AiPD: Autoinhibited Protein Database

Q9C029

Gene name	TRIM7 (GNIP, RNF90)
Protein name	E3 ubiquitin-protein ligase TRIM7
Names	Glycogenin-interacting protein, RING finger protein 90, Tripartite motif-containing protein 7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:81786
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

79-148 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

79-148 (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

20 structures for Q9C029

Entry ID	Method	Resolution	Chain	Position	Source
6UMA	X-ray	160 A	A/B	338-511	PDB
6UMB	X-ray	180 A	A/B	338-511	PDB
7OVX	X-ray	170 A	A	342-511	PDB
7OW2	X-ray	217 A	A/B/C/D	342-511	PDB
7W0Q	X-ray	110 A	A	338-511	PDB
7W0S	X-ray	140 A	B/C/E	338-511	PDB
7W0T	X-ray	157 A	B/C/F	338-511	PDB
7X6Y	X-ray	139 A	A	338-511	PDB
7X6Z	X-ray	143 A	A	338-511	PDB
7X70	X-ray	125 A	A	338-511	PDB
7Y3A	X-ray	170 A	A/B/C	338-511	PDB
7Y3B	X-ray	176 A	A	338-511	PDB
7Y3C	X-ray	171 A	A	338-511	PDB
8A5L	X-ray	162 A	A	342-511	PDB
8A5M	X-ray	292 A	A/B	342-511	PDB
8A8X	X-ray	237 A	A/C	342-511	PDB
8R5B	X-ray	160 A	A/B	338-511	PDB
8R5C	X-ray	160 A	A	338-511	PDB
8R5D	X-ray	180 A	A/B	338-511	PDB
AF-Q9C029-F1	Predicted				AlphaFoldDB

