AiPD: Autoinhibited Protein Database

Q8IZ63

Gene name	PRR22
Protein name	Proline-rich protein 22
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:163154
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-184 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-184 (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

1 structures for Q8IZ63

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IZ63-F1	Predicted				AlphaFoldDB

446 variants for Q8IZ63

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA403561040 rs1411328377	2	Q>*		No	ClinGen gnomAD
rs1373186296 CA403561009	3	H>P		No	ClinGen gnomAD
CA9116722 rs776374486	5	K>E		No	ClinGen ExAC TOPMed gnomAD
rs543083484 CA9116721	6	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1156801711 CA403560959	6	P>S		No	ClinGen gnomAD
rs1210921196 CA403560897	9	A>V		No	ClinGen TOPMed gnomAD
CA304690281 rs958700124	10	P>S		No	ClinGen TOPMed gnomAD
rs1035388661 CA304690279	12	A>D		No	ClinGen TOPMed gnomAD
CA304690277 rs1024064513	13	P>L		No	ClinGen Ensembl
rs774303863 CA9116719	14	Q>*		No	ClinGen ExAC gnomAD
rs1467859324 CA403560787	15	E>D		No	ClinGen TOPMed
CA403560751 rs1337997987	18	S>G		No	ClinGen TOPMed
rs1012220296 CA304690272	19	P>L		No	ClinGen TOPMed gnomAD
rs1012220296 CA304690274	19	P>R		No	ClinGen TOPMed gnomAD
rs1218291329 CA403560709	20	Q>P		No	ClinGen TOPMed
rs767486050 CA304690268	21	S>R		No	ClinGen gnomAD
CA304690265 rs1025536265	24	G>E		No	ClinGen TOPMed gnomAD
rs1204023939 CA403560597	26	E>G		No	ClinGen TOPMed
rs1599614223 CA403560579	27	V>G		No	ClinGen Ensembl
rs1315575881 CA403560586	27	V>M		No	ClinGen gnomAD
rs750237227 CA304690263	32	P>A		No	ClinGen Ensembl
rs1161143144 CA403560499	33	A>S		No	ClinGen gnomAD
rs958381752 CA304690260	35	T>A		No	ClinGen TOPMed
CA403560462 rs1417434202	36	C>G		No	ClinGen gnomAD
rs1032416508 CA304690255	37	A>S		No	ClinGen gnomAD
CA304690257 rs1032416508	37	A>T		No	ClinGen gnomAD
rs370365763 CA9116714	38	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1041195652 CA304690247	39	P>L		No	ClinGen gnomAD
CA403560403 rs1041195652	39	P>R		No	ClinGen gnomAD
rs902681461 CA403560407	39	P>S		No	ClinGen TOPMed gnomAD
rs902681461 CA304690250	39	P>T		No	ClinGen TOPMed gnomAD
CA403560397 rs1177574415	40	P>S		No	ClinGen TOPMed
CA403560401 rs1177574415	40	P>T		No	ClinGen TOPMed
rs755444906 CA9116712	41	P>L		No	ClinGen ExAC gnomAD
CA304690242 rs867448534	42	A>S		No	ClinGen TOPMed gnomAD
CA403560373 rs867448534	42	A>T		No	ClinGen TOPMed gnomAD
rs375731438 CA304690238	43	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347841768 CA403560361	43	M>T		No	ClinGen TOPMed gnomAD
rs375731438 CA9116711	43	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA304690198 rs898266410	44	G>A		No	ClinGen TOPMed
rs1227049689 CA403560270	45	S>F		No	ClinGen TOPMed gnomAD
rs775472181 CA9116700	47	N>D		No	ClinGen ExAC gnomAD
CA9116697 rs773373535	51	P>H		No	ClinGen ExAC TOPMed gnomAD
CA403560095 rs773373535	51	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749407289 CA9116698	51	P>S		No	ClinGen ExAC TOPMed gnomAD
CA403560104 rs749407289	51	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1438261452 CA403560075	52	P>S		No	ClinGen gnomAD
CA403560031 rs1223527661	53	D>E		No	ClinGen TOPMed
CA9116695 rs748312398	55	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1430637357 CA403559955	56	K>I		No	ClinGen gnomAD
rs1599613985 CA403559894	58	V>G		No	ClinGen Ensembl
CA9116694 rs781476295	58	V>M		No	ClinGen ExAC TOPMed gnomAD
rs755358109 CA9116693	61	A>V		No	ClinGen ExAC gnomAD
CA403559794 rs1426440827	62	P>L		No	ClinGen gnomAD
