|
|
rs1441810151 CA358620430 |
73 | Q>H | No |
ClinGen gnomAD |
|
|
rs1307578120 CA358620424 |
74 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 75 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770525404 CA3106562 |
76 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3106560 rs139738471 |
81 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3106559 rs769663821 |
82 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs138203389 CA3106558 |
83 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs990700276 CA108595462 |
84 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA358620349 rs1227575884 |
85 | I>V | No |
ClinGen TOPMed |
|
|
rs1193694685 CA358620341 |
86 | S>A | No |
ClinGen gnomAD |
|
|
COSM3825380 CA3106557 rs780061054 COSM3825379 |
86 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3106555 rs745883259 |
87 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs779300038 CA3106554 |
91 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA108595461 rs977637174 |
94 | N>I | No |
ClinGen TOPMed |
|
|
rs977637174 CA358620289 |
94 | N>T | No |
ClinGen TOPMed |
|
|
CA3106550 CA3106551 rs756647667 |
95 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA358620281 rs1382361753 |
95 | Q>R | No |
ClinGen gnomAD |
|
|
CA3106548 rs1553971423 |
98 | Q>E | No |
ClinGen Ensembl |
|
|
rs767856434 CA3106546 |
101 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767856434 CA358620237 COSM1580891 COSM1580892 |
101 | D>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs753254246 CA3106547 |
101 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358620227 rs1323999347 |
102 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759071625 CA3106545 |
103 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3106544 rs754765931 |
104 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754765931 CA108595460 |
104 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358620205 rs1330610544 |
106 | G>C | No |
ClinGen gnomAD |
|
|
CA3106543 rs766056530 |
108 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
rs1174109427 CA358620182 |
109 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 109 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358620158 rs1190157909 |
112 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA108595458 rs144788317 |
112 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3106541 rs144788317 |
112 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3106542 rs762567267 |
112 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3106540 rs769623850 COSM206730 COSM206729 |
113 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1234312911 CA358620146 |
114 | E>G | No |
ClinGen gnomAD |
|
|
CA108595457 VAR_017812 rs6816935 |
115 | E>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
VAR_033030 CA108595456 rs991177157 |
117 | E>K | a breast cancer sample; somatic mutation [UniProt] | No |
ClinGen UniProt TOPMed dbSNP |
|
CA358620116 rs1482240339 |
118 | M>T | No |
ClinGen gnomAD |
|
|
CA108595455 rs200988301 |
119 | D>H | No |
ClinGen gnomAD |
|
|
rs1219170764 CA358620103 |
120 | Q>E | No |
ClinGen TOPMed |
|
|
rs747829333 CA3106535 |
123 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3106532 rs745975806 |
124 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3106533 rs768666009 |
124 | D>N | No |
ClinGen ExAC |
|
|
CA108595454 rs936075666 |
126 | D>E | No |
ClinGen TOPMed |
|
|
CA358620045 rs1218769489 |
127 | Q>H | No |
ClinGen gnomAD |
|
|
rs1374308681 CA358620041 |
128 | S>F | No |
ClinGen gnomAD |
|
|
CA3106531 rs779114193 |
129 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3106530 rs560656216 |
131 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
VAR_017813 rs6842544 RCV000121056 CA159654 |
133 | R>G | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 133 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777791851 CA3106528 |
136 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3106527 rs756518443 |
137 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA358619962 rs768104958 |
139 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3106525 rs768104958 |
139 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358619958 rs1447762545 |
140 | T>A | No |
ClinGen TOPMed |
|
|
rs912184866 CA108595453 |
140 | T>I | No |
ClinGen gnomAD |
|
|
rs1409537457 CA358619952 |
141 | N>D | No |
ClinGen gnomAD |
|
|
rs1309461162 CA358619918 |
144 | T>A | No |
ClinGen gnomAD |
|
|
rs7660281 CA3106524 |
144 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3106523 rs7660281 VAR_017814 |
144 | T>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3106521 rs762658371 |
146 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA358619856 rs1368147718 |
148 | S>T | No |
ClinGen gnomAD |
|
|
rs750091488 CA3106520 |
149 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3106519 rs544340935 |
150 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs587778350 CA358619778 |
153 | P>H | No |
ClinGen TOPMed |
|
|
CA159658 rs587778350 RCV000121058 |
153 | P>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs950959848 CA108595451 |
153 | P>S | No |
ClinGen Ensembl |
|
|
CA3106516 rs768753889 |
154 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138477494 CA3106517 |
