AiPD: Autoinhibited Protein Database

Q12797

Gene name	ASPH (BAH)
Protein name	Aspartyl/asparaginyl beta-hydroxylase
Names	Aspartate beta-hydroxylase, ASP beta-hydroxylase, Peptide-aspartate beta-dioxygenase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:444
EC number	1.14.11.16: With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-72 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-72 (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

27 structures for Q12797

Entry ID	Method	Resolution	Chain	Position	Source
5APA	X-ray	205 A	A	562-758	PDB
5JQY	X-ray	199 A	A	330-758	PDB
5JTC	X-ray	224 A	A	330-758	PDB
5JZ6	X-ray	235 A	A	330-758	PDB
5JZ8	X-ray	210 A	A	330-758	PDB
5JZA	X-ray	214 A	A	330-758	PDB
5JZU	X-ray	250 A	A	330-758	PDB
6Q9F	X-ray	163 A	A	330-758	PDB
6Q9I	X-ray	185 A	A	330-758	PDB
6QA5	X-ray	265 A	A	330-758	PDB
6RK9	X-ray	229 A	A/B	330-758	PDB
6YYU	X-ray	211 A	A	330-758	PDB
6YYV	X-ray	177 A	A	330-758	PDB
6YYW	X-ray	227 A	A	330-758	PDB
6YYX	X-ray	153 A	A	330-758	PDB
6YYY	X-ray	229 A	A	330-758	PDB
6Z6Q	X-ray	181 A	A	330-758	PDB
6Z6R	X-ray	213 A	A	330-758	PDB
7BMI	X-ray	166 A	A	330-758	PDB
7BMJ	X-ray	175 A	A/C	330-758	PDB
7E6J	X-ray	190 A	A	330-758	PDB
7YB8	X-ray	198 A	A	330-758	PDB
7YB9	X-ray	154 A	A	329-758	PDB
7YBA	X-ray	186 A	A	330-758	PDB
7YBB	X-ray	168 A	A	330-758	PDB
7YBC	X-ray	184 A	A	330-758	PDB
AF-Q12797-F1	Predicted				AlphaFoldDB