531 variants for Q9C029

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs775824431 CA3610507	2	A>E		No	ClinGen ExAC gnomAD
CA362535615 rs1253817540	3	A>T		No	ClinGen TOPMed
rs1021523196 CA133289827	4	V>L		No	ClinGen TOPMed gnomAD
rs1021523196 CA362535604	4	V>M		No	ClinGen TOPMed gnomAD
rs1037427137 CA133289822	5	G>E		No	ClinGen Ensembl
rs770499609 CA3610506	5	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3610505 rs748728945	9	G>S		No	ClinGen ExAC gnomAD
CA133289809 rs748981864	10	P>L		No	ClinGen Ensembl
rs886586787 CA133289807	11	G>*		No	ClinGen TOPMed
CA3610504 rs777522462	13	G>R		No	ClinGen ExAC TOPMed gnomAD
rs777522462 CA133289803	13	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3610503 rs769328135	15	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3610502 VAR_017399 rs3857300	18	A>S		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA362535430 rs1209287307	18	A>V		No	ClinGen gnomAD
CA133289795 rs916802670	20	A>V		No	ClinGen TOPMed gnomAD
rs991483529 CA133289793	22	E>K		No	ClinGen TOPMed gnomAD
CA362535366 rs1312509327	23	L>P		No	ClinGen gnomAD
CA362535333 rs1303001056	26	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362535286 rs1217049680	28	T>K		No	ClinGen gnomAD
CA362535284 rs1217049680	28	T>R		No	ClinGen gnomAD
rs1276273807 CA362535267	29	C>*		No	ClinGen TOPMed
rs1320711789 CA362535246	31	I>T		No	ClinGen gnomAD
rs781148067 CA3610501	34	E>A		No	ClinGen ExAC TOPMed
CA362535203 rs1391519349	36	F>L		No	ClinGen gnomAD
CA362535200 rs1346500928	36	F>Y		No	ClinGen gnomAD
rs1295676164 CA362535195	37	R>C		No	ClinGen gnomAD
rs1319101546 CA362535179	39	P>R		No	ClinGen gnomAD
rs751564913 CA3610499	40	V>E		No	ClinGen ExAC TOPMed gnomAD
rs978137312 CA133289782	40	V>L		No	ClinGen gnomAD
CA133289770 rs966790095	42	V>I		No	ClinGen gnomAD
CA362535160 rs1394685689	43	E>*		No	ClinGen gnomAD
CA362535144 rs1478441260	45	G>C		No	ClinGen TOPMed
CA362535140 rs1246143199	46	H>N		No	ClinGen gnomAD
CA3610495 rs750462006	47	S>N		No	ClinGen ExAC gnomAD
CA362535126 rs765551552	47	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1207742429 CA362535114	49	C>Y		No	ClinGen gnomAD
CA362535106 rs1297836605	50	R>H		No	ClinGen TOPMed gnomAD
CA362535101 rs1344901136	51	A>S		No	ClinGen TOPMed
rs1230038366 CA362535097	52	C>S		No	ClinGen gnomAD
rs1362335300 CA362535084	53	I>T		No	ClinGen TOPMed gnomAD
CA362535078 rs1382086145	54	G>A		No	ClinGen gnomAD
CA362535081 rs1296085259 CA362535082	54	G>R		No	ClinGen TOPMed gnomAD
CA362535077 rs1382086145	54	G>V		No	ClinGen gnomAD
CA362535076 rs1273048413	55	R>C		No	ClinGen TOPMed
rs1369436544 CA362535073	55	R>H		No	ClinGen TOPMed
rs1219648137 CA362535052	58	E>Q		No	ClinGen TOPMed
CA3610491 rs753990124	59	R>C		No	ClinGen ExAC TOPMed gnomAD
CA133289747 rs954710762	59	R>L		No	ClinGen Ensembl
CA362535044 rs753990124	59	R>S		No	ClinGen ExAC TOPMed gnomAD
CA362535037 rs1375125212	60	P>L		No	ClinGen gnomAD
CA133289742 rs1051814411	60	P>S		No	ClinGen TOPMed gnomAD
CA3610490 rs764478278	61	G>D		No	ClinGen ExAC gnomAD
rs1582242725 CA362535020	63	G>V		No	ClinGen Ensembl
CA362535016 rs1245543846	64	S>C		No	ClinGen TOPMed
rs933396997 CA133289736	66	G>A		No	ClinGen TOPMed gnomAD
CA362534990 rs1438092437	69	T>P		No	ClinGen TOPMed
rs924729003 CA362534984	70	R>C		No	ClinGen TOPMed gnomAD
rs924729003 CA133289734	70	R>G		No	ClinGen TOPMed gnomAD
CA133289729 rs1028885084	70	R>L		No	ClinGen TOPMed
CA362534979 rs1488098637	71	A>P		No	ClinGen gnomAD
rs2770946 CA362534967	73	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772430239 CA3610487	73	P>L		No	ClinGen ExAC TOPMed gnomAD
CA133289705 rs772430239	73	P>R		No	ClinGen ExAC TOPMed gnomAD
VAR_017400 CA3610488 rs2770946	73	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3610486 rs762593205	75	P>L		No	ClinGen ExAC gnomAD
rs1309578778 CA362534945	77	P>S		No	ClinGen TOPMed
CA362534930 rs1266975905	79	P>R		No	ClinGen TOPMed gnomAD
rs1226189129 CA362534924	80	Q>P		No	ClinGen TOPMed
CA362534923 rs1226189129	80	Q>R		No	ClinGen TOPMed
rs1203855120 CA362534915	81	C>Y		No	ClinGen TOPMed gnomAD
rs1485208513 CA362534888	85	A>E		No	ClinGen gnomAD
CA362534883 rs1206804809	86	R>C		No	ClinGen gnomAD
CA362534875 rs1273205470	87	P>L		No	ClinGen gnomAD
CA133289696 rs1015960860	87	P>S		No	ClinGen TOPMed gnomAD
CA362534871 rs1341657339	88	S>N		No	ClinGen gnomAD
rs1315415269 CA362534863	89	Q>P		No	ClinGen gnomAD
CA362534855 rs1308874358	90	L>P		No	ClinGen gnomAD
CA362534850 rs1167479970	91	R>Q		No	ClinGen gnomAD
rs1368933967 CA362534852	91	R>W		No	ClinGen gnomAD
CA362534845 rs1162538057	92	P>H		No	ClinGen gnomAD
CA362534846 rs1370171474	92	P>S		No	ClinGen gnomAD
rs1252187637 CA362534839	93	N>T		No	ClinGen TOPMed gnomAD
CA362534830 rs1481899911	94	R>L		No	ClinGen gnomAD
CA362534832 rs1481899911	94	R>Q		No	ClinGen gnomAD
rs1183909870 CA362534834	94	R>W		No	ClinGen gnomAD
rs2770945 CA3610484 VAR_017401	95	Q>E		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA362534823 rs1267790342	95	Q>H		No	ClinGen gnomAD
rs886221933 CA133289667	96	L>P		No	ClinGen TOPMed gnomAD
rs747807411 CA3610483	96	L>V		No	ClinGen ExAC gnomAD
CA362534814 rs1412060069	97	A>V		No	ClinGen gnomAD
rs1328411119 CA362534813	98	A>T		No	ClinGen gnomAD
CA362534810 rs1387446278	98	A>V		No	ClinGen gnomAD
rs1291720178 CA362534807	99	V>M		No	ClinGen gnomAD
CA362534798 rs1161183374	100	A>D		No	ClinGen gnomAD
rs1412598850 CA362534801	100	A>T		No	ClinGen gnomAD