rs747519095 CA9116692	62	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780582443 CA9116691	63	P>T		No	ClinGen ExAC gnomAD
rs148933333 CA9116611	65	G>D		No	ClinGen ESP ExAC gnomAD
CA9116690 rs186017590	65	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403559388 rs1224273938	67	Q>R		No	ClinGen TOPMed
CA403559364 rs1207399926	68	M>V		No	ClinGen gnomAD
TCGA novel	69	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9116610 rs767745748	70	P>L		No	ClinGen ExAC gnomAD
CA403559271 rs1201572659	72	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9116607 rs527615939	74	F>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403559188 rs1367980090	76	D>A		No	ClinGen TOPMed
CA403559187 rs1367980090	76	D>G		No	ClinGen TOPMed
CA9116604 rs373739696	76	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9116602 rs747692638	78	R>C		No	ClinGen ExAC gnomAD
rs201451364 CA9116601	78	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1378778153 CA403559129	80	Y>C		No	ClinGen gnomAD
CA9116600 rs768437778	80	Y>H		No	ClinGen ExAC gnomAD
CA9116598 rs780063963	81	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746595473 CA9116599	81	R>W		No	ClinGen ExAC TOPMed gnomAD
CA403559103 rs1184660156	83	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs745870499 CA9116596	84	W>G		No	ClinGen ExAC gnomAD
rs778689712 CA9116595	85	T>A		No	ClinGen ExAC TOPMed gnomAD
rs778689712 CA403559079	85	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1599613366 CA403559071	86	T>P		No	ClinGen Ensembl
CA403559058 rs1379977682	87	P>S		No	ClinGen TOPMed
rs529258239 CA9116594	88	D>N		No	ClinGen 1000Genomes ExAC TOPMed
rs1486866720 CA403559032	89	L>P		No	ClinGen gnomAD
rs752784569 CA9116593 CA403558939	95	Y>*		No	ClinGen ExAC gnomAD
CA403558947 rs1246680626	95	Y>C		No	ClinGen gnomAD
rs941048110 CA403558906	97	L>Q		No	ClinGen TOPMed gnomAD
rs941048110 CA304690017	97	L>R		No	ClinGen TOPMed gnomAD
rs755256731 CA9116591	98	A>P		No	ClinGen ExAC gnomAD
rs1283095144 CA403558859	100	S>R		No	ClinGen gnomAD
rs766814720 CA9116589	102	G>R		No	ClinGen ExAC TOPMed gnomAD
rs750173586	104	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1434240145 CA403558775	105	A>V		No	ClinGen TOPMed gnomAD
CA403558754 rs762353850	107	V>F		No	ClinGen ExAC TOPMed gnomAD
CA9116582 rs564552880	107	V>G		No	ClinGen 1000Genomes ExAC
CA9116583 rs762353850	107	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1413256770 CA403558740	108	P>H		No	ClinGen TOPMed gnomAD
CA403558741 rs1413256770	108	P>L		No	ClinGen TOPMed gnomAD
CA403558718 rs1473787794	109	S>F		No	ClinGen gnomAD
rs369088362 CA9116579	110	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9116578 rs771946719	111	P>Q		No	ClinGen ExAC gnomAD
rs745667779 CA9116577	112	G>S		No	ClinGen ExAC gnomAD
CA9116576 rs778708724	113	S>G		No	ClinGen ExAC gnomAD
CA403558615 rs1363382512	114	Y>*		No	ClinGen gnomAD
CA403558631 rs1599613262	114	Y>S		No	ClinGen Ensembl
rs1228514646 CA403558599	115	L>F		No	ClinGen gnomAD
CA9116575 rs770856468	116	L>M		No	ClinGen ExAC gnomAD
rs3745640 VAR_042962 CA9116574	118	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA403558530 rs3745640	118	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9116573 rs781306072	120	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA403558469 rs1365764083	122	L>F		No	ClinGen gnomAD
CA403558462 rs1419620147	123	K>E		No	ClinGen TOPMed gnomAD
rs755027577 CA9116572	123	K>R		No	ClinGen ExAC gnomAD
rs751819459 CA9116571	124	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1433976057 CA403558438	124	A>P		No	ClinGen gnomAD
rs1433976057 CA403558439	124	A>T		No	ClinGen gnomAD