640 variants for Q12797

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA371329328 RCV000761586 rs1563580963	57	W>*	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs879255574 RCV000125463	618	N>missing	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [ClinVar]	Yes	ClinVar dbSNP
CA4761483 VAR_071821 COSM1100938 rs374385878 RCV000125464	735	R>W	Variant assessed as Somatic; 0.0 impact. endometrium Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome FDLAB [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA371323563 rs1156856315	4	R>C		No	ClinGen gnomAD
rs1472259132 CA371323553	5	K>E		No	ClinGen TOPMed gnomAD
rs1472259132 CA371323555	5	K>Q		No	ClinGen TOPMed gnomAD
rs1269670385 CA371323526	6	N>K		No	ClinGen gnomAD
CA178334298 rs960037266	7	A>T		No	ClinGen TOPMed
TCGA novel	7	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1201733540 CA371323472	8	K>R		No	ClinGen gnomAD
CA4762587 rs539978373	9	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4762588 rs539978373	9	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA178334260 rs979705559	12	N>S		No	ClinGen Ensembl
CA371323283 rs1487055560	14	S>N		No	ClinGen gnomAD
CA4762584 rs747090114	16	S>I		No	ClinGen ExAC TOPMed gnomAD
CA4762585 rs755173683	16	S>R		No	ClinGen ExAC TOPMed gnomAD
CA371323131 rs1328944258	19	G>C		No	ClinGen gnomAD
rs11541430 CA178334214	20	S>T		No	ClinGen Ensembl
rs572462553 CA178334212	21	G>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs1322483666 CA371323093	21	G>R		No	ClinGen gnomAD
rs1322483666 CA371323097	21	G>S		No	ClinGen gnomAD
rs572462553 CA371323080	21	G>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA371323048 rs1390549756	22	S>T		No	ClinGen gnomAD
CA371323012 rs1318355055	23	T>K		No	ClinGen TOPMed gnomAD
rs1318355055 CA371323014	23	T>M		No	ClinGen TOPMed gnomAD
CA371323025 rs1488281920	23	T>S		No	ClinGen TOPMed
CA371322983 rs1455503951	24	S>R		No	ClinGen TOPMed
rs1429945749 CA371322971	25	A>V		No	ClinGen gnomAD
rs1019837641 CA371322957	26	G>C		No	ClinGen TOPMed gnomAD
rs1019837641 CA178334177	26	G>R		No	ClinGen TOPMed gnomAD
rs1430579211 CA371322933	27	S>R		No	ClinGen gnomAD
rs758712450 CA4762580	27	S>R		No	ClinGen ExAC TOPMed gnomAD
CA371322818 rs1201612921	31	G>E		No	ClinGen gnomAD
CA371322834 rs1265564823	31	G>R		No	ClinGen gnomAD
CA371322806 rs1329239557	32	A>D		No	ClinGen TOPMed gnomAD
CA371322811 rs1342260234	32	A>T		No	ClinGen TOPMed gnomAD
rs1329239557 CA371322804	32	A>V		No	ClinGen TOPMed gnomAD
CA371322800 rs1288784411	33	R>G		No	ClinGen TOPMed
rs1227680182 CA371322786	33	R>L		No	ClinGen gnomAD
CA371322797 rs1288784411	33	R>W		No	ClinGen TOPMed
rs1029237560 CA178334137	34	R>I		No	ClinGen TOPMed
rs1295077864 CA371322763	35	E>K		No	ClinGen gnomAD
rs1589162319 CA371329469	35	E>V		No	ClinGen Ensembl
rs1224231481 CA371329454	37	K>N		No	ClinGen gnomAD
rs762430211 CA4762541	38	H>R		No	ClinGen ExAC TOPMed gnomAD
rs750156526 CA4762540	42	K>Q		No	ClinGen ExAC gnomAD
rs201019731 CA4762539	43	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs776880681 CA4762537	44	G>E		No	ClinGen ExAC TOPMed gnomAD
rs769099285 CA4762536	45	R>K		No	ClinGen ExAC gnomAD
rs1214690073 CA371329396	46	K>T		No	ClinGen TOPMed
CA4762535 rs761300932	47	G>D		No	ClinGen ExAC gnomAD
CA4762533 rs772339597	48	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1202877763 COSM193750 CA371329387	48	G>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4762532 rs745933402	49	L>P		No	ClinGen ExAC gnomAD
TCGA novel	51	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371329365 rs1248380221	52	T>A		No	ClinGen TOPMed gnomAD
rs1464742802 CA371329355	53	S>*		No	ClinGen TOPMed
CA178358571 rs78393038	54	F>L		No	ClinGen TOPMed gnomAD
rs1210394578 CA371329345	55	F>L		No	ClinGen gnomAD
rs149440176 CA4762529	56	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA4762530 rs771075546	56	T>S		No	ClinGen ExAC gnomAD
rs779961202 CA4762526	59	M>K		No	ClinGen ExAC gnomAD
rs779961202 CA4762525	59	M>T		No	ClinGen ExAC gnomAD
rs371692559 CA178358532	60	V>L		No	ClinGen Ensembl
CA371329301 rs1241929093	61	I>T		No	ClinGen gnomAD
CA4762521 rs761398964	66	V>A		No	ClinGen ExAC TOPMed gnomAD
CA178358490 rs775335939	66	V>I		No	ClinGen gnomAD
rs764599709 CA4762519	67	W>*		No	ClinGen ExAC gnomAD
CA178358454 rs939966414	67	W>G		No	ClinGen TOPMed
rs776209404 CA4762517	71	A>G		No	ClinGen ExAC gnomAD
CA371329232 rs1390431979	73	V>A		No	ClinGen gnomAD
CA4762514 COSM1597732 COSM1100949 COSM1597733 rs774320459	73	V>I	Variant assessed as Somatic; 9.24e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4762515 rs774320459	73	V>L		No	ClinGen ExAC TOPMed gnomAD
rs138023523 CA4762511	77	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4762512 rs143476476	77	L>V		No	ClinGen ESP ExAC gnomAD
rs370627722 CA178358396	78	V>G		No	ClinGen ESP
rs768498732 CA4762510	80	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4762509 rs746810996	82	E>K		No	ClinGen ExAC gnomAD
rs779765042 CA4762508	83	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1209544826 CA371329160	84	L>V		No	ClinGen gnomAD
CA371329022 rs1342368808	86	K>R		No	ClinGen gnomAD
CA4762444 rs780504282	90	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA371328999 rs1563560726	90	Y>H		No	ClinGen Ensembl
CA178355462 rs559826777	91	D>V		No	ClinGen Ensembl
TCGA novel	93	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371328972 rs1344023344	94	G>S		No	ClinGen gnomAD
rs1448546126 CA371328943	98	F>I		No	ClinGen TOPMed
TCGA novel	98	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4762443 rs768375086	98	F>Y		No	ClinGen ExAC gnomAD
rs1341029164 CA371328933	99	D>G		No	ClinGen gnomAD
rs1336198288 CA371328923	101	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746601152 CA4762442	104	K>R		No	ClinGen ExAC TOPMed gnomAD
CA371328887 rs1375001031	106	L>V		No	ClinGen gnomAD
rs577511653 CA4762287	109	L>H		No	ClinGen 1000Genomes ExAC
CA4762288 rs756490083	109	L>I		No	ClinGen ExAC gnomAD
rs759903134 CA4762285	111	E>G		No	ClinGen ExAC gnomAD
rs1342991534 CA371326770	114	T>I		No	ClinGen gnomAD
CA371326771 rs1342991534	114	T>N		No	ClinGen gnomAD
CA371326774 rs1322738302	114	T>P		No	ClinGen gnomAD
rs1317176698 CA371326764	115	S>L		No	ClinGen gnomAD
rs1434999629 CA371326759	116	E>G		No	ClinGen gnomAD
CA371326755 rs751664216	117	P>S		No	ClinGen ExAC gnomAD
CA4762284 rs751664216	117	P>T		No	ClinGen ExAC gnomAD
rs773407540 CA4762281	120	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775085975 CA4762278	121	P>R		No	ClinGen ExAC TOPMed gnomAD
rs745753269 CA4762276	122	E>A		No	ClinGen ExAC gnomAD
rs1025081868 CA178332655	123	E>A		No	ClinGen Ensembl