CA362534790 rs1471468116	101	T>M		No	ClinGen gnomAD
CA362534789 rs1199084826	102	L>I		No	ClinGen gnomAD
rs1452842801 CA362534779	103	L>P		No	ClinGen gnomAD
rs1470412474 CA362534774	104	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA362534778 rs1212508113	104	R>W		No	ClinGen gnomAD
rs746767463 CA3610480	105	R>C		No	ClinGen ExAC TOPMed gnomAD
CA362534771 rs1269288610	105	R>H		No	ClinGen gnomAD
CA362534769 TCGA novel rs1269288610	105	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746767463 CA362534773	105	R>S		No	ClinGen ExAC TOPMed gnomAD
CA362534759 rs1230680091	107	S>G		No	ClinGen gnomAD
rs374579277 CA133289653	107	S>I		No	ClinGen Ensembl
rs1348922783 CA362534755	107	S>R		No	ClinGen TOPMed gnomAD
CA3610479 rs780102513	109	P>T		No	ClinGen ExAC TOPMed gnomAD
rs551119310 CA3610478	110	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA133289649 rs551119310	110	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362534739 rs1299353225	111	A>T		No	ClinGen gnomAD
CA133289628 rs1002744943	113	P>A		No	ClinGen TOPMed
CA362534723 rs1389336761	113	P>R		No	ClinGen gnomAD
rs548719872 CA133289625	114	G>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs548719872 CA362534719	114	G>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs754085772 CA362534710	115	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	116	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466933811 CA362534699	117	G>E		No	ClinGen TOPMed
CA3610473 CA362534701 rs528918248	117	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362534700 rs528918248	117	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362534692 rs1478841147	118	S>C		No	ClinGen TOPMed gnomAD
CA362534693 rs1478841147	118	S>Y		No	ClinGen TOPMed gnomAD
CA362534686 rs1375568689	119	Q>R		No	ClinGen gnomAD
rs1192510086 CA362534665	122	A>V		No	ClinGen gnomAD
CA3610472 rs112348888	123	A>D		No	ClinGen ExAC gnomAD
rs1246856923 CA362534659	124	R>G		No	ClinGen TOPMed gnomAD
rs1340529911 CA362534651	125	A>E		No	ClinGen TOPMed
rs563116759 CA3610471	126	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3610470 rs543589179	127	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1201371353 CA362534629	129	R>H		No	ClinGen TOPMed gnomAD
rs1201371353 CA362534627	129	R>L		No	ClinGen TOPMed gnomAD
rs764861280 CA3610467	130	C>*		No	ClinGen ExAC gnomAD
TCGA novel	130	C>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3610469 rs759974603	130	C>Y		No	ClinGen ExAC gnomAD
CA362534596 rs1275834012	134	G>D		No	ClinGen gnomAD
rs1037921494 CA133289590	134	G>S		No	ClinGen TOPMed
rs889412812 CA133289585	135	E>A		No	ClinGen TOPMed gnomAD
CA362534589 rs889412812	135	E>G		No	ClinGen TOPMed gnomAD
rs1428487787 CA362534573	137	F>L		No	ClinGen gnomAD
rs1334651364 CA362534548	141	C>G		No	ClinGen gnomAD
TCGA novel	141	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA133289573 rs895323302	142	Q>R		No	ClinGen gnomAD
rs1399679729 CA362534535	143	D>N		No	ClinGen gnomAD
CA362534527 rs867397110	144	D>N		No	ClinGen TOPMed gnomAD
CA133289569 rs867397110	144	D>Y		No	ClinGen TOPMed gnomAD
CA133289565 rs1055355050	145	G>R		No	ClinGen gnomAD
rs768417440 CA3610464	147	A>S		No	ClinGen ExAC gnomAD
TCGA novel	147	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA133289543 rs866917610	148	I>T		No	ClinGen Ensembl
CA362534484 rs1242036496	149	C>W		No	ClinGen gnomAD
CA362534474 rs1205553004	150	V>E		No	ClinGen TOPMed
CA362534475 rs1205553004	150	V>G		No	ClinGen TOPMed
rs1215995448 CA362534479	150	V>L		No	ClinGen TOPMed
CA362534471 rs1582241809	151	V>M		No	ClinGen Ensembl
CA133289536 rs933529678	152	C>G		No	ClinGen TOPMed
CA362534452 rs1188725932	152	C>Y		No	ClinGen gnomAD
rs577806516 CA133289529	153	D>A		No	ClinGen 1000Genomes
CA133289523 rs1041799966	154	R>C		No	ClinGen TOPMed
rs781642744 CA3610461	154	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1041799966 CA133289527	154	R>S		No	ClinGen TOPMed
CA362534423 rs1295826336 COSM402754	155	A>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1359131802 CA362534418	155	A>V		No	ClinGen TOPMed
rs1210359239 CA362534412	156	R>C		No	ClinGen gnomAD
rs1276936413 CA362534404	157	E>K		No	ClinGen gnomAD
CA133289516 rs978103051	158	H>R		No	ClinGen TOPMed
CA362534379 rs1338712491	159	R>C		No	ClinGen gnomAD
CA362534371 rs1284686293	159	R>H		No	ClinGen gnomAD
CA362534366 rs1449982950	160	E>Q		No	ClinGen gnomAD
rs778777301 CA3610457	161	H>D		No	ClinGen ExAC gnomAD
rs1561652720 CA362534337	162	A>S		No	ClinGen Ensembl
CA362534323 rs1372007037	163	V>L		No	ClinGen TOPMed gnomAD
CA362534241 rs1449652382	167	D>A		No	ClinGen TOPMed
rs749338467 CA3610453	168	E>*		No	ClinGen ExAC TOPMed gnomAD
rs749338467 CA133289458	168	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3610451 rs756317118	169	A>T		No	ClinGen ExAC TOPMed gnomAD
CA362534204 rs1473982629	169	A>V		No	ClinGen TOPMed gnomAD
rs752906863 CA3610450	170	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1483545738 CA362534178	171	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1254209058 CA362534167	172	E>K		No	ClinGen gnomAD
rs1202583622 CA362534111	174	K>N		No	ClinGen TOPMed gnomAD
rs1304454096 CA362533334	175	E>G		No	ClinGen TOPMed gnomAD
CA3610432 rs373835929	178	E>Q		No	ClinGen ESP ExAC gnomAD
CA3610431 rs147644326	179	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3610430 rs147644326	179	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3610429 rs751948749	182	R>K		No	ClinGen ExAC gnomAD
