AiPD: Autoinhibited Protein Database

Q7Z4H9

Gene name	FAM220A (C7orf70, SIPAR)
Protein name	Protein FAM220A
Names	STAT3-interacting protein as a repressor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84792
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-99 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-99 (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 Q7Z4H9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7Z4H9-F1	Predicted				AlphaFoldDB

313 variants for Q7Z4H9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4153536 rs765090907	6	G>E		No	ClinGen ExAC gnomAD
rs1375403583 CA366765449	7	P>S		No	ClinGen TOPMed
rs1465156475 CA366765435	8	L>F		No	ClinGen TOPMed
CA366765431 rs1376781348	8	L>R		No	ClinGen gnomAD
rs141431226 CA4153534	9	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA366765406 rs1397850461	10	T>I		No	ClinGen TOPMed
CA366765411 rs1562444128	10	T>S		No	ClinGen Ensembl
rs760345510 CA4153532	14	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs760345510 CA153339557	14	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA366764984 rs1401523895	16	Q>*		No	ClinGen gnomAD
CA366764982 rs1409837052	16	Q>R		No	ClinGen gnomAD
TCGA novel	17	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4153531 rs145321809	18	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769285357 CA366764963	19	G>A		No	ClinGen ExAC TOPMed gnomAD
CA4153527 rs769285357	19	G>E		No	ClinGen ExAC TOPMed gnomAD
CA4153528 rs774006557	19	G>R		No	ClinGen ExAC gnomAD
CA153339536 rs1028989157	20	G>E		No	ClinGen TOPMed gnomAD
CA4153526 rs763615805	21	G>D		No	ClinGen ExAC TOPMed gnomAD
CA366764956 rs1216017106	21	G>S		No	ClinGen gnomAD
CA4153525 rs775890978	23	S>L		No	ClinGen ExAC gnomAD
rs746262883 CA4153523	24	D>G		No	ClinGen ExAC
CA366764927 rs1176296760	24	D>N		No	ClinGen TOPMed gnomAD
rs1583235259 CA366764896	25	K>E		No	ClinGen Ensembl
CA4153522 rs781210030	25	K>I		No	ClinGen ExAC gnomAD
rs1455065236 CA366764878	26	L>V		No	ClinGen gnomAD
rs1195286966 CA366764861	27	S>L		No	ClinGen Ensembl
rs555209057 CA4153520	28	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4153519 rs777886778	28	C>S		No	ClinGen ExAC gnomAD
rs754885594 CA4153518	29	S>T		No	ClinGen ExAC TOPMed gnomAD
CA153339511 rs377601840	30	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4153517 rs377601840	30	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1418858822 CA366764820	31	K>E		No	ClinGen gnomAD
rs1385635749 CA366764817	31	K>R		No	ClinGen gnomAD
rs780072916 CA4153516	32	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1158018309 CA366764789	33	R>T		No	ClinGen TOPMed
CA4153515 rs781011100	34	M>T		No	ClinGen ExAC TOPMed gnomAD
rs751104962 CA4153512	35	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4153511 rs751104962	35	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs767015560 CA4153513	35	P>S		No	ClinGen ExAC TOPMed gnomAD
rs767015560 CA4153514	35	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	38	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs902702278 CA153339417	39	W>R		No	ClinGen TOPMed
rs775809752 CA4153508	41	A>T		No	ClinGen ExAC gnomAD
rs1292985479 CA366764697	42	D>G		No	ClinGen gnomAD
CA153339404 rs200767022	42	D>H		No	ClinGen ESP TOPMed gnomAD
CA366764701 rs200767022	42	D>Y		No	ClinGen ESP TOPMed gnomAD
CA366764687 rs1248754008	43	A>S		No	ClinGen gnomAD
CA366764689 rs1248754008	43	A>T		No	ClinGen gnomAD
rs770342456 CA4153507	43	A>V		No	ClinGen ExAC gnomAD
CA153339382 rs775619079	44	P>L		No	ClinGen Ensembl
rs1239324607 CA366764678	44	P>S		No	ClinGen TOPMed gnomAD