TCGA novel	127	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371326691 rs1210628511	127	H>P		No	ClinGen gnomAD
rs543625862 CA4762274	128	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4762272 rs777565690	131	E>K		No	ClinGen ExAC TOPMed gnomAD
CA371326656 rs1310778002	132	E>G		No	ClinGen gnomAD
rs1376919890 CA371326660	132	E>Q		No	ClinGen gnomAD
rs374279734 CA4762269	133	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs139677107 CA4762268	134	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs767124655 CA4762267	136	V>M		No	ClinGen ExAC gnomAD
rs1225787380 CA371326484	140	P>L		No	ClinGen TOPMed gnomAD
rs1225787380 CA371326485	140	P>R		No	ClinGen TOPMed gnomAD
CA4762250 rs368498847	143	I>V		No	ClinGen ESP ExAC gnomAD
rs758840739 CA4762248	144	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	147	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370265187 CA371326433 COSM1457769	147	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA178330856 rs886249453	149	E>G		No	ClinGen Ensembl
rs1057382346 CA178330852	151	I>M		No	ClinGen Ensembl
rs991388933 CA178330850	152	Q>E		No	ClinGen TOPMed gnomAD
CA371326387 rs1216160002	154	L>H		No	ClinGen gnomAD
CA371326385 rs1216160002	154	L>R		No	ClinGen gnomAD
rs778800339 CA178330842	156	H>Q		No	ClinGen Ensembl
CA371326374 rs1435902631	156	H>R		No	ClinGen TOPMed
rs757538868 CA4762245	158	M>T		No	ClinGen ExAC gnomAD
rs1336269281 CA371326363	158	M>V		No	ClinGen gnomAD
COSM1100948 CA4762244 rs767403241	159	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4762243 rs767403241	159	V>L		No	ClinGen ExAC gnomAD
COSM1166092 rs77752382 CA4762241	161	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	161	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA178330817 rs1044501751	162	E>D		No	ClinGen Ensembl
CA371325502 rs1274178472	164	V>A		No	ClinGen gnomAD
rs773005532 CA371325458	166	G>*		No	ClinGen ExAC TOPMed gnomAD
rs764862417 CA4762212	166	G>E		No	ClinGen ExAC TOPMed gnomAD
rs773005532 CA4762213	166	G>R		No	ClinGen ExAC TOPMed gnomAD
rs764862417 CA178327523	166	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1293560634 CA371325436	167	E>K		No	ClinGen gnomAD
rs1399578745 CA371325418	167	E>V		No	ClinGen gnomAD
rs1376304095 CA371325401	168	D>N		No	ClinGen TOPMed gnomAD
rs1376304095 CA371325407	168	D>Y		No	ClinGen TOPMed gnomAD
CA4762211 rs761231039	169	L>M		No	ClinGen ExAC gnomAD
CA371325350 rs1437992235	170	Q>E		No	ClinGen TOPMed
CA371325339 rs1588604485	170	Q>L		No	ClinGen Ensembl
CA4762210 rs200220407	171	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4762208 rs746620978	172	E>G		No	ClinGen ExAC TOPMed gnomAD
CA371325286 rs1168978691	172	E>K		No	ClinGen TOPMed gnomAD
CA371325292 rs1168978691	172	E>Q		No	ClinGen TOPMed gnomAD
RCV000484490 rs80163539	173	D>missing		No	ClinVar dbSNP
CA371325192 rs1228104787	175	P>R		No	ClinGen TOPMed
CA371325168 rs1374256928	176	T>I		No	ClinGen gnomAD
CA4762205 rs3765163	177	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs913971218 CA178327462	178	E>K		No	ClinGen TOPMed gnomAD
CA4762204 rs746430806	179	P>L		No	ClinGen ExAC TOPMed gnomAD
CA371325096 rs1588603713	179	P>S		No	ClinGen Ensembl
CA4762203 rs370193581	180	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	181	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4762201 rs551740989	181	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA178327440 rs551740989	181	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4762198 rs373501060	183	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4762199 rs756436526	183	D>N		No	ClinGen ExAC gnomAD
CA371324956 rs1563366794	184	D>E		No	ClinGen Ensembl
CA371324951 rs1243759810	185	E>K		No	ClinGen TOPMed
rs758257075 CA4762195	186	F>L		No	ClinGen ExAC gnomAD
COSM3736470 CA4762193 rs143851903	188	M>T	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4762194 rs750444872	188	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs143436295 CA4762192 COSM1183789	189	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs760369329 CA4762189	190	T>S		No	ClinGen ExAC gnomAD
rs1163701116 CA371324825	191	D>H		No	ClinGen TOPMed
rs772490513 CA4762187	191	D>V		No	ClinGen ExAC gnomAD
rs1417292982 CA371324793	192	V>A		No	ClinGen TOPMed
CA178327343 rs372662604	192	V>I		No	ClinGen ESP
CA178327336 rs1056174161	194	D>N		No	ClinGen Ensembl
rs749764771 CA4762183	200	E>K		No	ClinGen ExAC gnomAD
CA371324643 rs1166606139	201	P>A		No	ClinGen gnomAD
CA371324639 rs1166606139	201	P>S		No	ClinGen gnomAD
CA371324620 rs1474039206	202	E>*		No	ClinGen gnomAD
CA178327296 rs1024887756	203	V>A		No	ClinGen TOPMed
rs1248317915 CA371324586	204	S>F		No	ClinGen TOPMed gnomAD
CA178327294 rs991765865	204	S>P		No	ClinGen TOPMed gnomAD
CA371324263 rs1275766350	207	E>D		No	ClinGen TOPMed
CA371324540 rs1247046948	207	E>K		No	ClinGen TOPMed
rs748247014 CA4762155	208	T>I		No	ClinGen ExAC gnomAD
CA4762152 rs778618542	209	E>G		No	ClinGen ExAC TOPMed gnomAD
rs201124803 CA4762153 COSM1100946	209	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4762151 rs778618542	209	E>V		No	ClinGen ExAC TOPMed gnomAD
CA4762150 rs757059899	210	H>D		No	ClinGen ExAC gnomAD
CA4762149 rs749287680	210	H>R		No	ClinGen ExAC TOPMed gnomAD
rs752226869 CA178326051	214	V>L		No	ClinGen ExAC TOPMed gnomAD
rs752226869 CA4762146	214	V>M		No	ClinGen ExAC TOPMed gnomAD
CA4762144 rs117730298	216	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA178326040 rs764808468	217	T>I		No	ClinGen Ensembl
rs780617071 CA4762128	219	S>L		No	ClinGen ExAC gnomAD
CA4762127 rs754501113	220	Q>R		No	ClinGen ExAC gnomAD
CA371322603 rs1273029835	221	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371322551 rs1358083484	223	N>H		No	ClinGen TOPMed
CA4762126 rs751239592	224	Q>R		No	ClinGen ExAC gnomAD
rs747996627 CA178325563	225	D>N		No	ClinGen Ensembl
rs766064099 CA4762125	226	M>I		No	ClinGen ExAC gnomAD
rs1337861965 CA371322476	226	M>V		No	ClinGen gnomAD
rs983353116 CA178325557	228	E>G		No	ClinGen gnomAD
rs757932875 CA4762124	228	E>K		No	ClinGen ExAC gnomAD
CA371322328 rs1357096438	229	M>V		No	ClinGen gnomAD
CA371322316 rs1447122556	230	M>K		No	ClinGen gnomAD
rs1300886728 CA371322319	230	M>V		No	ClinGen gnomAD
rs1243331944 CA371322305	232	E>K		No	ClinGen TOPMed
rs750845094 CA4762123	232	E>V		No	ClinGen ExAC gnomAD
TCGA novel	233	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4762122 rs762456223	236	P>A		No	ClinGen ExAC gnomAD
CA4762121 rs762456223	236	P>T		No	ClinGen ExAC gnomAD
CA371322100 rs1213774386	239	S>N		No	ClinGen gnomAD
CA371321980 rs1489214050	240	E>G		No	ClinGen gnomAD
CA4762104 rs757690793	242	V>A		No	ClinGen ExAC gnomAD
rs757690793 CA4762103	242	V>E		No	ClinGen ExAC gnomAD