rs1347251775 CA362533251	183	V>A		No	ClinGen gnomAD
CA3610428 rs780763656	183	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3610426 rs750889861	190	D>E		No	ClinGen ExAC TOPMed gnomAD
CA362533168 rs1418778641	190	D>G		No	ClinGen gnomAD
CA133289005 rs987868999	190	D>N		No	ClinGen Ensembl
CA3610425 rs763726176	191	C>Y		No	ClinGen ExAC gnomAD
rs1452629548 CA362533144	192	E>G		No	ClinGen gnomAD
CA133288991 rs767501827	195	R>G		No	ClinGen TOPMed gnomAD
CA133288989 rs767501827	195	R>W		No	ClinGen TOPMed gnomAD
CA362533096 rs1214803252	197	T>A		No	ClinGen gnomAD
rs1016938711 CA133288980	199	K>E		No	ClinGen gnomAD
rs774122689 CA3610420	199	K>T		No	ClinGen ExAC gnomAD
TCGA novel	200	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762881858 CA3610418	201	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1005522330 CA133288970	204	E>Q		No	ClinGen Ensembl
CA133288967 rs951365809	204	E>V		No	ClinGen Ensembl
rs773094746 CA3610417	205	L>P		No	ClinGen ExAC TOPMed
CA3610415 rs748227112	206	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3610365 rs544149971	208	Q>H		No	ClinGen 1000Genomes ExAC
CA3610364 rs754533784	209	M>T		No	ClinGen ExAC TOPMed
TCGA novel	210	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362532487 rs1451249026	210	A>V		No	ClinGen gnomAD
CA3610362 rs201559417	211	A>E		No	ClinGen ExAC gnomAD
rs201559417 CA362532476	211	A>V		No	ClinGen ExAC gnomAD
rs758060160 CA362532447	214	E>K		No	ClinGen ExAC gnomAD
rs758060160 CA3610360	214	E>Q		No	ClinGen ExAC gnomAD
CA362532424 rs749975908	215	K>N		No	ClinGen ExAC gnomAD
CA3610358 rs765108080	216	V>L		No	ClinGen ExAC gnomAD
rs1207258713	218	A>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs61743103 CA3610356	218	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3610355 rs764088743	220	F>L		No	ClinGen ExAC TOPMed
rs760908037 CA3610354	223	L>P		No	ClinGen ExAC gnomAD
CA3610352 rs61743096	225	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1165749393 CA362532323	225	A>V		No	ClinGen TOPMed
rs141070470 CA3610351	226	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3610349 rs150528571	227	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362532298 CA3610347 rs559432527	229	E>D		No	ClinGen 1000Genomes ExAC TOPMed
CA3610348 rs763206244	229	E>Q		No	ClinGen ExAC gnomAD
COSM1436768 CA3610346 rs770269863	230	Q>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs771530729 CA3610343	232	G>D		No	ClinGen ExAC gnomAD
rs141530115 CA362532256	233	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs141530115 CA3610341	233	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472073947 CA362532259	233	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362532233 rs1360557072	235	L>Q		No	ClinGen TOPMed
CA3610339 rs753573355	237	R>C		No	ClinGen ExAC gnomAD
CA3610337 rs756137955	237	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756137955 CA3610338	237	R>L		No	ClinGen ExAC TOPMed gnomAD
CA362532143 rs1262512547	240	E>K		No	ClinGen TOPMed
COSM3715054 COSM3715055 rs569307799 CA3610333	243	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1672195 COSM1672196 rs61739211 CA3610334	243	R>W	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs774647409 CA133287350	244	E>G		No	ClinGen Ensembl
CA362532056 rs1582231019	245	V>G		No	ClinGen Ensembl
CA133287344 rs1047928151	246	A>T		No	ClinGen TOPMed gnomAD
rs766481173 CA3610332	247	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	249	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763431044 CA3610331	249	Q>L		No	ClinGen ExAC gnomAD
CA362531995 rs1209787122	250	N>K		No	ClinGen gnomAD
TCGA novel	251	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769447717 CA3610329 CA3610328	252	N>K		No	ClinGen ExAC gnomAD
CA3610326 rs777070029	253	L>M		No	ClinGen ExAC TOPMed gnomAD
CA3610327 rs777070029	253	L>V		No	ClinGen ExAC TOPMed gnomAD
CA362531950 rs1561648293	254	A>V		No	ClinGen Ensembl
CA3610324 rs745457733 CA133287300	255	Q>H		No	ClinGen ExAC gnomAD
CA3610320 CA3610321 rs748916038	257	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3610319 rs777718999	257	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
VAR_052125 rs416574 CA3610318	258	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs416574 CA362531908	258	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362531902 rs1416309402	259	E>K		No	ClinGen gnomAD
CA133287272 rs958548562	261	T>I		No	ClinGen Ensembl
rs1000549430 CA133287266	264	S>T		No	ClinGen Ensembl
CA3610317 rs61737740	267	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3610316 rs781254469	268	S>N		No	ClinGen ExAC TOPMed gnomAD
CA362531801 rs781254469	268	S>T		No	ClinGen ExAC TOPMed gnomAD
rs867856489 CA133287254	269	Q>*		No	ClinGen gnomAD
rs376856007 CA3610313	272	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs763089536 CA362531742 CA3610312	272	E>D		No	ClinGen ExAC TOPMed gnomAD
CA362531699 rs890176791	276	K>N		No	ClinGen TOPMed
rs750602893 CA3610311	278	D>E		No	ClinGen ExAC gnomAD
CA362531671 rs1486813808	279	L>P		No	ClinGen TOPMed gnomAD
CA3610310 rs765612355	280	D>G		No	ClinGen ExAC TOPMed gnomAD
COSM285960 rs267600589 CA133286901	284	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA3610294 rs143052397	285	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs551698732 CA3610293	286	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3610292 rs757682266	287	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA362531498 rs1223935132	287	S>R		No	ClinGen gnomAD