154 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3106515 rs200825042 |
155 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1427905 rs774640620 COSM1427904 CA358619726 |
156 | Q>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 157 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3106513 rs368442206 |
158 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3106512 rs749270709 |
159 | S>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000121059 CA159660 COSM1580889 COSM1580890 rs147025249 |
160 | P>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769870370 CA3106511 |
161 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA108595450 rs199923034 |
162 | Y>C | No |
ClinGen Ensembl |
|
|
CA358619634 rs1156358876 |
162 | Y>H | No |
ClinGen gnomAD |
|
|
CA358619524 rs1166084448 |
167 | K>E | No |
ClinGen gnomAD |
|
|
CA358616127 rs1412342746 |
171 | K>N | No |
ClinGen gnomAD |
|
|
CA358616100 rs1450093163 |
175 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1149858 COSM732370 rs1207004877 COSM732369 CA358616075 |
179 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM260909 rs201753217 COSM260908 CA3106385 |
179 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA358616067 rs1265788422 |
180 | S>F | No |
ClinGen gnomAD |
|
|
CA3106384 rs774108258 |
181 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA108588812 rs866145254 |
184 | G>* | No |
ClinGen Ensembl |
|
|
rs753015000 CA108588811 |
187 | P>L | No |
ClinGen gnomAD |
|
|
rs753015000 CA358616021 |
187 | P>R | No |
ClinGen gnomAD |
|
|
rs770911310 CA3106383 |
189 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA108588810 rs537815501 |
190 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
COSM1427899 CA108588809 COSM1427897 rs866774809 COSM1427896 |
191 | S>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3106382 COSM206717 COSM1580888 COSM96473 rs201015633 |
192 | E>A | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs202191840 CA3106381 |
194 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 195 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358615821 rs1473413902 |
196 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1409509428 CA358615819 |
196 | T>N | No |
ClinGen gnomAD |
|
|
rs769582024 CA3106343 |
198 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371752214 CA3106344 |
198 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358615800 rs1326577738 |
200 | V>I | No |
ClinGen TOPMed |
|
|
CA358615798 rs1326577738 |
200 | V>L | No |
ClinGen TOPMed |
|
|
rs1268296868 CA358615790 |
201 | P>Q | No |
ClinGen gnomAD |
|
|
rs1578946930 CA358615785 |
202 | C>F | No |
ClinGen Ensembl |
|
|
rs1239394845 CA358615777 |
203 | S>L | No |
ClinGen gnomAD |
|
|
rs189772026 CA3106338 |
204 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3106337 rs143118227 |
206 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA358615736 rs1185305105 |
210 | G>W | No |
ClinGen TOPMed |
|
|
CA358615729 rs1578946829 |
211 | D>A | No |
ClinGen Ensembl |
|
|
rs1578946814 CA358615710 |
214 | A>P | No |
ClinGen Ensembl |
|
|
CA3106336 rs746085490 |
216 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1236892351 CA358615683 |
218 | Q>P | No |
ClinGen TOPMed |
|
|
rs757654949 CA3106334 |
219 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358615661 rs1459045148 |
221 | Q>R | No |
ClinGen gnomAD |
|
|
COSM1206879 COSM1206881 rs920052554 COSM1206878 CA108588523 |
222 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs752259687 CA3106330 |
223 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3106329 rs185892035 |
223 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM96318 CA358615650 rs185892035 |
223 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
| TCGA novel | 223 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1052139 COSM22970 rs1406877044 CA358615648 COSM1154297 |
224 | R>* | lung large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM1206909 CA108588522 COSM1052136 rs752114536 COSM1052137 |
224 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1397908027 CA358615644 |
225 | I>V | No |
ClinGen TOPMed |
|
|
rs1332769655 CA358615638 |
226 | T>A | No |
ClinGen TOPMed |
|
|
rs1248128867 CA358615600 |
232 | T>P | No |
ClinGen gnomAD |
|
|
rs1443586942 CA358615591 |
233 | G>A | No |
ClinGen TOPMed |
|
|
rs751222292 CA3106327 |
233 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs765894146 CA3106326 |
234 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 234 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 239 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 240 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA108587567 rs368613046 |
243 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA358615506 rs1560774856 |
243 | S>N | No |
ClinGen Ensembl |
|
|
CA358615503 rs1560774845 |
243 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 252 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 252 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358615421 rs1332564623 |
255 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358615398 rs1439837621 |
258 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393933844 CA358615349 |