CA4762105 rs750074460	242	V>I		No	ClinGen ExAC gnomAD
rs76076022 CA178325216	244	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs78130457 CA178325212	244	E>A		No	ClinGen Ensembl
CA4762100 CA4762101 rs138586020	244	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4762102 rs76076022	244	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs79779124 CA371321890	245	D>G		No	ClinGen gnomAD
rs79779124 CA178325207	245	D>V		No	ClinGen gnomAD
CA371321901 rs1237803655	245	D>Y		No	ClinGen gnomAD
CA371321872 rs1407464239	246	E>D		No	ClinGen TOPMed
CA4762099 rs373896228	247	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs866667898 CA178325204	249	H>Y		No	ClinGen Ensembl
CA371321834 rs1344945334	250	H>Q		No	ClinGen TOPMed
CA178325197 rs767463504	252	T>A		No	ClinGen ExAC TOPMed gnomAD
rs150141171 CA4762097	252	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1457767 CA4762098 rs767463504	252	T>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA371321798 rs1451930508	253	D>N		No	ClinGen TOPMed
rs1340354882 CA371321644	254	D>E		No	ClinGen TOPMed
CA4762071 rs141764975	254	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4762070 rs776524870	254	D>V		No	ClinGen ExAC gnomAD
rs1375377728 CA371321633	255	V>E		No	ClinGen gnomAD
CA371321593 rs1283502249	257	Y>*		No	ClinGen TOPMed gnomAD
rs200715677 CA4762069	258	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1208418451 CA371321560	259	V>G		No	ClinGen TOPMed
CA4762067 rs775282497	261	E>K		No	ClinGen ExAC gnomAD
rs1280832138 CA371321506	262	E>*		No	ClinGen gnomAD
CA371321464 rs1342815092	263	Q>E		No	ClinGen gnomAD
CA4762007 rs765389479	265	V>I		No	ClinGen ExAC gnomAD
rs752570668 CA4762005	269	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1488054790 CA371328799	272	E>D		No	ClinGen TOPMed
rs767388835 CA4762004	272	E>K		No	ClinGen ExAC gnomAD
CA4762002 rs751530262	274	I>V		No	ClinGen ExAC TOPMed gnomAD
rs765981950 CA4762001	275	E>K		No	ClinGen ExAC gnomAD
CA4761983 rs766243478	278	E>A		No	ClinGen ExAC gnomAD
rs1477784606 CA371328247	279	V>I		No	ClinGen TOPMed gnomAD
CA371328244 rs1477784606 CA371328243	279	V>L		No	ClinGen TOPMed gnomAD
RCV001700499 RCV000891278 CA4761981 rs141197241	282	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4761980 rs764777027	286	N>D		No	ClinGen ExAC gnomAD
rs372802079 CA4761979	287	P>T		No	ClinGen ESP ExAC gnomAD
rs1314472672 CA371328128	288	V>A		No	ClinGen TOPMed gnomAD
rs146557853 CA4761978	288	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4761977 rs146557853	288	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4761976 rs181711913	290	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1280039637 CA371328114	290	D>V		No	ClinGen gnomAD
CA371328106 rs1343740546	291	S>L		No	ClinGen TOPMed gnomAD
rs369553877 CA178364432	295	V>I		No	ClinGen ESP TOPMed gnomAD
rs775872876 CA4761975	296	E>D		No	ClinGen ExAC gnomAD
CA371328072 rs1297382015	297	E>K		No	ClinGen gnomAD
CA4761956 rs111708484	299	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4761955 rs759761612	300	I>V		No	ClinGen ExAC gnomAD
TCGA novel	302	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456120217 CA371328017	303	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	304	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368454037 CA371327991	306	Q>R		No	ClinGen TOPMed
CA4761953 rs145686333	308	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4761954 rs182264222	308	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	309	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA178348414 rs1006478162	312	E>G		No	ClinGen TOPMed gnomAD
rs1482958594 CA371326595	313	T>A		No	ClinGen gnomAD
CA371326587 rs1176988130	314	N>S		No	ClinGen TOPMed
CA371326559 rs1179229336	318	D>G		No	ClinGen gnomAD
rs765485026 CA4761914	318	D>N		No	ClinGen ExAC gnomAD
rs765485026 CA4761915	318	D>Y		No	ClinGen ExAC gnomAD
CA4761913 rs762085250	319	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA4761912 rs148968174	320	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4761911 rs768753093	323	K>N		No	ClinGen ExAC gnomAD
rs1292387106 CA371326520	324	A>T		No	ClinGen gnomAD
rs559324203 CA4761910	324	A>V		No	ClinGen ExAC gnomAD
TCGA novel	325	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769599231 CA4761882	326	V>A		No	ClinGen ExAC gnomAD
rs1181208678 CA371319643	328	K>I		No	ClinGen TOPMed gnomAD
rs145790464 CA4761881	331	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs776295942 CA4761880	331	P>L		No	ClinGen ExAC TOPMed gnomAD
rs145790464 CA371319578	331	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs145790464 CA178322253	331	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4761879 rs768203767	332	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	336	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746450205 CA4761878 COSM1457764	337	F>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	338	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779702306 CA4761877	339	K>R		No	ClinGen ExAC
CA371319418 rs1312924223	341	I>V		No	ClinGen gnomAD
TCGA novel	343	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371319269 rs1322872821	349	E>K		No	ClinGen gnomAD
CA371319244 rs1333564353	350	K>E		No	ClinGen gnomAD
CA4761873 rs760475788	350	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4761872 rs754168774	351	L>F		No	ClinGen ExAC gnomAD
CA4761870 rs151110168	352	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs540413249 CA4761868	352	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4761869 rs151110168	352	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA371319171 rs1183566739	353	K>E		No	ClinGen TOPMed gnomAD
CA371319141 rs6995412	354	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4761867 VAR_053781 rs6995412	354	R>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1408287251 CA371319131	354	R>S		No	ClinGen TOPMed
CA178322171 rs748798273	354	R>W		No	ClinGen Ensembl
rs1587489793 CA371317388	355	G>V		No	ClinGen Ensembl
CA4761850 rs548801422	356	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs756519559 CA4761849	356	K>R		No	ClinGen ExAC TOPMed gnomAD
rs752884992 CA4761848	357	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4761846 rs767756058	361	V>A		No	ClinGen ExAC gnomAD
CA371317266 rs755000935	363	A>S		No	ClinGen ExAC TOPMed gnomAD
rs755000935 CA4761845	363	A>T		No	ClinGen ExAC TOPMed gnomAD
rs139441811 CA4761844	369	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761647989 CA4761842	369	R>H		No	ClinGen ExAC TOPMed gnomAD
rs139441811 CA4761843	369	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA581983231 rs1178962355	370	K>*		No	ClinGen TOPMed