CA3610291 rs116911833	288	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3610288 rs548655912	290	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA362531466 rs548655912	290	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA3610287 rs765832844	290	S>R		No	ClinGen ExAC gnomAD
CA362531463 rs548655912	290	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs749941645 CA3610268	291	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3610266 rs764771332	292	C>G		No	ClinGen ExAC gnomAD
CA3610265 rs761587423	293	S>G		No	ClinGen ExAC gnomAD
CA3610264 rs776297811	293	S>R		No	ClinGen ExAC gnomAD
CA362531358 rs1266080978	295	V>A		No	ClinGen TOPMed
rs760482731 CA3610262	296	P>S		No	ClinGen ExAC gnomAD
TCGA novel	297	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362531351 rs1178822447	297	G>S		No	ClinGen TOPMed
rs1378689566 CA362531343	298	P>S		No	ClinGen TOPMed
CA362531332 rs1453741582	299	K>N		No	ClinGen TOPMed
CA3610258 rs778971294	301	T>A		No	ClinGen ExAC gnomAD
CA362531321 rs1240009075	301	T>I		No	ClinGen TOPMed gnomAD
rs752050805 CA3610256	302	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	303	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145627318 CA3610254	304	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3610252 rs781611089	306	E>K		No	ClinGen ExAC gnomAD
rs755558773 CA3610251	307	M>V		No	ClinGen ExAC gnomAD
TCGA novel rs752070032 CA3610250	308	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA362531272 rs1287347345	309	N>S		No	ClinGen gnomAD
rs1294761335 CA362531274	309	N>Y		No	ClinGen gnomAD
rs761380942 CA3610248	311	V>I		No	ClinGen ExAC gnomAD
rs761380942 CA362531260	311	V>L		No	ClinGen ExAC gnomAD
rs763797079 CA3610246	313	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3610247 rs753468703	313	N>T		No	ClinGen ExAC TOPMed gnomAD
CA3610245 rs760444617	314	V>I		No	ClinGen ExAC gnomAD
rs1236876523 CA362531221	317	K>*		No	ClinGen TOPMed
rs1171009686 CA362531217	317	K>N		No	ClinGen TOPMed gnomAD
rs1430098363 CA362531212	318	T>N		No	ClinGen gnomAD
rs202093181 CA3610243	319	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA362531174 rs201350955	324	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3610242 rs201350955 COSM1066918 COSM1595307	324	M>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs774225201 CA3610241	326	K>Q		No	ClinGen ExAC gnomAD
rs937116271 CA133286708	327	K>E		No	ClinGen TOPMed
CA362531150 CA3610240 rs771048476	327	K>N		No	ClinGen ExAC gnomAD
rs754838547 CA3610207	330	E>G		No	ClinGen ExAC
CA362531133 rs1191249339	330	E>K		No	ClinGen TOPMed
rs374765751 CA133286507	331	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1344212999 CA362531114	331	D>N		No	ClinGen gnomAD
CA3610203 rs371275633	333	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3610202 rs371275633	333	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3610205 rs148921840	333	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1356390909 CA362531066	336	L>V		No	ClinGen gnomAD
CA3610200 rs777056572	341	K>E		No	ClinGen ExAC gnomAD
CA3610176 rs774991145	342	V>A		No	ClinGen ExAC gnomAD
CA133285718 rs546254939	343	E>D		No	ClinGen gnomAD
rs1326735906 CA362530512	344	L>P		No	ClinGen gnomAD
TCGA novel	345	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3610175 rs771333096	345	T>S		No	ClinGen ExAC gnomAD
rs749740849 CA3610174	346	L>V		No	ClinGen ExAC TOPMed gnomAD
CA362530430 rs1417484918	349	D>H		No	ClinGen gnomAD
CA362530434 rs1417484918	349	D>N		No	ClinGen gnomAD
rs970295659 CA133285711	350	T>K		No	ClinGen Ensembl
CA362530404 rs1361888137	350	T>P		No	ClinGen TOPMed
CA3610171 rs746710943	351	A>T		No	ClinGen ExAC gnomAD
rs1171272651 CA362530366	352	N>K		No	ClinGen gnomAD
rs1183180447 CA362530360	353	P>Q		No	ClinGen gnomAD
rs1298696444 CA362530345	354	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs758276553 CA3610169	354	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3610168 rs750167421	355	L>F		No	ClinGen ExAC TOPMed gnomAD
rs531072907 CA133285696	356	I>M		No	ClinGen Ensembl
CA3610167 rs371250731	356	I>V		No	ClinGen ESP ExAC gnomAD
CA133285694 rs138823350	357	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138823350 CA3610166	357	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1486671165 CA362530307	357	L>R		No	ClinGen gnomAD
rs1249393900 CA362530301	358	S>P		No	ClinGen gnomAD
rs1276419880 CA362530290	358	S>Y		No	ClinGen gnomAD
CA362530247 rs1271757829	360	D>E		No	ClinGen gnomAD
CA362530260 rs1339977184	360	D>H		No	ClinGen gnomAD
rs367846710 CA3610160	362	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs756967710 CA3610159	362	K>N		No	ClinGen ExAC TOPMed gnomAD
CA362530175 rs254460	363	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_052126 rs254460 CA3610158	363	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA362530163 rs1332921087	364	V>M		No	ClinGen gnomAD
CA362530143 rs556494114	365	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA362530135 rs774595436	365	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3610156 rs774595436	365	R>P		No	ClinGen ExAC TOPMed gnomAD
rs556494114 CA3610157	365	R>S		No	ClinGen 1000Genomes ExAC gnomAD
CA362530125 rs1170053041	366	L>F		No	ClinGen gnomAD
rs1423217925 CA362530113	367	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs768191915 CA3610152	369	R>L		No	ClinGen ExAC TOPMed gnomAD