CA9116570 rs758598422	125	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9116569 rs758598422	125	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs750767092 CA9116568	126	G>R		No	ClinGen ExAC gnomAD
CA403558416 rs750767092	126	G>W		No	ClinGen ExAC gnomAD
rs866811017 CA304689987	127	L>M		No	ClinGen Ensembl
CA9116566 rs762478514	128	P>L		No	ClinGen ExAC TOPMed gnomAD
CA403558396 rs762478514	128	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1425578762 CA403557576	131	P>L		No	ClinGen gnomAD
rs1450646685 CA403557591	131	P>S		No	ClinGen gnomAD
CA304689983 rs754385834	132	H>D		No	ClinGen ExAC TOPMed gnomAD
CA304689980 rs1020401267	132	H>R		No	ClinGen TOPMed
CA9116565 rs754385834	132	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA9116564 rs763748972	134	Q>*		No	ClinGen ExAC gnomAD
CA304689977 rs866055419	134	Q>H		No	ClinGen Ensembl
CA9116563 rs760235580	137	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9116560 rs759158049	138	G>E		No	ClinGen ExAC gnomAD
CA9116562 rs200309748	138	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9116561 rs200309748	138	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1387305265 CA403557380	139	G>E		No	ClinGen TOPMed
TCGA novel	139	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9116559 rs576156353	140	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1297569199 CA403557274	143	L>V		No	ClinGen gnomAD
CA304689965 rs897304780	146	Y>*		No	ClinGen TOPMed
CA403557190 rs1281144145	146	Y>C		No	ClinGen TOPMed
CA9116557 rs777655979	148	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9116556 rs777655979	148	P>R		No	ClinGen ExAC TOPMed gnomAD
rs866634408 CA304689963	148	P>S		No	ClinGen TOPMed
rs941079069 CA304689957	149	P>S		No	ClinGen TOPMed
rs889482246 CA304689955	150	E>K		No	ClinGen TOPMed
CA403557082 rs1368878732	151	G>D		No	ClinGen TOPMed gnomAD
CA403557080 rs1368878732	151	G>V		No	ClinGen TOPMed gnomAD
rs1049400715 CA304689952	152	P>L		No	ClinGen TOPMed
rs747081476 CA9116554	152	P>S		No	ClinGen ExAC TOPMed gnomAD
CA304689948 rs769556027	153	G>A		No	ClinGen Ensembl
rs556281925 COSM4127946 CA9116552	153	G>R	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1568383486 CA403557019	155	E>K		No	ClinGen Ensembl
CA9116551 rs750655858	156	A>T		No	ClinGen ExAC TOPMed gnomAD
CA304689945 rs922560348	158	G>C		No	ClinGen TOPMed gnomAD
CA403556978 rs922560348	158	G>S		No	ClinGen TOPMed gnomAD
CA403556942 rs1356733727	160	V>A		No	ClinGen gnomAD
CA9116550 rs779480868	160	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	162	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764732747 CA9116547	162	D>G		No	ClinGen ExAC TOPMed gnomAD
rs754440740 CA9116548	162	D>H		No	ClinGen ExAC
CA9116546 rs756628296	163	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752149946 CA9116545	164	G>R		No	ClinGen ExAC gnomAD
CA403556902 rs1311479669	165	P>H		No	ClinGen gnomAD
CA403556905 rs1286440388	165	P>S		No	ClinGen TOPMed
CA9116543 rs759166641	166	A>T		No	ClinGen ExAC TOPMed gnomAD
rs774031449 CA403556893	167	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9116542 rs774031449	167	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9116541 rs766200255	168	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1375705650 CA403556882	169	V>M		No	ClinGen TOPMed gnomAD
rs1012676291 CA304689924	174	P>L		No	ClinGen TOPMed gnomAD
CA403556846 rs1599613023	175	P>A		No	ClinGen Ensembl
CA9116539 rs772941424	175	P>L		No	ClinGen ExAC gnomAD
CA403556839 rs1599613018	176	L>P		No	ClinGen Ensembl
TCGA novel	178	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748051566 CA9116537	179	G>C		No	ClinGen ExAC