rs776684832 CA4761841	371	Y>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760581343 CA4761839	372	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771867550 COSM1100944 CA4761837	373	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC
rs775237436 CA4761838	373	Q>R		No	ClinGen ExAC gnomAD
CA371316976 rs1426858315	376	R>*		No	ClinGen gnomAD
rs773731675 CA4761836	376	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773731675 CA4761835	376	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA178316885 rs1010774228 COSM1457763	377	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA371316908 rs1203360840	380	G>R		No	ClinGen TOPMed gnomAD
CA371316865 rs111548396	382	A>P		No	ClinGen gnomAD
CA178316881 rs111548396	382	A>T		No	ClinGen gnomAD
CA4761833 rs749737562	382	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1238761523 CA371325914	386	D>G		No	ClinGen TOPMed
CA4761815 rs762556445	392	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1249985871 CA371325811	392	R>W		No	ClinGen gnomAD
rs557967736 CA178358556	394	S>N		No	ClinGen 1000Genomes
CA371325745 rs1317845440	395	N>K		No	ClinGen gnomAD
CA4761813 rs773541480	396	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4761812 rs770298060	397	V>M		No	ClinGen ExAC gnomAD
rs748442160 CA4761811	399	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4761810 rs539672078	399	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371325678 rs1398291954	400	G>A		No	ClinGen TOPMed gnomAD
rs1398291954 CA371325680	400	G>E		No	ClinGen TOPMed gnomAD
CA4761809 rs769063033	402	I>L		No	ClinGen ExAC gnomAD
CA4761808 rs368575612	403	E>K		No	ClinGen ExAC TOPMed gnomAD
CA371325614 rs1165452346	404	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4761807 rs780357987	404	T>P		No	ClinGen ExAC TOPMed gnomAD
CA178358493 rs780357987	404	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1442828484 CA371325605	405	Y>C		No	ClinGen gnomAD
CA371325594 rs758365723	406	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs758365723 CA4761806	406	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs750531818 CA4761805	406	Q>R		No	ClinGen ExAC gnomAD
CA4761804 rs777790350	407	E>D		No	ClinGen ExAC gnomAD
TCGA novel	408	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369189748 CA371325526	410	S>R		No	ClinGen TOPMed
CA371325488 rs1277023389	412	P>L		No	ClinGen TOPMed gnomAD
rs1357551091 CA371325498	412	P>S		No	ClinGen gnomAD
rs752742273 CA4761802	413	D>V		No	ClinGen ExAC gnomAD
CA4761801 rs549970977	416	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA371325342 rs1305520761	420	K>T		No	ClinGen TOPMed
rs751131305 CA4761799 RCV000597816	425	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs751131305 CA371325238	425	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4761798 rs571146931	425	R>H		No	ClinGen ExAC TOPMed gnomAD
rs147012895 CA4761797	426	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772711048 CA4761796	426	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1050081952 CA178358434	427	S>L		No	ClinGen TOPMed
CA4761795 rs764791495	428	D>V		No	ClinGen ExAC gnomAD
CA371325160 rs1489541919	429	R>K		No	ClinGen TOPMed
CA371325124 rs1587292512	430	Q>H		No	ClinGen Ensembl
rs777168135 CA371325130	430	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA4761793 rs777168135	430	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	433	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201951517 CA4761792	433	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs148640329 CA4761767	437	R>G		No	ClinGen ESP ExAC gnomAD
rs576597404 CA4761763	441	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576597404 CA371323297	441	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4761761 rs781217888	446	L>*		No	ClinGen ExAC gnomAD
rs749400974 CA4761762	446	L>V		No	ClinGen ExAC gnomAD
CA4761758 rs779882721	451	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	452	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4761757 rs758171923	452	N>H		No	ClinGen ExAC gnomAD
rs144001445 CA178354669	452	N>S		No	ClinGen ESP
CA4761756 rs750042785	453	D>G		No	ClinGen ExAC gnomAD
TCGA novel	453	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4761755 rs764895496	454	T>A		No	ClinGen ExAC gnomAD
CA371322948 rs1188758883	454	T>I		No	ClinGen gnomAD
rs1474713752 CA371322894	457	K>R		No	ClinGen gnomAD
rs756703473 CA4761754	458	N>D		No	ClinGen ExAC gnomAD
rs1177242418 CA371322830	459	D>E		No	ClinGen gnomAD
rs1187371040 CA371322836	459	D>G		No	ClinGen gnomAD
TCGA novel	459	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200072789 CA4761752	462	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200072789 CA4761751	462	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA371322752 rs1201419884	463	G>V		No	ClinGen gnomAD
CA4761750 rs753194439	465	L>P		No	ClinGen ExAC gnomAD
TCGA novel	467	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4761748 rs149515549	467	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000888116 rs61731238 CA4761747	468	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4761744 rs538536484	471	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4761746 rs372194017	471	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs538536484 CA4761745	471	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371322636 rs1489756615	472	N>I		No	ClinGen TOPMed
rs1334924913 CA371322615	473	A>G		No	ClinGen gnomAD
CA4761743 rs769819321	475	K>T		No	ClinGen ExAC
rs1355407884 CA371322561	476	V>A		No	ClinGen gnomAD
CA371322566 rs1452225977	476	V>F		No	ClinGen TOPMed gnomAD
rs1452225977 CA371322571	476	V>I		No	ClinGen TOPMed gnomAD
CA4761741 rs779893472	478	E>A		No	ClinGen ExAC TOPMed gnomAD
CA4761740 rs571486771	478	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA371322496 rs779893472	478	E>V		No	ClinGen ExAC TOPMed gnomAD
CA371322463 rs1390425640	479	E>D		No	ClinGen TOPMed
TCGA novel	480	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA178348848 rs745877416	485	P>H		No	ClinGen ExAC TOPMed gnomAD
rs745877416 CA4761717	485	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4761713 rs748940434	493	H>L		No	ClinGen ExAC gnomAD
TCGA novel	493	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777323994 CA4761712	494	Y>C		No	ClinGen ExAC gnomAD
CA371321261 rs1309363471	496	F>L		No	ClinGen TOPMed gnomAD
CA371321259 rs1309363471	496	F>V		No	ClinGen TOPMed gnomAD
rs955355129 CA178348732	498	L>R		No	ClinGen gnomAD
rs1372971152 CA371321187	500	A>T		No	ClinGen gnomAD
rs781673885 CA4761709	501	Q>E		No	ClinGen ExAC gnomAD
CA371321141 rs1428961785	502	N>Y		No	ClinGen TOPMed
rs755536762 CA4761708	503	K>Q		No	ClinGen ExAC gnomAD