265 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1578913581 CA358615343 |
266 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 267 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358615331 rs1172754641 |
267 | H>R | No |
ClinGen gnomAD |
|
|
rs1343017280 CA358615311 |
269 | M>I | No |
ClinGen TOPMed |
|
|
rs764074483 CA3106302 |
271 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 274 | P>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 280 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 280 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490325931 CA358615196 |
286 | K>E | No |
ClinGen gnomAD |
|
|
rs1560768299 CA358615163 |
288 | L>F | No |
ClinGen Ensembl |
|
|
rs1444335835 CA358615160 |
289 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA108587069 rs948405432 |
291 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs369187069 CA3106289 |
291 | Y>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA108587067 COSM30597 rs112892452 |
298 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3106288 rs750051282 |
299 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 300 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150506693 CA3106286 |
302 | L>I | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 305 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358615047 rs1313498486 |
307 | T>A | No |
ClinGen TOPMed |
|
|
CA3106284 rs764174613 |
307 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1217890531 CA358615035 |
309 | R>C | No |
ClinGen TOPMed |
|
|
CA3106283 rs760675122 |
309 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 313 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369661240 CA358614962 |
319 | L>I | No |
ClinGen gnomAD |
|
|
CA358614907 rs773325030 |
326 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3106279 rs773325030 |
326 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3106278 rs148769501 |
327 | E>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA358619934 rs1358178925 |
329 | G>E | No |
ClinGen gnomAD |
|
|
rs767438108 CA358619924 |
330 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767438108 CA3106260 |
330 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358619901 rs1183122092 |
331 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1207038641 CA358619854 |
335 | H>P | No |
ClinGen TOPMed |
|
|
rs1046708929 CA108586896 |
336 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3106258 rs750480880 |
337 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1185005670 CA358619822 |
338 | R>K | No |
ClinGen gnomAD |
|
|
CA358619792 rs1184695126 |
340 | K>N | No |
ClinGen TOPMed |
|
|
CA358619783 rs1485389861 |
341 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765495879 CA3106257 |
342 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1247097813 CA358619779 |
342 | I>V | No |
ClinGen gnomAD |
|
|
CA108586895 rs949285009 |
344 | P>R | No |
ClinGen TOPMed |
|
|
rs762013076 CA3106256 |
347 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA108586894 rs267600040 |
351 | W>* | No |
ClinGen Ensembl |
|
|
rs1245385235 CA358619625 |
356 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 357 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1014611334 CA108586893 |
359 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1381320045 CA358619552 |
363 | T>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 363 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358619551 rs1381320045 |
363 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3106252 rs775885576 |
364 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745418631 CA3106250 |
367 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3106248 rs761747465 |
371 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3106249 COSM1666340 COSM1666337 COSM1666338 rs761747465 |
371 | K>T | eye [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748952220 CA3106247 |
373 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937391131 CA108586891 |
374 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1321798767 CA358619379 |
375 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 377 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329859000 CA358619359 |
378 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 380 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 384 | I>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1309813 COSM1309815 rs866269762 CA108586783 COSM1309812 |
385 | T>K | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1338105130 CA358619298 |
387 | L>V | No |
ClinGen gnomAD |
|
|
COSM1427802 rs1390822119 CA358619252 COSM1427801 COSM1427804 |
393 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 396 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 405 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560763689 CA358619153 |
407 | S>L | No |
ClinGen Ensembl |
|
|
rs1560763656 CA358619132 |
411 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 411 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755422880 CA3106198 |
418 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1052099 COSM1052098 CA3106197 rs755422880 COSM1594353 |