rs746127683 CA9116535	180	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746127683 CA9116534	180	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA403556816 rs1282247081	180	P>S		No	ClinGen Ensembl
CA9116532 rs757518045	181	A>V		No	ClinGen ExAC TOPMed gnomAD
rs141874203 CA9116531	182	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403556799 rs1205461676	183	L>P		No	ClinGen gnomAD
CA403556791 rs1229304708	185	P>S		No	ClinGen gnomAD
CA403556789 rs1229304708	185	P>T		No	ClinGen gnomAD
CA403556780 rs1318898925	186	P>L		No	ClinGen gnomAD
rs766982932 CA403556778	187	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9116527 rs766982932	187	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9116526 rs74315694	188	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs116676566 CA9116525	188	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403556771 rs116676566	188	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403556772 rs116676566	188	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403556765 rs1388445827	189	K>N		No	ClinGen gnomAD
CA9116522 rs762534737	189	K>Q		No	ClinGen ExAC TOPMed
TCGA novel	190	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403556762 rs1321576895	190	E>Q		No	ClinGen gnomAD
CA403556751 rs1170020122	191	N>T		No	ClinGen gnomAD
CA403556746 rs1454003353	192	K>E		No	ClinGen gnomAD
CA403556743 rs1365144138	192	K>R		No	ClinGen TOPMed gnomAD
rs1162120548 CA403556736	193	P>L		No	ClinGen gnomAD
rs776598341 CA9116519	194	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776598341 CA9116518	194	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1463479776 CA403556719	195	P>L		No	ClinGen gnomAD
rs1568383384 CA403556707	196	V>A		No	ClinGen Ensembl
rs1201431980 CA403556714	196	V>I		No	ClinGen gnomAD
rs1247197333 CA403556697	197	L>F		No	ClinGen TOPMed gnomAD
rs370546938 CA403556665	199	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3723217 rs745978513 CA9116516	199	T>M	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs370546938 CA9116517	199	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9116514 rs771295513	200	L>V		No	ClinGen ExAC TOPMed gnomAD
CA403556628 rs1317244412	201	P>L		No	ClinGen gnomAD
rs749511542 CA9116513	203	E>K		No	ClinGen ExAC gnomAD
CA9116512 rs145695463	205	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9116510 rs748653566	207	P>S		No	ClinGen ExAC gnomAD
CA9116509 rs755400297	208	P>L		No	ClinGen ExAC TOPMed gnomAD
rs755400297 CA9116508	208	P>R		No	ClinGen ExAC TOPMed gnomAD
rs367951512 CA403556453	209	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142476520 CA9116504	210	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764978891 CA9116502	211	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs932763627 CA304689880	212	S>R		No	ClinGen Ensembl
rs1264960861 CA403556375	213	H>Y		No	ClinGen gnomAD
CA403556309 rs1488919714	215	Q>*		No	ClinGen gnomAD
CA9116501 rs2436489	215	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2436489 CA403556305	215	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1342107128 CA403556284	216	G>D		No	ClinGen TOPMed gnomAD
rs753523909 CA9116500	216	G>S		No	ClinGen ExAC gnomAD
rs1342107128 CA403556283	216	G>V		No	ClinGen TOPMed gnomAD
rs560125128 CA403556250	217	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA403556238 rs1568383329	218	L>V		No	ClinGen Ensembl
rs771133847 CA9116496	219	G>D		No	ClinGen ExAC gnomAD
CA9116497 rs774634730	219	G>S	Variant assessed as Somatic; 0.0002045 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763309492 CA9116495	220	H>R		No	ClinGen ExAC gnomAD
CA403556103 rs1345675628	222	P>L		No	ClinGen gnomAD