rs752169931 CA4761707	504	I>S		No	ClinGen ExAC TOPMed gnomAD
rs752169931 CA371321096	504	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4761706 rs374278137	505	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs374278137 CA178348699	505	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA371321088 rs1456947038	505	A>T		No	ClinGen gnomAD
rs369603667 CA4761704	506	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	507	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371320998 rs1481320388	509	P>L		No	ClinGen gnomAD
rs1355776825 CA371320984	510	Y>C		No	ClinGen TOPMed
CA178346486 rs865991153	517	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
COSM1457761 CA178346466 rs1055400004	518	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs757411104 CA4761685	520	P>A		No	ClinGen ExAC gnomAD
CA4761686 rs757411104	520	P>S		No	ClinGen ExAC gnomAD
CA4761684 rs754141735	521	G>C		No	ClinGen ExAC gnomAD
CA178346429 rs1001095894	522	T>I		No	ClinGen Ensembl
rs769168879 CA178346409	524	D>G		No	ClinGen TOPMed gnomAD
rs369044816 CA4761682	524	D>H		No	ClinGen ESP ExAC gnomAD
CA4761683 rs369044816	524	D>N		No	ClinGen ESP ExAC gnomAD
rs1408505701 CA371320452	525	G>R		No	ClinGen TOPMed
rs774225355 CA4761681	526	R>K		No	ClinGen ExAC TOPMed gnomAD
CA4761680 rs766318594	528	Y>C		No	ClinGen ExAC gnomAD
rs762740715 COSM3669933 CA4761679	529	F>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA371320363 rs1335814935	530	H>N		No	ClinGen TOPMed
rs747733029 CA4761676	532	G>E		No	ClinGen ExAC gnomAD
CA371320316 rs1448888805	533	D>N		No	ClinGen gnomAD
rs776459864 CA4761675	534	A>D		No	ClinGen ExAC TOPMed gnomAD
rs776459864 CA371320282	534	A>V		No	ClinGen ExAC TOPMed gnomAD
CA178346333 rs754531033	535	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746538209 CA4761673	535	M>L		No	ClinGen ExAC TOPMed gnomAD
CA4761672 rs780647063	535	M>T		No	ClinGen ExAC TOPMed gnomAD
CA4761674 rs746538209	535	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4761671 rs758828925	536	Q>*		No	ClinGen ExAC gnomAD
rs1184245169 CA371320232	537	R>G		No	ClinGen TOPMed
rs551501542 CA178346277	538	V>A		No	ClinGen gnomAD
rs532922932 CA4761669	538	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4761668 rs757683861	539	G>R		No	ClinGen ExAC gnomAD
CA4761667 rs754020435	539	G>V		No	ClinGen ExAC gnomAD
CA4761666 rs777993903	540	N>Y		No	ClinGen ExAC gnomAD
rs749630928 CA178346250	542	E>G		No	ClinGen Ensembl
rs752973004 CA4761643	543	A>T		No	ClinGen ExAC gnomAD
rs781109524 CA4761642	543	A>V		No	ClinGen ExAC gnomAD
CA4761640 rs750283905	544	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs765238972 CA4761637	547	Y>C		No	ClinGen ExAC gnomAD
rs201964441 CA4761638	547	Y>H		No	ClinGen 1000Genomes
CA371319266 COSM3942708 rs1480992034	548	E>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	550	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145545534 CA4761636	551	H>Q		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA4761634 rs764041467	555	H>N		No	ClinGen ExAC gnomAD
CA4761633 rs760384831	555	H>R		No	ClinGen ExAC gnomAD
rs771447488 CA4761631	557	A>T		No	ClinGen ExAC gnomAD
rs1227518823 CA371319015	559	V>L		No	ClinGen gnomAD
rs774664596 CA4761629	562	R>C		No	ClinGen ExAC
rs771474720 CA4761628	562	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1319052748 CA371318918	564	L>V		No	ClinGen gnomAD
CA4761624 rs781508063	565	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs770191942 CA4761625	565	Y>C		No	ClinGen ExAC gnomAD
CA371318879 rs1161376086	566	N>D		No	ClinGen TOPMed
rs754960427 CA4761622	566	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	569	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1171267797 CA371318810	571	K>Q		No	ClinGen TOPMed gnomAD
CA371318795 rs1477995459	572	A>T		No	ClinGen gnomAD
rs1453773679 CA371318769	573	Q>L		No	ClinGen TOPMed
CA178342445 rs1017305195	574	P>L		No	ClinGen TOPMed gnomAD
rs141896681 CA4761619	577	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4761620 rs141896681	577	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371318667 rs1586880825	578	P>R		No	ClinGen Ensembl
rs368409800 CA4761616	579	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA178342417 rs532581518	580	E>K		No	ClinGen 1000Genomes gnomAD
CA4761615 rs138212166	581	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1432950722 CA371318587	582	G>A		No	ClinGen TOPMed gnomAD
CA4761613 rs767213465	582	G>C		No	ClinGen ExAC gnomAD
rs1586880549 CA371318546	584	T>I		No	ClinGen Ensembl
CA371318482 rs1461526117	587	V>A		No	ClinGen TOPMed
rs758904697 CA4761612	588	K>R		No	ClinGen ExAC gnomAD
CA4761601 rs758594010	590	L>V		No	ClinGen ExAC TOPMed gnomAD
rs749202132 CA4761600	594	W>C		No	ClinGen ExAC gnomAD
CA371315268 rs1306079293	598	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs375445620 CA4761597	598	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs752542964 CA4761596	601	G>D		No	ClinGen ExAC TOPMed gnomAD
rs535043002 CA4761594	602	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1331388954 CA371315071	605	M>L		No	ClinGen gnomAD
CA371315007 rs1206762846	607	K>E		No	ClinGen gnomAD
CA4761593 rs751217268	609	K>E		No	ClinGen ExAC TOPMed gnomAD
CA371314940 rs1370548472	610	G>V		No	ClinGen gnomAD
rs1167412623 CA371314930	611	L>V		No	ClinGen gnomAD
CA4761592 rs765843301	612	F>S		No	ClinGen ExAC gnomAD
rs1415483959 CA371314903	613	L>M		No	ClinGen gnomAD
rs762481351 CA4761591	614	P>L		No	ClinGen ExAC TOPMed gnomAD
CA178326458 rs1034444526 COSM3663823	616	D>G	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs200474335 CA4761590	621	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs527807260 CA4761589	623	G>A		No	ClinGen ExAC gnomAD
CA371314710 rs1259422856	623	G>R		No	ClinGen TOPMed
rs924813573 CA178326438	624	D>E		No	ClinGen TOPMed
rs1171079032 CA371314651	625	W>C		No	ClinGen TOPMed
rs372820604 CA4761587	626	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs372820604 CA4761588	626	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4761586 rs199833011	629	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775890030 CA4761584	631	W>*		No	ClinGen ExAC TOPMed gnomAD
CA371314507 rs1374439250	632	Q>*		No	ClinGen TOPMed gnomAD
CA178326397 rs969385896	633	Q>H		No	ClinGen TOPMed
CA178321332 rs201048853	634	G>E		No	ClinGen Ensembl
CA371310925 rs1407300523	635	R>K		No	ClinGen gnomAD
rs547359737 CA4761570	637	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1308825587 CA371310888	638	E>K		No	ClinGen TOPMed
rs1390603967 CA371310864	639	N>I		No	ClinGen TOPMed gnomAD
rs764481825 CA371310859	640	A>P		No	ClinGen ExAC gnomAD
CA4761568 rs764481825	640	A>S		No	ClinGen ExAC gnomAD