CA366764667 rs1215221177	45	S>F		No	ClinGen gnomAD
CA366764647 rs1224240351	47	M>V		No	ClinGen TOPMed
rs777118841 CA4153505	48	N>H		No	ClinGen ExAC TOPMed gnomAD
CA4153504 rs771127935	48	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1365923160 CA366764605	50	P>H		No	ClinGen gnomAD
rs1211079533 CA366764597	51	V>M		No	ClinGen TOPMed gnomAD
CA366764558 rs1367810304	55	N>D		No	ClinGen gnomAD
CA366764527 rs1416791721	57	Q>H		No	ClinGen TOPMed gnomAD
CA366764529 rs1429707290	57	Q>L		No	ClinGen gnomAD
rs369794490 CA4153501	59	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	61	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779799309 CA4153499	62	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772274825 CA153339336	63	L>P		No	ClinGen Ensembl
CA366764402 rs1562444015	64	E>A		No	ClinGen Ensembl
CA366764379 rs1265363632	65	M>I		No	ClinGen gnomAD
rs551687469 CA366764386	65	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551687469 CA366764384	65	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551687469 CA4153498	65	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs892896757 CA153339287	67	K>E		No	ClinGen TOPMed
rs1220855078 CA366764318	68	D>G		No	ClinGen gnomAD
CA4153497 rs750185672	69	P>L		No	ClinGen ExAC TOPMed gnomAD
rs750185672 CA366764308	69	P>R		No	ClinGen ExAC TOPMed gnomAD
rs751213582 CA4153494	70	S>C		No	ClinGen ExAC gnomAD
CA366764281 rs763859545	70	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1380699106 CA366764266	71	G>A		No	ClinGen TOPMed gnomAD
VAR_039375 CA4153492 rs3750041	71	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4153490 rs765656999	72	A>T		No	ClinGen ExAC gnomAD
rs776836047 CA4153488	73	G>D		No	ClinGen ExAC gnomAD
CA4153487 rs766768785	74	L>F		No	ClinGen ExAC TOPMed gnomAD
rs766768785 CA366764218	74	L>V		No	ClinGen ExAC TOPMed gnomAD
CA366764185 rs1352217933	76	L>F		No	ClinGen gnomAD
CA4153486 rs761060375	77	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA4153485 rs773375237	78	S>N		No	ClinGen ExAC gnomAD
CA153339181 rs779481180	79	G>S		No	ClinGen Ensembl
CA4153483 rs748111466	80	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1431735112 CA366764114	80	G>D		No	ClinGen gnomAD
rs1196835335 CA366764106	81	P>S		No	ClinGen gnomAD
CA366764092 rs1583235104	82	V>G		No	ClinGen Ensembl
CA366764095 rs1256770190	82	V>L		No	ClinGen gnomAD
CA366764100 rs1256770190	82	V>M		No	ClinGen gnomAD
TCGA novel	83	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4153481 rs190726897	86	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA366764032 rs1221929237	87	R>K		No	ClinGen gnomAD
rs1330251045 CA366764023	87	R>S		No	ClinGen gnomAD
rs1456066918 CA366764020	88	E>K		No	ClinGen TOPMed
CA366763985 rs1237928664	90	V>E		No	ClinGen TOPMed
CA4153479 rs781106832	90	V>I		No	ClinGen ExAC gnomAD
CA4153477 rs746812005	92	R>K		No	ClinGen ExAC gnomAD
CA153339156 rs940591305	93	N>S		No	ClinGen TOPMed
rs758133343 CA4153475	94	P>L		No	ClinGen ExAC
rs1173740710 CA366763915	94	P>S		No	ClinGen gnomAD
rs1333068160 CA366763873	96	S>L		No	ClinGen gnomAD
CA4153474 rs752133978	96	S>P		No	ClinGen ExAC gnomAD
rs754304607 CA4153471	97	A>P		No	ClinGen ExAC TOPMed gnomAD
rs200014613 CA4153467	99	T>A		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs1461783656 CA366763802	99	T>I		No	ClinGen gnomAD
rs760972457 CA366763799	100	P>A		No	ClinGen ExAC gnomAD
rs549238900 CA4153464	100	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549238900 CA4153465	100	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4153466 rs760972457	100	P>S		No	ClinGen ExAC gnomAD