CA9116494 rs373858605	223	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9116493 rs769862287	224	P>L		No	ClinGen ExAC gnomAD
CA9116491 rs533225306	225	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9116488 rs779605170	226	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9116489 rs779605170	226	P>T		No	ClinGen ExAC TOPMed gnomAD
CA403555991 rs1271260162	227	L>P		No	ClinGen gnomAD
CA403555986 rs1180264978	228	A>T		No	ClinGen gnomAD
rs750123018 CA9116486	229	F>L		No	ClinGen ExAC TOPMed gnomAD
CA9116484 rs144412457	231	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763788071 CA9116482	232	K>N		No	ClinGen ExAC TOPMed gnomAD
CA403555881 rs1345774847	234	L>R		No	ClinGen TOPMed gnomAD
CA304689853 rs958507257	236	G>D		No	ClinGen gnomAD
rs1478305879 CA403555860	236	G>S		No	ClinGen TOPMed gnomAD
rs376876076 CA9116480	237	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA403555825 rs1328928064	238	G>R		No	ClinGen gnomAD
rs1399934898 CA403555807	239	A>S		No	ClinGen gnomAD
rs562242210 CA9116478	239	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1470172044 CA403555796	240	R>*		No	ClinGen gnomAD
CA9116477 rs773387734	240	R>Q	Variant assessed as Somatic; 5.212e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs542587771 CA9116476	241	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs10406087 CA304689843	243	V>A		No	ClinGen Ensembl
CA304689846 rs890337947	243	V>M		No	ClinGen gnomAD
CA9116474 rs777112272	244	P>H		No	ClinGen ExAC gnomAD
TCGA novel	244	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780513884 CA9116471	247	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9116472 rs747553268	247	P>S		No	ClinGen ExAC gnomAD
CA9116470 rs34572934	248	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9116468 rs778215850	251	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA403555555 rs778215850	251	S>R		No	ClinGen ExAC TOPMed gnomAD
CA9116466 rs376782034	252	E>K		No	ClinGen ESP TOPMed
CA9116465 rs756943059	253	L>F		No	ClinGen ExAC gnomAD
rs748892664 CA9116464	256	A>G		No	ClinGen ExAC gnomAD
CA403555472 rs1599612680	256	A>S		No	ClinGen Ensembl
CA304689824 rs1038408107	257	E>K		No	ClinGen gnomAD
CA9116462 rs576827451	258	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403555414 rs1456921903	259	K>N		No	ClinGen gnomAD
CA403555375 rs1160391391	261	G>R		No	ClinGen gnomAD
CA304689821 rs889930683	262	A>S		No	ClinGen TOPMed gnomAD
rs553839780 CA9116460	263	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754898595 CA9116459	266	A>S		No	ClinGen ExAC gnomAD
rs1246586720 CA403555223	267	G>D		No	ClinGen gnomAD
rs750529950 CA9116458	267	G>S		No	ClinGen ExAC gnomAD
TCGA novel	268	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	270	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs900875675 CA403555117	271	A>D		No	ClinGen TOPMed gnomAD
rs900875675 CA403555113	271	A>G		No	ClinGen TOPMed gnomAD
rs900875675 CA304689810	271	A>V		No	ClinGen TOPMed gnomAD
CA304689808 rs917473776	272	P>L		No	ClinGen Ensembl
CA9116455 rs776685795	273	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	273	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764490669 CA9116454	274	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1568383168 CA403555002	275	A>D		No	ClinGen Ensembl
rs1295169715 CA403554963	277	A>G		No	ClinGen gnomAD
CA403554975 rs1378038049	277	A>S		No	ClinGen TOPMed gnomAD
rs1378038049 CA403554978	277	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	278	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403554939 rs1434022701	279	A>V		No	ClinGen gnomAD
rs772568320 CA403554938	280	L>M		No	ClinGen ExAC gnomAD