CA178321317 rs1011676489	644	A>T		No	ClinGen TOPMed
rs775802086 CA4761566	648	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs774561119 CA4761564	649	T>I		No	ClinGen ExAC TOPMed gnomAD
rs774561119 CA371310740	649	T>N		No	ClinGen ExAC TOPMed gnomAD
CA4761563 rs774561119	649	T>S		No	ClinGen ExAC TOPMed gnomAD
CA371310719 rs1475239309	651	L>P		No	ClinGen gnomAD
rs140478604 CA4761561	652	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4761560 rs781021623	656	E>K		No	ClinGen ExAC gnomAD
rs151278995 RCV000914098 CA4761559	658	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA178321232 rs764669838	659	G>A		No	ClinGen TOPMed
rs764669838 CA178321244	659	G>E		No	ClinGen TOPMed
rs746793332 CA4761558	659	G>R		No	ClinGen ExAC gnomAD
CA4761557 rs779611275	661	R>K		No	ClinGen ExAC gnomAD
CA371310552 rs1429416178	663	G>R		No	ClinGen TOPMed
rs143327706 CA4761545	665	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs774751383 CA4761546	665	I>N		No	ClinGen ExAC gnomAD
CA371310337 rs1225635348	669	I>V		No	ClinGen gnomAD
CA178320971 rs756073199	670	M>L		No	ClinGen ExAC gnomAD
CA4761543 rs756073199	670	M>V		No	ClinGen ExAC gnomAD
rs1235135268 CA371310250	672	P>A		No	ClinGen TOPMed
rs1440799600 CA371310228	672	P>L		No	ClinGen TOPMed
CA371310199 rs1455190416	673	G>A		No	ClinGen TOPMed
CA371310214 rs1397511085	673	G>R		No	ClinGen TOPMed gnomAD
rs149186983 CA4761539 CA4761541	675	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371310158 rs1395246872	675	H>Y		No	ClinGen TOPMed
rs778454709 CA4761536	676	V>A		No	ClinGen ExAC gnomAD
rs745483367 CA4761537	676	V>M		No	ClinGen ExAC TOPMed gnomAD
rs756734362 CA178320913	677	W>G		No	ClinGen ExAC TOPMed gnomAD
CA371310102 rs756734362 CA4761535	677	W>R		No	ClinGen ExAC TOPMed gnomAD
CA4761534 rs748753321	678	P>L		No	ClinGen ExAC gnomAD
rs1448982483 CA371309985	680	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	681	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1002230330 CA178320903	682	P>S		No	ClinGen TOPMed
rs907420761 CA178320899	683	T>I		No	ClinGen TOPMed
CA371309884 rs1338943276	684	N>D		No	ClinGen TOPMed
rs1196824814 CA371309828	685	C>*		No	ClinGen gnomAD
CA4761531 rs537240662	685	C>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1484322349 CA371309808	686	R>K		No	ClinGen TOPMed gnomAD
CA4761528 rs755422939	688	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4761524 rs763019067	689	M>I		No	ClinGen ExAC gnomAD
CA4761525 rs374883847	689	M>K		No	ClinGen ESP ExAC gnomAD
CA371309637 rs1218200754	690	H>L		No	ClinGen gnomAD
CA4761523 rs372915483	691	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	692	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA178320836 rs969718735	692	G>S		No	ClinGen Ensembl
CA4761521 rs760582148	693	L>F		No	ClinGen ExAC gnomAD
rs897145443 CA178320821	694	V>L		No	ClinGen TOPMed gnomAD
CA371309542 rs897145443	694	V>M		No	ClinGen TOPMed gnomAD
rs1023309061 CA178320817	695	I>S		No	ClinGen Ensembl
rs1038485727 CA178320803	696	P>L		No	ClinGen TOPMed
rs775444911 CA371309474	696	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775444911 CA4761520	696	P>T		No	ClinGen ExAC TOPMed gnomAD
CA371309448 rs1429127055	697	K>R		No	ClinGen gnomAD
CA371309435 rs1198869845	698	E>K		No	ClinGen TOPMed
rs557817791 CA4761519	702	I>T		No	ClinGen ExAC TOPMed gnomAD
rs773987662 CA4761517	703	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770489156 CA4761516	703	R>P		No	ClinGen ExAC gnomAD
rs770489156 CA371309254	703	R>Q		No	ClinGen ExAC gnomAD
CA371309193 rs1182948381	704	C>*		No	ClinGen gnomAD
CA4761515 rs749030670	705	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4761513 rs755727749	707	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4761511 rs369717162	708	T>N		No	ClinGen ESP ExAC gnomAD
CA371402203 rs769377583	709	K>N		No	ClinGen ExAC gnomAD
rs747672605 CA4761494	710	T>I		No	ClinGen ExAC gnomAD
CA178496048 rs867537692	712	E>G		No	ClinGen Ensembl
CA371402178 rs1404126052	713	E>*		No	ClinGen TOPMed
CA371402162 rs1187960244	715	K>R		No	ClinGen gnomAD
rs1227618857 CA371402156	716	V>M		No	ClinGen gnomAD
rs769277402 CA4761492	719	F>S		No	ClinGen ExAC gnomAD
rs1563609732 CA371402121	721	D>Y		No	ClinGen Ensembl
rs747609767 CA4761490	722	S>F		No	ClinGen ExAC TOPMed gnomAD
CA371402102 COSM3942707 rs1437166819	724	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA371402084 rs1338898133	726	E>*		No	ClinGen TOPMed
rs758835671 CA4761488 COSM1100939	726	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs765610535 CA4761486	727	V>*		No	ClinGen ExAC
CA371402075 rs1194122716	727	V>A		No	ClinGen TOPMed gnomAD
CA4761487 rs147092046	727	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1563609339 CA371402068	728	W>C		No	ClinGen Ensembl
CA371402059 rs1586106062	729	Q>H		No	ClinGen Ensembl
TCGA novel	729	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4761485 rs147729399	730	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs544944229 CA178495997	730	D>N		No	ClinGen 1000Genomes gnomAD
CA4761484 rs147729399	730	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1415441083 CA371402041	732	S>L		No	ClinGen TOPMed gnomAD
CA4761482 rs371485848	735	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4761481 rs759451621	736	L>M		No	ClinGen ExAC TOPMed gnomAD
rs751559728 CA4761480	737	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1048454252 CA178495973	738	F>L		No	ClinGen TOPMed gnomAD
rs1245883167 CA371402010	738	F>S		No	ClinGen gnomAD
CA4761479 rs766051230	739	I>F		No	ClinGen ExAC TOPMed gnomAD
rs766051230 CA178495969	739	I>V		No	ClinGen ExAC TOPMed gnomAD
CA371402001 rs762826838	740	V>L		No	ClinGen ExAC TOPMed gnomAD
rs762826838 CA4761478 COSM1569592	740	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1198666848 CA371401992	741	D>G		No	ClinGen gnomAD
rs556043425 CA4761477	742	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA371401972 rs1392687811	744	H>Y		No	ClinGen TOPMed
rs568263471 CA4761475	745	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4761474 rs776266998	746	E>*		No	ClinGen ExAC gnomAD
rs1332688459 CA371401948	748	T>A		No	ClinGen TOPMed gnomAD
CA371401944 rs1414410038	748	T>I		No	ClinGen TOPMed gnomAD
CA371401947 rs1332688459	748	T>S		No	ClinGen TOPMed gnomAD
CA178495904 rs533398607	750	Q>P		No	ClinGen Ensembl
rs780640026 CA4761471	752	R>K		No	ClinGen ExAC gnomAD
CA4761470 rs569811757 COSM332499	753	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs141861375 CA4761469	753	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs192951706 CA4761468 CA4761467	754	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754112474 CA4761466	755	L>P		No	ClinGen ExAC gnomAD