TCGA novel	100	P>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA153339078 rs754374539	101	S>R		No	ClinGen gnomAD
CA4153462 rs774275392	103	A>P		No	ClinGen ExAC gnomAD
rs1384299029 CA366763712	104	V>A		No	ClinGen gnomAD
rs372003752 CA4153460	104	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4153459 rs776649981	105	G>S		No	ClinGen ExAC gnomAD
CA366763668 rs1301661892	106	L>F		No	ClinGen TOPMed
rs1416039148 CA366763659	107	F>L		No	ClinGen gnomAD
CA366763634 rs1385210349	108	P>A		No	ClinGen gnomAD
rs1385210349 CA366763629	108	P>S		No	ClinGen gnomAD
rs145280206 CA4153455	110	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA366763564 rs1158525717	110	P>L		No	ClinGen gnomAD
rs1401063088 CA366763561	111	T>A		No	ClinGen TOPMed
rs1445801985 CA366763549	111	T>R		No	ClinGen gnomAD
CA366763532 rs1441971045	112	E>D		No	ClinGen gnomAD
CA4153453 rs747873001	112	E>G		No	ClinGen ExAC TOPMed gnomAD
rs757965191 CA4153454	112	E>Q		No	ClinGen ExAC gnomAD
rs1262684820 CA366763529	113	C>R		No	ClinGen TOPMed gnomAD
rs778460837 CA4153452	114	F>S		No	ClinGen ExAC
CA366763493 rs1487152320	115	A>V		No	ClinGen TOPMed gnomAD
CA366763490 rs1285068144	116	R>G		No	ClinGen gnomAD
rs148485779 CA153338953	116	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4153451 rs148485779 COSM453284	116	R>Q	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA366763489 rs1285068144	116	R>W		No	ClinGen gnomAD
rs1282416207 CA366763476	117	V>L		No	ClinGen gnomAD
rs1562443856 CA366763461	118	S>A		No	ClinGen Ensembl
CA366763455 rs1207917995	118	S>F		No	ClinGen TOPMed
rs760832948 CA153338916	120	S>G		No	ClinGen Ensembl
CA4153449 rs780472883	120	S>N		No	ClinGen ExAC TOPMed gnomAD
rs750777892 CA4153447	121	G>D		No	ClinGen ExAC TOPMed gnomAD
rs756681353 CA366763421	121	G>R		No	ClinGen ExAC gnomAD
CA4153448 rs756681353	121	G>S		No	ClinGen ExAC gnomAD
rs1380193866 CA366763402	122	V>G		No	ClinGen TOPMed gnomAD
CA366763411 rs1312722343	122	V>I		No	ClinGen TOPMed gnomAD
rs1358983369 CA366763400	123	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1297940198 CA366763369	124	A>V		No	ClinGen gnomAD
rs3750040 CA4153445	127	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs3750040 CA366763338	127	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs3750040 VAR_039376 CA4153444	127	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767978398 CA4153446	127	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs577867037 CA4153443	128	R>*		No	ClinGen 1000Genomes ExAC gnomAD
CA4153442 rs763058230	128	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA366763314 rs1476981449	129	D>N		No	ClinGen gnomAD
rs1055571120 CA153338861	130	W>S		No	ClinGen TOPMed gnomAD
CA4153438 rs760742712	134	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA366763251 rs1395503970	135	P>S		No	ClinGen gnomAD
CA4153436 rs541214041	136	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs747919117 CA4153435	136	R>M		No	ClinGen ExAC
CA366763239 rs1283589079	137	A>D		No	ClinGen gnomAD
rs1283589079 CA366763237	137	A>V		No	ClinGen gnomAD
rs1405924803 CA366763232	138	T>S		No	ClinGen TOPMed gnomAD
rs371965230 CA153338749	139	D>G		No	ClinGen ESP gnomAD
rs1583234977 CA366763220	140	G>D		No	ClinGen Ensembl
rs574202041 CA4153433	140	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1169690583 CA366763207	141	H>R		No	ClinGen gnomAD
rs748793663 CA4153432	141	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs756595322 CA4153430	144	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs779600992 CA4153431	144	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs750970480 CA4153429	145	C>F		No	ClinGen ExAC TOPMed gnomAD