CA362530065 rs768191915	369	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362530070 rs773663334	369	R>W		No	ClinGen ExAC gnomAD
CA362530054 rs1157742120	370	A>D		No	ClinGen TOPMed
rs1352670541 CA362530061	370	A>T		No	ClinGen gnomAD
CA362530044 rs1345113726	371	Q>E		No	ClinGen TOPMed
CA362530037 rs746514946	371	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA3610151 rs746514946	371	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA362530023 rs1322949722	372	D>Y		No	ClinGen TOPMed
rs1196563461 CA362529977	375	N>H		No	ClinGen gnomAD
rs1273443482 CA362529953	375	N>K		No	ClinGen gnomAD
CA3610148 rs779810853	375	N>T		No	ClinGen ExAC gnomAD
CA362529948 rs1234816540	376	H>N		No	ClinGen gnomAD
rs202182023 CA3610147	376	H>P		No	ClinGen ExAC TOPMed gnomAD
rs202182023 CA362529943	376	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1442267695 CA362529894	378	C>*		No	ClinGen gnomAD
CA3610145 rs778604025	379	R>C		No	ClinGen ExAC gnomAD
TCGA novel	379	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362529844 rs1301457875	380	F>C		No	ClinGen TOPMed
COSM362433 rs1440664975 CA362529866	380	F>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM1595310 CA3610144 rs757067425 COSM1066915	381	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA362529836 rs757067425	381	D>Y		No	ClinGen ExAC gnomAD
CA133285646 rs373720464	382	T>I		No	ClinGen ESP TOPMed
CA362529827 rs1399946878	382	T>P		No	ClinGen gnomAD
CA133285641 rs376608746	384	T>I		No	ClinGen Ensembl
rs376608746 CA133285643	384	T>N		No	ClinGen Ensembl
CA362529778 rs749285913	385	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3610142 rs185144112	385	R>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA3610143 rs749285913	385	R>S		No	ClinGen ExAC TOPMed gnomAD
rs752706205 CA3610140	388	A>E		No	ClinGen ExAC gnomAD
rs1470531483 CA362529737	388	A>P		No	ClinGen TOPMed gnomAD
CA362529735 rs1470531483	388	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	388	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457255135 CA362529708	389	S>F		No	ClinGen gnomAD
rs368735034 CA3610138	391	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3610135 rs766754774	393	S>F		No	ClinGen ExAC gnomAD
CA133285621 rs968044659	393	S>T		No	ClinGen TOPMed gnomAD
CA133285612 rs879262053	394	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA362529618 rs1409462631	394	S>T		No	ClinGen gnomAD
rs762319634 CA3610131	396	R>L		No	ClinGen ExAC TOPMed gnomAD
rs762319634 CA3610132	396	R>P		No	ClinGen ExAC TOPMed gnomAD
rs762319634 CA362529566	396	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs991138763 CA133285606 COSM88696	396	R>W	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1438993422 CA362529503	399	W>*		No	ClinGen TOPMed gnomAD
rs771570796 CA3610129	399	W>C		No	ClinGen ExAC gnomAD
rs1390044349 CA362529475	400	E>D		No	ClinGen TOPMed
rs554493109 CA3610128	400	E>K		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	401	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749092499 CA3610125	402	E>K		No	ClinGen ExAC gnomAD
rs749092499 CA3610126	402	E>Q		No	ClinGen ExAC gnomAD
CA362529431 rs1561644411	403	V>E		No	ClinGen Ensembl
rs1219293639 CA362529401	405	S>F		No	ClinGen TOPMed gnomAD
rs1439055928 CA362529380	406	K>N		No	ClinGen gnomAD
rs756135753 CA3610123	407	D>H		No	ClinGen ExAC TOPMed gnomAD
rs781165142 CA3610122	408	G>C		No	ClinGen ExAC gnomAD
CA362529349 rs1450468943	408	G>D		No	ClinGen gnomAD
CA3610121 rs781165142	408	G>R		No	ClinGen ExAC gnomAD
rs781165142 CA362529358	408	G>S		No	ClinGen ExAC gnomAD
CA362529339 rs1429578196	409	W>R		No	ClinGen Ensembl
rs1487358252 CA362529303	410	A>V		No	ClinGen gnomAD
CA3610120 rs755039269	411	F>L		No	ClinGen ExAC TOPMed gnomAD
CA3610118 rs751781492	412	G>D		No	ClinGen ExAC TOPMed gnomAD
rs751781492 CA362529249	412	G>V		No	ClinGen ExAC TOPMed gnomAD
CA362529234 rs1353650094	413	V>G		No	ClinGen gnomAD
CA3610116 rs758818114	413	V>M		No	ClinGen ExAC gnomAD
CA362529206 rs1221302005	415	R>H		No	ClinGen TOPMed gnomAD
rs1365863072 CA362529195	416	E>Q		No	ClinGen gnomAD
rs889682628 CA133285566	417	S>G		No	ClinGen TOPMed
rs1431841215 CA362529143	417	S>R		No	ClinGen gnomAD
rs1362661254 CA362529140	418	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3610113 rs762257274	419	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	419	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3610111 rs766983079	420	R>G		No	ClinGen ExAC TOPMed gnomAD
rs759053865 CA3610110 COSM24052	420	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3610109 rs774215224	422	G>S		No	ClinGen ExAC gnomAD
CA362529036 rs1186882613	423	L>P		No	ClinGen gnomAD
rs1186882613 CA362529033	423	L>R		No	ClinGen gnomAD
CA133285554 rs994584395	424	T>M		No	ClinGen TOPMed gnomAD
rs1561644254 CA362529030	424	T>P		No	ClinGen Ensembl
rs1215297814 CA362529010	425	P>S		No	ClinGen gnomAD
rs866034388 CA133285549	428	P>L		No	ClinGen Ensembl
rs769676294 CA3610105	429	E>K		No	ClinGen ExAC
rs1281685562 CA362528909	430	E>K		No	ClinGen gnomAD
CA3610103 rs781169912	434	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768682055 CA3610102	435	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA133285542 rs752111156	435	L>V		No	ClinGen TOPMed gnomAD
CA3610101 rs200165092	437	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs942925618 CA133285533	439	G>C		No	ClinGen TOPMed gnomAD
rs891393446 CA133285530	439	G>D		No	ClinGen TOPMed gnomAD