rs772568320 CA9116451	280	L>V		No	ClinGen ExAC gnomAD
rs746312379 CA9116450	281	P>A		No	ClinGen ExAC gnomAD
CA9116449 rs773981799	281	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1179501850 CA403554905	282	D>E		No	ClinGen TOPMed
CA9116448 rs770319440	283	K>E		No	ClinGen ExAC TOPMed gnomAD
CA403554891 rs1388810279	283	K>N		No	ClinGen gnomAD
rs770319440 CA403554903	283	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA9116447 rs749022153	283	K>R		No	ClinGen ExAC gnomAD
CA9116446 rs777315752	284	V>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	284	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9116444 rs747962873	289	A>S		No	ClinGen ExAC TOPMed gnomAD
CA304689794 rs866925221	290	M>I		No	ClinGen Ensembl
rs1334889134 CA403554784	291	K>M		No	ClinGen gnomAD
CA9116443 rs781076534	292	L>F		No	ClinGen ExAC gnomAD
CA403554770 rs1449458898	292	L>H		No	ClinGen gnomAD
CA403554746 rs139287768	293	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765398189 CA9116440	294	D>E		No	ClinGen ExAC TOPMed gnomAD
CA9116441 rs751446216	294	D>N		No	ClinGen ExAC TOPMed gnomAD
CA403554710 rs1337057774	295	C>*		No	ClinGen TOPMed
rs1213889108 CA403554698	296	L>Q		No	ClinGen gnomAD
CA9116439 rs757260642	297	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	299	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403554659 rs926409059	299	A>S		No	ClinGen TOPMed gnomAD
CA304689786 rs926409059	299	A>T		No	ClinGen TOPMed gnomAD
rs1330673419 CA403554656	299	A>V		No	ClinGen gnomAD
CA9116437 rs374105253	300	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1480161279 CA403554621	301	E>D		No	ClinGen TOPMed
rs760817159 CA9116436	302	P>L		No	ClinGen ExAC
CA9116435 rs767850715	303	E>A		No	ClinGen ExAC gnomAD
CA9116434 rs767850715	303	E>G		No	ClinGen ExAC gnomAD
rs369298106 CA9116433	306	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs950170722 CA304689778	307	C>R		No	ClinGen TOPMed
CA9116432 rs771423484	307	C>W		No	ClinGen ExAC TOPMed gnomAD
CA9116430 rs201369877	308	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA9116429 rs201911802	309	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1267674992 CA403554499	310	P>S		No	ClinGen gnomAD
rs747790686 CA9116427	312	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	316	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9116424 rs747015675	317	S>N		No	ClinGen ExAC gnomAD
rs779876772 CA9116423	318	S>R		No	ClinGen ExAC TOPMed gnomAD
CA9116421 rs756209454	319	G>S		No	ClinGen ExAC TOPMed gnomAD
CA403554334 rs1399237522	320	G>R		No	ClinGen TOPMed
CA403554287 rs1437412318	322	S>L		No	ClinGen gnomAD
rs756382762 CA9116418	324	D>G		No	ClinGen ExAC gnomAD
rs148475602 CA9116419	324	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs201603789 CA9116416	327	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759843689 CA9116415	327	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751915954 CA304689753	328	S>*		No	ClinGen ExAC TOPMed gnomAD
rs751915954 CA403554189	328	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751915954 CA9116414	328	S>W		No	ClinGen ExAC TOPMed gnomAD
CA9116412 rs763461644	330	C>R		No	ClinGen ExAC gnomAD
CA403554149 rs772915361	331	L>V		No	ClinGen ExAC TOPMed gnomAD
CA403554135 rs1263518422	332	P>A		No	ClinGen gnomAD
CA9116409 rs376839349	332	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376839349 CA9116408	332	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369002580 CA9116406	333	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9116404 rs771913811	334	E>A		No	ClinGen ExAC gnomAD
CA9116405 rs779829356	334	E>K		No	ClinGen ExAC gnomAD