418 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 418 | V>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1052095 COSM1154295 COSM22984 CA358619037 rs1157879635 |
423 | G>V | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3106195 rs767037353 |
425 | W>* | No |
ClinGen ExAC gnomAD |
|
|
COSM420166 rs1316840275 CA358619017 COSM420165 COSM1133713 |
426 | S>L | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1359222927 CA358618984 |
431 | D>H | No |
ClinGen gnomAD |
|
|
rs1161192142 CA358618980 |
431 | D>V | No |
ClinGen gnomAD |
|
|
rs772668762 CA3106193 |
432 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs761173677 CA3106192 |
433 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345338926 CA358618968 |
433 | I>N | No |
ClinGen TOPMed |
|
|
CA3106191 rs761173677 |
433 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190126709 CA358618957 |
435 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 436 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 445 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776371212 CA3106190 |
445 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs778238072 CA108586654 |
454 | I>V | No |
ClinGen Ensembl |
|
|
CA3106187 rs775244232 |
456 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA358618803 rs1433184454 |
457 | L>F | No |
ClinGen gnomAD |
|
|
CA3106186 rs772056210 |
459 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 463 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358618736 rs1390272734 |
468 | H>R | No |
ClinGen gnomAD |
|
|
CA108586652 rs979863616 |
468 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 469 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169241042 CA358618724 |
470 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM305935 rs756238684 CA3106183 COSM305937 |
471 | E>G | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 475 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358618323 rs1578875354 |
482 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 482 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194563625 CA358618313 |
483 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 485 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325363774 CA358618304 |
485 | V>I | No |
ClinGen gnomAD |
|
|
CA358618286 rs1281183406 |
487 | D>A | No |
ClinGen gnomAD |
|
|
rs1222797439 CA358618277 |
488 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 492 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3106157 rs750717620 |
495 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 497 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334352027 CA358618138 |
509 | Y>C | No |
ClinGen gnomAD |
|
|
CA358618101 rs1578875138 |
514 | V>G | No |
ClinGen Ensembl |
|
|
CA3106155 rs757683191 |
515 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179476070 CA358617973 |
532 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 540 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184403966 CA358617913 |
541 | T>S | No |
ClinGen gnomAD |
|
|
rs1462861861 CA358617905 |
542 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 543 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 543 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 544 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358617884 COSM1052084 rs1560758208 COSM1154289 COSM22989 |
545 | Y>C | large_intestine Variant assessed as Somatic; impact. endometrium breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 547 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1001597080 CA108586268 |
551 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 553 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1024060344 CA108586267 |
564 | R>C | No |
ClinGen gnomAD |
|
|
rs1304288466 CA358617743 |
564 | R>H | No |
ClinGen gnomAD |
|
|
rs1178936990 CA358617714 |
568 | V>A | No |
ClinGen TOPMed |
|
|
CA358617656 rs1429385222 |
576 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 581 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_035881 | 582 | S>L | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
COSM1137143 COSM480956 rs1269436440 CA358617581 |
587 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3106131 rs751435265 |
588 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358617578 rs1224653860 |
588 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358617564 rs1560755831 |
590 | K>E | No |
ClinGen Ensembl |
|
|
rs1290448722 CA358617561 |
590 | K>R | No |
ClinGen gnomAD |
|
|
CA358617540 rs1560755820 |
593 | I>V | No |
ClinGen Ensembl |
|
|
rs766088325 CA3106130 |
599 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA358617369 rs1465944801 |
617 | L>F | No |
ClinGen TOPMed |
|
|
CA358617341 rs1375643251 |
620 | P>A | No |
ClinGen gnomAD |
|
|
rs1375643251 CA358617340 |
620 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 621 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 632 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758163453 CA3106111 |
633 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358617236 rs1199177582 |
634 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs750215508 CA3106110 |