rs942925618 CA362528774	439	G>S		No	ClinGen TOPMed gnomAD
rs750602919 CA3610098	440	G>S		No	ClinGen ExAC gnomAD
CA362528715 rs1411666548	442	Y>*		No	ClinGen TOPMed
TCGA novel	443	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362528686 rs1421025977	444	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3610097 rs779272280	444	A>V		No	ClinGen ExAC TOPMed gnomAD
rs757616559 CA3610096	446	T>P		No	ClinGen ExAC TOPMed gnomAD
rs754340485 CA3610095	447	S>N		No	ClinGen ExAC gnomAD
rs1179574580 CA362528634	447	S>R		No	ClinGen gnomAD
rs916140401 CA362528628	448	P>A		No	ClinGen TOPMed
rs1482588705 CA362528619	448	P>L		No	ClinGen gnomAD
rs916140401 CA133285510	448	P>S		No	ClinGen TOPMed
rs916140401 CA362528626	448	P>T		No	ClinGen TOPMed
CA3610093 rs759027826	449	E>D		No	ClinGen ExAC gnomAD
CA133285506 rs990829359	449	E>G		No	ClinGen Ensembl
rs764659374 CA3610094	449	E>K		No	ClinGen ExAC gnomAD
CA362528614 rs764659374	449	E>Q		No	ClinGen ExAC gnomAD
CA3610090 rs762729364	450	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs61751566 CA3610091	450	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772954194 CA362528576	451	S>*		No	ClinGen ExAC TOPMed gnomAD
CA3610089 rs772954194	451	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA362528556 rs1378390014	452	P>H		No	ClinGen TOPMed gnomAD
CA362528553 rs1378390014	452	P>L		No	ClinGen TOPMed gnomAD
CA362528559 rs1394343219	452	P>S		No	ClinGen gnomAD
rs1298610190 CA362528548	453	L>V		No	ClinGen gnomAD
rs776487052 CA3610086	455	C>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	455	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362528487 rs1169686352	456	G>E		No	ClinGen gnomAD
rs532371393 CA133285489	456	G>R		No	ClinGen 1000Genomes TOPMed
CA362528489 rs532371393	456	G>W		No	ClinGen 1000Genomes TOPMed
rs770769065 CA362528436	459	S>*		No	ClinGen TOPMed gnomAD
rs770769065 CA133285487	459	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA362528433 rs770769065	459	S>W		No	ClinGen TOPMed gnomAD
CA362528419 rs1369813230	460	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3610085 rs768650609	461	V>M		No	ClinGen ExAC gnomAD
CA362528376 rs1459473401	463	V>A		No	ClinGen gnomAD
CA362528382 rs1179751153	463	V>L		No	ClinGen gnomAD
CA362528370 rs1198374758	464	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs990859898 CA133285479	465	L>V		No	ClinGen TOPMed
CA3610081 rs145317232	466	D>N		No	ClinGen ESP ExAC gnomAD
CA3610082 rs145317232	466	D>Y		No	ClinGen ESP ExAC gnomAD
CA133285469 rs960884944	467	L>R		No	ClinGen TOPMed
CA3610078 rs757628146	470	G>R		No	ClinGen ExAC gnomAD
rs754219099 CA3610077	471	A>D		No	ClinGen ExAC gnomAD
rs867194011 CA133285462	471	A>S		No	ClinGen Ensembl
rs1441297441 CA362528222	473	S>F		No	ClinGen gnomAD
rs1392464272 CA362528220	474	F>I		No	ClinGen gnomAD
CA362528211 rs1291367692	474	F>S		No	ClinGen gnomAD
rs1034957866 CA133285457	475	Y>*		No	ClinGen TOPMed
rs1456983906 CA362528199	475	Y>H		No	ClinGen gnomAD
rs1374971183 CA362528195	475	Y>S		No	ClinGen TOPMed
CA3610076 rs201027432	476	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs753216591 CA3610074	478	E>G		No	ClinGen ExAC gnomAD
rs1378981279 CA362528132	479	D>N		No	ClinGen TOPMed gnomAD
rs1453746718 CA362528116	479	D>V		No	ClinGen gnomAD
CA133285442 rs552988435	480	M>L		No	ClinGen Ensembl
rs766012791 CA3610073	480	M>T		No	ClinGen ExAC gnomAD
CA362528083 rs1269752401	481	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs762533864 CA3610072	481	R>H		No	ClinGen ExAC gnomAD
rs141420106 CA3610070	483	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA362528052 rs141420106	483	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA362528010 rs761311052	485	T>A		No	ClinGen ExAC gnomAD
rs182296467 CA3610068	485	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3610067 rs182296467	485	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761311052 CA3610069	485	T>P		No	ClinGen ExAC gnomAD
rs760627175 CA3610066	486	F>S		No	ClinGen ExAC gnomAD
CA362527974 rs1278951787	487	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	488	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362527959 rs1298909002	488	V>G		No	ClinGen gnomAD
rs367751286 CA3610064	488	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs889641065 CA133285419	489	N>I		No	ClinGen TOPMed gnomAD
rs889641065 CA362527946	489	N>S		No	ClinGen TOPMed gnomAD
CA3610063 rs745943027	491	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA362527845 rs1385191219	493	R>C		No	ClinGen TOPMed gnomAD
rs1299555468 CA362527842	493	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362527819 rs1359220955	494	V>E		No	ClinGen gnomAD
rs1379799959 CA362527735	496	P>L		No	ClinGen TOPMed gnomAD
CA362527729 rs1217959459	497	L>F		No	ClinGen gnomAD
CA3610058 rs778232593	498	F>L		No	ClinGen ExAC gnomAD
rs753637955 CA133285404	500	V>A		No	ClinGen Ensembl
rs1487308736 CA362527609	502	S>T		No	ClinGen gnomAD
rs142071484 CA3610056	503	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3610054 rs201909164	508	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs758052656 CA3610053	508	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA362527471 rs749963929	509	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	509	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764580305 CA3610051	510	W>R		No	ClinGen ExAC gnomAD
CA3610050 rs148602621	512	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q9C029