CA403554072 rs1301646669	335	L>P		No	ClinGen gnomAD
CA403554046 rs1452539841	337	S>F		No	ClinGen gnomAD
rs745800936 CA9116403	340	Y>C		No	ClinGen ExAC gnomAD
CA304689737 rs1009250895	340	Y>H		No	ClinGen TOPMed gnomAD
CA9116401 rs375770525	341	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs781426775 CA403554010	342	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9116399 rs781426775	342	V>M	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA304689730 rs752846662	343	P>T		No	ClinGen TOPMed gnomAD
rs755164083 CA9116398	347	D>Y		No	ClinGen ExAC gnomAD
CA304689728 rs868327190	348	T>I		No	ClinGen Ensembl
rs867395644 CA304689725	349	V>M		No	ClinGen TOPMed gnomAD
CA403553959 rs1360820928	350	S>F		No	ClinGen TOPMed
CA403553957 rs1380382007	351	N>D		No	ClinGen TOPMed
rs1297466247 CA403553954	351	N>S		No	ClinGen TOPMed
rs141523479 CA9116394	352	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9116393 rs764887939	353	D>H		No	ClinGen ExAC gnomAD
CA304689720 rs764887939	353	D>N		No	ClinGen ExAC gnomAD
rs917544180 CA304689716	354	Y>D		No	ClinGen TOPMed
rs547919164 CA9116391	355	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs760314756 CA9116389	355	F>L		No	ClinGen ExAC TOPMed gnomAD
rs547919164 CA403553913	355	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9116390 rs776239985	355	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA304689709 rs767807937	357	N>K		No	ClinGen TOPMed
rs775204354 CA403553840	358	F>L		No	ClinGen ExAC gnomAD
CA403553845 rs1384669008	358	F>S		No	ClinGen gnomAD
CA403553809 rs1453987757	360	A>S		No	ClinGen gnomAD
CA9116383 rs745859054	360	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	362	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9116380 rs112051936	362	D>N		No	ClinGen ExAC gnomAD
CA9116378 rs780324440 CA9116377	363	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1344029308 CA403553753	363	E>G		No	ClinGen TOPMed
rs1054508120 CA304689698	363	E>K		No	ClinGen TOPMed
CA403553743 rs1568382913	364	E>Q		No	ClinGen Ensembl
rs1404081535 CA403553725	365	Q>R		No	ClinGen TOPMed
CA9116374 rs113531842	366	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9116372 rs757770595	368	H>P		No	ClinGen ExAC gnomAD
CA9116371 rs753408386	368	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs984426540 CA304689686	368	H>Y		No	ClinGen TOPMed gnomAD
rs375221077 CA9116370	369	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA403553703 rs1599612275	369	P>S		No	ClinGen Ensembl
rs548876705 CA9116367	371	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA9116368 rs775173314	371	P>T		No	ClinGen ExAC gnomAD
CA403553682 rs1599612251	373	A>S		No	ClinGen Ensembl
rs1599612249 CA403553679	373	A>V		No	ClinGen Ensembl
rs1165466144 CA403553677	374	T>A		No	ClinGen gnomAD
rs774069304 CA9116363	374	T>I		No	ClinGen ExAC TOPMed gnomAD
CA403553675 rs774069304	374	T>N		No	ClinGen ExAC TOPMed gnomAD
CA403553678 rs1165466144	374	T>S		No	ClinGen gnomAD
rs1599612243 CA403553663	376	T>P		No	ClinGen Ensembl
CA9116360 rs371908782	377	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs749211882 CA9116361	377	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749211882 CA403553659	377	P>T		No	ClinGen ExAC TOPMed gnomAD
rs532011508 CA9116358	378	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403553648 rs1301071254	379	P>A		No	ClinGen TOPMed
CA403553620 rs1437132006	380	I>S		No	ClinGen TOPMed
CA9116355 rs746237762	382	S>F		No	ClinGen ExAC gnomAD
CA403553598 rs1203655782	382	S>T		No	ClinGen gnomAD
rs1196547695 CA403553562	384	K>R		No	ClinGen gnomAD
rs779361431 CA9116354	385	R>G		No	ClinGen ExAC gnomAD
CA304689662 rs796377558	385	R>K		No	ClinGen TOPMed