1 associated diseases with Q12797

[MIM: 601552]: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB)

A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs). {ECO:0000269|PubMed:24768550}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs). {ECO:0000269|PubMed:24768550}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q12797

Type	Name	Position	InterPro Accession
domain	Aspartyl/asparaginy/proline hydroxylase	591 - 745	IPR007803
domain	Aspartyl beta-hydroxylase/Triadin domain	43 - 108	IPR007943
repeat	Tetratricopeptide repeat	341 - 374	IPR019734-1
repeat	Tetratricopeptide repeat	454 - 487	IPR019734-2

Functions

		Description
EC Number	1.14.11.16	With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
Subcellular Localization	[Isoform 1]: Endoplasmic reticulum membrane; Single-pass type II membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
calcium channel complex	An ion channel complex through which calcium ions pass.
cortical endoplasmic reticulum	A cortical network of highly dynamic tubules that are juxtaposed to the plasma membrane and undergo ring closure and tubule-branching movements.
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).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of endoplasmic reticulum membrane	The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
junctional sarcoplasmic reticulum membrane	The part of the sarcoplasmic reticulum membrane that contains calcium release channels, is devoted to calcium release and is juxtaposed to transverse tubule membrane. The junctional sarcoplasmic reticulum membrane consists of the junctional region of the terminal cisterna membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
sarcoplasmic reticulum lumen	The volume enclosed by the membranes of the sarcoplasmic reticulum.
sarcoplasmic reticulum membrane	The lipid bilayer surrounding the sarcoplasmic reticulum.

6 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
electron transfer activity	Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient.
peptidyl-aspartic acid 3-dioxygenase activity	Catalysis of the reaction: protein L-aspartate + 2-oxoglutarate + O2 = protein 3-hydroxy-L-aspartate + succinate + CO2.
structural constituent of muscle	The action of a molecule that contributes to the structural integrity of a muscle fiber.
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.
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.

27 GO annotations of biological process

Name	Definition
activation of cysteine-type endopeptidase activity	Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase.
activation of store-operated calcium channel activity	A process that initiates the activity of an inactive store-operated calcium channel.
calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell.
calcium ion transmembrane transport	A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cellular response to calcium ion	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 calcium ion stimulus.
detection of calcium ion	The series of events in which a calcium ion stimulus is received by a cell and converted into a molecular signal.
face morphogenesis	The process in which the anatomical structures of the face are generated and organized. The face is the ventral division of the head.
limb morphogenesis	The process in which the anatomical structures of a limb are generated and organized. A limb is a paired appendage of a tetrapod used for locomotion or grasping.
muscle contraction	A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
pattern specification process	Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate.
peptidyl-aspartic acid hydroxylation	The hydroxylation of peptidyl-aspartic acid to form peptidyl-hydroxyaspartic acid.
positive regulation of calcium ion transport into cytosol	Any process that increases the rate of the directed movement of calcium ions into the cytosol of a cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components.
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 intracellular protein transport	Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells.
positive regulation of proteolysis	Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.
positive regulation of ryanodine-sensitive calcium-release channel activity	Any process that increases the activity of a ryanodine-sensitive calcium-release channel. The ryanodine-sensitive calcium-release channel catalyzes the transmembrane transfer of a calcium ion by a channel that opens when a ryanodine class ligand has been bound by the channel complex or one of its constituent parts.
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	Any process that modulates the frequency, rate or extent of cardiac muscle contraction via the regulation of the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol. The sarcoplasmic reticulum is the endoplasmic reticulum of striated muscle, specialised for the sequestration of calcium ions that are released upon receipt of a signal relayed by the T tubules from the neuromuscular junction.
regulation of cell communication by electrical coupling	Any process that modulates the frequency, rate or extent of cell communication via electrical coupling. Cell communication via electrical coupling is the process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels.
regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	Any process that modulates the frequency, rate or extent of the activity of the inositol 1,4,5-trisphosphate-sensitive calcium-release channel.
regulation of protein depolymerization	Any process that modulates the frequency, rate or extent of protein depolymerization.
regulation of protein stability	Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation.
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	Any process that modulates the rate, frequency or extent of release of sequestered calcium ion into cytosol by the sarcoplasmic reticulum, the process in which the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol occurs via calcium release channels.
regulation of ryanodine-sensitive calcium-release channel activity	Any process that modulates the activity of a ryanodine-sensitive calcium-release channel. The ryanodine-sensitive calcium-release channel catalyzes the transmembrane transfer of a calcium ion by a channel that opens when a ryanodine class ligand has been bound by the channel complex or one of its constituent parts.
response to ATP	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 an ATP (adenosine 5'-triphosphate) stimulus.
roof of mouth development	The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAQRKNAKSS	GNSSSSGSGS	GSTSAGSSSP	GARRETKHGG	HKNGRKGGLS	GTSFFTWFMV
70	80	90	100	110	120
IALLGVWTSV	AVVWFDLVDY	EEVLGKLGIY	DADGDGDFDV	DDAKVLLGLK	ERSTSEPAVP
130	140	150	160	170	180
PEEAEPHTEP	EEQVPVEAEP	QNIEDEAKEQ	IQSLLHEMVH	AEHVEGEDLQ	QEDGPTGEPQ
190	200	210	220	230	240
QEDDEFLMAT	DVDDRFETLE	PEVSHEETEH	SYHVEETVSQ	DCNQDMEEMM	SEQENPDSSE
250	260	270	280	290	300
PVVEDERLHH	DTDDVTYQVY	EEQAVYEPLE	NEGIEITEVT	APPEDNPVED	SQVIVEEVSI
310	320	330	340	350	360
FPVEEQQEVP	PETNRKTDDP	EQKAKVKKKK	PKLLNKFDKT	IKAELDAAEK	LRKRGKIEEA
370	380	390	400	410	420
VNAFKELVRK	YPQSPRARYG	KAQCEDDLAE	KRRSNEVLRG	AIETYQEVAS	LPDVPADLLK
430	440	450	460	470	480
LSLKRRSDRQ	QFLGHMRGSL	LTLQRLVQLF	PNDTSLKNDL	GVGYLLIGDN	DNAKKVYEEV
490	500	510	520	530	540
LSVTPNDGFA	KVHYGFILKA	QNKIAESIPY	LKEGIESGDP	GTDDGRFYFH	LGDAMQRVGN
550	560	570	580	590	600
KEAYKWYELG	HKRGHFASVW	QRSLYNVNGL	KAQPWWTPKE	TGYTELVKSL	ERNWKLIRDE
610	620	630	640	650	660
GLAVMDKAKG	LFLPEDENLR	EKGDWSQFTL	WQQGRRNENA	CKGAPKTCTL	LEKFPETTGC
670	680	690	700	710	720
RRGQIKYSIM	HPGTHVWPHT	GPTNCRLRMH	LGLVIPKEGC	KIRCANETKT	WEEGKVLIFD
730	740	750
DSFEHEVWQD	ASSFRLIFIV	DVWHPELTPQ	QRRSLPAI