636 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 640 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 643 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA108586152 rs1029868423 |
645 | T>S | No |
ClinGen TOPMed |
|
|
CA108586151 rs998428097 |
651 | L>S | No |
ClinGen Ensembl |
|
|
CA358617113 rs1182453513 |
652 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 653 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3106107 rs775781675 |
653 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA108586150 rs775781675 |
653 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1176237755 CA358617084 |
656 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1176237755 CA358617086 |
656 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs144247898 CA108586149 |
658 | R>G | No |
ClinGen Ensembl |
|
|
rs974902950 CA108586148 |
662 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs957874517 CA358617028 |
665 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA108586147 rs957874517 |
665 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs7679116 VAR_017817 CA108586146 |
668 | S>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs961642075 CA108586145 |
668 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 669 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358616969 rs1446303596 |
675 | I>V | No |
ClinGen gnomAD |
|
|
CA3106098 rs781679859 |
677 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746489993 CA3106096 |
679 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 682 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358616897 rs1307998016 |
686 | V>I | No |
ClinGen gnomAD |
|
|
rs1237327125 CA358616870 |
690 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 691 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 702 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA108586142 rs966641557 |
703 | D>V | No |
ClinGen TOPMed |
|
|
CA108586141 rs1020295170 |
704 | V>A | No |
ClinGen TOPMed |
|
|
rs764051432 CA3106089 |
706 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759573736 CA3106088 |
707 | K>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q969H0
10 regional properties for Q969H0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 369 - 701 | IPR001680 |
| domain | F-box domain | 278 - 325 | IPR001810 |
| conserved_site | WD40 repeat, conserved site | 434 - 448 | IPR019775-1 |
| conserved_site | WD40 repeat, conserved site | 474 - 488 | IPR019775-2 |
| conserved_site | WD40 repeat, conserved site | 554 - 568 | IPR019775-3 |
| conserved_site | WD40 repeat, conserved site | 594 - 608 | IPR019775-4 |
| conserved_site | WD40 repeat, conserved site | 637 - 651 | IPR019775-5 |
| repeat | G-protein beta WD-40 repeat | 474 - 488 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 594 - 608 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 637 - 651 | IPR020472-3 |
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| 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. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
| Parkin-FBXW7-Cul1 ubiquitin ligase complex | A ubiquitin ligase complex containing Parkin (PARK2), the F-box protein FBXW7 (also called SEL-10) and a cullin from the Cul1 subfamily; substrate specificity is conferred by the F-box protein. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| 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. |
| SCF ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1). |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| cyclin binding | Binding to cyclins, proteins whose levels in a cell varies markedly during the cell cycle, rising steadily until mitosis, then falling abruptly to zero. As cyclins reach a threshold level, they are thought to drive cells into G2 phase and thus to mitosis. |
| identical protein binding | Binding to an identical protein or proteins. |
| phosphothreonine residue binding | Binding to a phosphorylated threonine residue within a protein. |
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| ubiquitin-protein transferase activator activity | Binds to and increases the activity of a ubiquitin-protein transferase, an enzyme that catalyzes the covalent attachment of ubiquitin to lysine in a substrate protein. |
37 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage 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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to UV | 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 ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| lipid homeostasis | Any process involved in the maintenance of an internal steady state of lipid within an organism or cell. |
| lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
| 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 hepatocyte proliferation | Any process that stops, prevents or reduces the frequency, rate or extent of hepatocyte proliferation. |
| negative regulation of Notch signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the Notch signaling pathway. |
| negative regulation of osteoclast development | Any process that stops, prevents or reduces the frequency, rate or extent of osteoclast development. |
| negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding | Any process that stops, prevents or reduces the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. |