rs1310785245 CA403553533	386	K>E		No	ClinGen gnomAD
rs757893490 CA9116353	386	K>R		No	ClinGen ExAC TOPMed gnomAD
CA9116351 rs545775005	387	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1304369933 CA403553508	387	A>V		No	ClinGen gnomAD
CA403553495 rs576775102	388	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9116350 rs755624474	388	S>A		No	ClinGen ExAC gnomAD
rs576775102 CA9116349	388	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9116347 rs759133214	389	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA403553481 rs759133214	389	T>R		No	ClinGen ExAC TOPMed gnomAD
rs766160524 CA9116345	390	A>T		No	ClinGen ExAC TOPMed gnomAD
CA304689649 rs1047128939	390	A>V		No	ClinGen Ensembl
CA9116344 rs559986558	391	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1179706048 CA403553405	394	K>*		No	ClinGen gnomAD
CA9116340 rs199650444	395	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9116342 rs199650444	395	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9116341 rs199650444	395	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1290874769 CA403553321	398	K>M		No	ClinGen gnomAD
CA9116338 COSM3933211 rs200100125	399	A>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9116336 rs771387215	400	R>S		No	ClinGen ExAC gnomAD
rs779484936 CA9116337	400	R>W		No	ClinGen ExAC
CA9116334 rs778379607	402	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9116335 rs778379607	402	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1284680901 CA403553229	403	A>T		No	ClinGen gnomAD
rs1329501110 CA403553211	404	G>A		No	ClinGen gnomAD
rs1334635477 CA403553220	404	G>R		No	ClinGen gnomAD
rs574525139 CA9116331	406	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs763379652 CA304689633	408	A>T		No	ClinGen TOPMed
CA9116328 rs751183514	409	T>A		No	ClinGen ExAC gnomAD
rs762760503 CA9116326	410	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9116325 rs750144834	410	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762760503 CA9116327	410	P>S		No	ClinGen ExAC TOPMed gnomAD
CA403553139 rs762760503	410	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9116322 COSM1133564 rs537666246	411	P>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA9116323 rs761597151	411	P>S		No	ClinGen ExAC TOPMed gnomAD
rs759873808 CA9116320	415	E>G		No	ClinGen ExAC TOPMed gnomAD
CA9116319 rs774689859	416	D>G		No	ClinGen ExAC gnomAD
rs1280358902 CA403553003	416	D>N		No	ClinGen TOPMed gnomAD
CA403552961 rs1297453949	417	L>R		No	ClinGen gnomAD
CA9116318 rs771225778	420	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1241106055 CA403552873	421	P>L		No	ClinGen TOPMed gnomAD
CA403552851 rs1404386017	422	H>Q		No	ClinGen gnomAD
CA9116315 rs770393581	422	H>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q8IZ63

No regional properties for Q8IZ63

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8IZ63

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

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

10	20	30	40	50	60
MQHPKPFCAP	AAPQEGFSPQ	SLEGAEVLGN	QPAPTCAEPP	PAMGSLNLYH	PPDPEKEVFP
70	80	90	100	110	120
APPAGFQMAP	CGCFFDPRIY	RIEWTTPDLG	QSALYKLAAS	SGGPAGVPSA	PGSYLLEPQP
130	140	150	160	170	180
YLKAPGLPPY	PHYQQAPGGP	QFLLPYFPPE	GPGPEALGFV	GDAGPAAFVE	LPLPPLEEGP
190	200	210	220	230	240
APLPPPPPKE	NKPPPVLITL	PAEPTLPPDA	YSHLQGHLGH	FPGPEPLAFP	VKELQGSGAR
250	260	270	280	290	300
PGVPLYPPGL	SELKVAEVKE	GALLGAGKAK	APKTARALAL	PDKVLLEDAM	KLFDCLPGAS
310	320	330	340	350	360
EPEGTLCEVP	GPALPDSSGG	NSADDIRSLC	LPEELLSFDY	SVPEILDTVS	NVDYFFNFKA
370	380	390	400	410	420
LDEEQPPHPG	PPATNTPAPI	LSGKRKASTA	KKGKPGRKAR	QPAGPASATP	PGPREDLGAT

PH