5 regional properties for Q9C029

Type	Name	Position	InterPro Accession
domain	PDZ domain	17 - 106	IPR001478-1
domain	PDZ domain	249 - 333	IPR001478-2
domain	PDZ domain	364 - 448	IPR001478-3
domain	PDZ domain	489 - 576	IPR001478-4
domain	PDZ domain	584 - 664	IPR001478-5

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Nucleus Cytoplasm Golgi apparatus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
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.

2 GO annotations of molecular function

Name	Definition
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
zinc ion binding	Binding to a zinc ion (Zn).

1 GO annotations of biological process

Name	Definition
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.

49 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5E9G4	TRIM10	Tripartite motif-containing protein 10	Bos taurus (Bovine)	PR
Q2T9Z0	TRIM17	E3 ubiquitin-protein ligase TRIM17	Bos taurus (Bovine)	PR
E1BJS7	TRIM71	E3 ubiquitin-protein ligase TRIM71	Bos taurus (Bovine)	PR
Q7YRV4	TRIM21	E3 ubiquitin-protein ligase TRIM21	Bos taurus (Bovine)	PR
Q1PRL4	TRIM71	E3 ubiquitin-protein ligase TRIM71	Gallus gallus (Chicken)	PR
Q7YR32	TRIM10	Tripartite motif-containing protein 10	Pan troglodytes (Chimpanzee)	PR
Q9BTV5	FSD1	Fibronectin type III and SPRY domain-containing protein 1	Homo sapiens (Human)	PR
Q9UJV3	MID2	Probable E3 ubiquitin-protein ligase MID2	Homo sapiens (Human)	PR
P29590	PML	Protein PML	Homo sapiens (Human)	PR
Q9NQ86	TRIM36	E3 ubiquitin-protein ligase TRIM36	Homo sapiens (Human)	PR
Q86UV6	TRIM74	Tripartite motif-containing protein 74	Homo sapiens (Human)	PR
Q2Q1W2	TRIM71	E3 ubiquitin-protein ligase TRIM71	Homo sapiens (Human)	PR
Q9BXM9	FSD1L	FSD1-like protein	Homo sapiens (Human)	PR
Q9H2S5	RNF39	RING finger protein 39	Homo sapiens (Human)	PR
Q86UV7	TRIM73	Tripartite motif-containing protein 73	Homo sapiens (Human)	PR
Q86XT4	TRIM50	E3 ubiquitin-protein ligase TRIM50	Homo sapiens (Human)	PR
Q6ZMU5	TRIM72	Tripartite motif-containing protein 72	Homo sapiens (Human)	PR
Q9UPQ4	TRIM35	E3 ubiquitin-protein ligase TRIM35	Homo sapiens (Human)	PR
Q9BZY9	TRIM31	E3 ubiquitin-protein ligase TRIM31	Homo sapiens (Human)	PR
O15553	MEFV	Pyrin	Homo sapiens (Human)	SS
A6NCK2	TRIM43B	Tripartite motif-containing protein 43B	Homo sapiens (Human)	PR
Q8N9V2	TRIML1	Probable E3 ubiquitin-protein ligase TRIML1	Homo sapiens (Human)	PR
P19474	TRIM21	E3 ubiquitin-protein ligase TRIM21	Homo sapiens (Human)	PR
Q14142	TRIM14	Tripartite motif-containing protein 14	Homo sapiens (Human)	PR
A6NK02	TRIM75	Tripartite motif-containing protein 75	Homo sapiens (Human)	PR
Q5EBN2	TRIM61	Putative tripartite motif-containing protein 61	Homo sapiens (Human)	PR
Q9WUH5	Trim10	Tripartite motif-containing protein 10	Mus musculus (Mouse)	PR
Q8BZT2	Sh3rf2	E3 ubiquitin-protein ligase SH3RF2	Mus musculus (Mouse)	PR
Q7TPM3	Trim17	E3 ubiquitin-protein ligase TRIM17	Mus musculus (Mouse)	PR
Q1XH17	Trim72	Tripartite motif-containing protein 72	Mus musculus (Mouse)	PR
Q60953	Pml	Protein PML	Mus musculus (Mouse)	PR
Q9JJ26	Mefv	Pyrin	Mus musculus (Mouse)	SS
Q99PQ1	Trim12a	Tripartite motif-containing protein 12A	Mus musculus (Mouse)	PR
Q61510	Trim25	E3 ubiquitin/ISG15 ligase TRIM25	Mus musculus (Mouse)	PR
Q810I2	Trim50	E3 ubiquitin-protein ligase TRIM50	Mus musculus (Mouse)	PR
Q1PSW8	Trim71	E3 ubiquitin-protein ligase TRIM71	Mus musculus (Mouse)	PR
Q3TL54	Trim43a	Tripartite motif-containing protein 43A	Mus musculus (Mouse)	PR
P86449	Trim43c	Tripartite motif-containing protein 43C	Mus musculus (Mouse)	PR
O77666	TRIM26	Tripartite motif-containing protein 26	Sus scrofa (Pig)	PR
O19085	TRIM10	Tripartite motif-containing protein 10	Sus scrofa (Pig)	PR
Q865W2	TRIM50	E3 ubiquitin-protein ligase TRIM50	Sus scrofa (Pig)	PR
Q920M2	Rnf39	RING finger protein 39	Rattus norvegicus (Rat)	PR
Q9JJ25	Mefv	Pyrin	Rattus norvegicus (Rat)	SS
A0JPQ4	Trim72	Tripartite motif-containing protein 72	Rattus norvegicus (Rat)	PR
Q810I1	Trim50	E3 ubiquitin-protein ligase TRIM50	Rattus norvegicus (Rat)	PR
D3ZVM4	Trim71	E3 ubiquitin-protein ligase TRIM71	Rattus norvegicus (Rat)	PR
F6QEU4	trim71	E3 ubiquitin-protein ligase TRIM71	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q640S6	trim72	Tripartite motif-containing protein 72	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
E7FAM5	trim71	E3 ubiquitin-protein ligase TRIM71	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MAAVGPRTGP	GTGAEALALA	AELQGEATCS	ICLELFREPV	SVECGHSFCR	ACIGRCWERP
70	80	90	100	110	120
GAGSVGAATR	APPFPLPCPQ	CREPARPSQL	RPNRQLAAVA	TLLRRFSLPA	AAPGEHGSQA
130	140	150	160	170	180
AAARAAAARC	GQHGEPFKLY	CQDDGRAICV	VCDRAREHRE	HAVLPLDEAV	QEAKELLESR
190	200	210	220	230	240
LRVLKKELED	CEVFRSTEKK	ESKELLKQMA	AEQEKVGAEF	QALRAFLVEQ	EGRLLGRLEE
250	260	270	280	290	300
LSREVAQKQN	ENLAQLGVEI	TQLSKLSSQI	QETAQKPDLD	FLQEFKSTLS	RCSNVPGPKP
310	320	330	340	350	360
TTVSSEMKNK	VWNVSLKTFV	LKGMLKKFKE	DLRGELEKEE	KVELTLDPDT	ANPRLILSLD
370	380	390	400	410	420
LKGVRLGERA	QDLPNHPCRF	DTNTRVLASC	GFSSGRHHWE	VEVGSKDGWA	FGVARESVRR
430	440	450	460	470	480
KGLTPFTPEE	GVWALQLNGG	QYWAVTSPER	SPLSCGHLSR	VRVALDLEVG	AVSFYAVEDM
490	500	510
RHLYTFRVNF	QERVFPLFSV	CSTGTYLRIW	P