| negative regulation of SREBP signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of the SREBP signaling pathway. |
| negative regulation of triglyceride biosynthetic process | Any process that decreases the rate, frequency, or extent of triglyceride biosynthesis. Triglyceride biosynthesis is the collection of chemical reactions and pathways resulting in the formation of triglyceride, any triester of glycerol. |
| Notch signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of epidermal growth factor-activated receptor activity | Any process that activates or increases the frequency, rate or extent of EGF-activated receptor activity. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of oxidative stress-induced neuron intrinsic apoptotic signaling pathway. |
| positive regulation of proteasomal protein catabolic process | Any process that activates or increases the frequency, rate or extent of proteasomal protein catabolic process. |
| positive regulation of protein targeting to mitochondrion | Any process that activates or increases the frequency, rate or extent of protein targeting to mitochondrion. |
| positive regulation of protein ubiquitination | Any process that activates or increases the frequency, rate or extent of the addition of ubiquitin groups to a protein. |
| positive regulation of ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of ubiquitin-dependent protein catabolic process. |
| positive regulation of ubiquitin-protein transferase activity | Any process that activates, maintains or increases the rate of ubiquitin transferase activity. |
| 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 destabilization | Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of autophagy of mitochondrion | Any process that modulates the frequency, rate or extent of mitochondrion degradation by an autophagic process. |
| regulation of cell cycle G1/S phase transition | Any signalling pathway that modulates the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle. |
| regulation of cell migration involved in sprouting angiogenesis | Any process that modulates the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis. |
| regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
| regulation of lipid storage | Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. |
| regulation of protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
| rhythmic process | Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. |
| SCF-dependent proteasomal 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, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome. |
| sister chromatid cohesion | The cell cycle process in which the sister chromatids of a replicated chromosome become tethered to each other. |
| ubiquitin recycling | Any process involved in the maintenance of an internal steady state of ubiquitin monomers and free ubiquitin chains at the level of the cell by recycling ubiquitin from proteasome-bound ubiquitinated intermediates. |
| vasculature development | The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. |
| vasculogenesis | The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P36037 | DOA1 | Protein DOA1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8N3Y1 | FBXW8 | F-box/WD repeat-containing protein 8 | Homo sapiens (Human) | PR |
| Q008S8 | ECT2L | Epithelial cell-transforming sequence 2 oncogene-like | Homo sapiens (Human) | PR |
| Q8BIA4 | Fbxw8 | F-box/WD repeat-containing protein 8 | Mus musculus (Mouse) | PR |
| Q9QZM9 | Fbxo16 | F-box only protein 16 | Mus musculus (Mouse) | PR |
| P0DL28 | Fbxw8 | F-box/WD repeat-containing protein 8 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNQELLSVGS | KRRRTGGSLR | GNPSSSQVDE | EQMNRVVEEE | QQQQLRQQEE | EHTARNGEVV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GVEPRPGGQN | DSQQGQLEEN | NNRFISVDED | SSGNQEEQEE | DEEHAGEQDE | EDEEEEEMDQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ESDDFDQSDD | SSREDEHTHT | NSVTNSSSIV | DLPVHQLSSP | FYTKTTKMKR | KLDHGSEVRS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSLGKKPCKV | SEYTSTTGLV | PCSATPTTFG | DLRAANGQGQ | QRRRITSVQP | PTGLQEWLKM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FQSWSGPEKL | LALDELIDSC | EPTQVKHMMQ | VIEPQFQRDF | ISLLPKELAL | YVLSFLEPKD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLQAAQTCRY | WRILAEDNLL | WREKCKEEGI | DEPLHIKRRK | VIKPGFIHSP | WKSAYIRQHR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IDTNWRRGEL | KSPKVLKGHD | DHVITCLQFC | GNRIVSGSDD | NTLKVWSAVT | GKCLRTLVGH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TGGVWSSQMR | DNIIISGSTD | RTLKVWNAET | GECIHTLYGH | TSTVRCMHLH | EKRVVSGSRD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ATLRVWDIET | GQCLHVLMGH | VAAVRCVQYD | GRRVVSGAYD | FMVKVWDPET | ETCLHTLQGH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TNRVYSLQFD | GIHVVSGSLD | TSIRVWDVET | GNCIHTLTGH | QSLTSGMELK | DNILVSGNAD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| STVKIWDIKT | GQCLQTLQGP | NKHQSAVTCL | QFNKNFVITS | SDDGTVKLWD | LKTGEFIRNL |
| 670 | 680 | 690 | 700 | ||
| VTLESGGSGG | VVWRIRASNT | KLVCAVGSRN | GTEETKLLVL | DFDVDMK |