COSM4162336 CA4153427 rs75910050	146	P>L	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs781584523 CA4153428	146	P>S		No	ClinGen ExAC gnomAD
CA4153426 rs368468737	147	K>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
TCGA novel	148	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366763103 rs1438295785	148	G>E		No	ClinGen gnomAD
rs763321511 CA4153424	150	P>L		No	ClinGen ExAC TOPMed gnomAD
CA153338675 rs907785716 COSM1091153	150	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA4153422 rs138213138	151	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs374494633 CA4153423	151	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs773151230 CA4153420	154	R>*		No	ClinGen ExAC gnomAD
rs773151230 CA366763005	154	R>G		No	ClinGen ExAC gnomAD
CA366763001 rs771917863	154	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771917863 CA4153419 COSM1698356	154	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1351267090 CA366762962	156	P>L		No	ClinGen TOPMed
CA4153418 rs761604576	157	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1199022 CA4153417 rs576104923	157	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1177357640 CA366762931	158	H>L		No	ClinGen TOPMed gnomAD
TCGA novel	159	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs3750039 CA4153413 VAR_039377 CA4153414	161	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
rs111228806 CA4153412	162	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA366762847 rs111228806	162	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4153410 rs757767076	163	E>*		No	ClinGen ExAC gnomAD
rs747383609 CA4153409	164	M>I		No	ClinGen ExAC gnomAD
rs778044292 CA4153408	165	G>E		No	ClinGen ExAC gnomAD
CA4153406 rs758661244	168	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	171	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366762502 rs1252427333	172	P>A		No	ClinGen TOPMed
CA4153404 rs765579035	173	S>T		No	ClinGen ExAC gnomAD
rs1312024968 CA366762462	174	A>P		No	ClinGen gnomAD
rs186371761 CA4153403	174	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1440459707 CA366762398	177	K>Q		No	ClinGen TOPMed
rs535616324 CA4153401	180	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs535616324 CA366762319	180	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs761715667 CA4153400	181	S>C		No	ClinGen ExAC TOPMed gnomAD
rs761715667 CA366762277	181	S>F		No	ClinGen ExAC TOPMed gnomAD
CA366762271 rs1469891925	182	E>Q		No	ClinGen TOPMed
rs762772716 CA4153397	185	P>L		No	ClinGen ExAC gnomAD
CA4153398 rs763919944	185	P>S		No	ClinGen ExAC gnomAD
CA4153394 rs745374493	186	A>D		No	ClinGen ExAC TOPMed gnomAD
rs745374493 CA366762188	186	A>G		No	ClinGen ExAC TOPMed gnomAD
CA366762192 COSM1451767 rs1156709247	186	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4153395 rs745374493	186	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4153393 rs776061119	187	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1184879075 CA366762157	188	L>V		No	ClinGen gnomAD
rs771443961 CA4153392	189	H>P		No	ClinGen ExAC TOPMed gnomAD
rs771443961 CA153338429	189	H>R		No	ClinGen ExAC TOPMed gnomAD
CA366762099 rs1403210519	191	I>M		No	ClinGen TOPMed
CA4153391 rs148176924	192	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4153389 rs758786226	192	L>P		No	ClinGen ExAC gnomAD
rs779211959 CA4153387	193	S>C		No	ClinGen ExAC gnomAD
rs1400379293 CA366762027	195	T>A		No	ClinGen TOPMed
rs770725558 CA4153386	195	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1368153684 CA366761977	196	L>P		No	ClinGen gnomAD
CA366761951 rs766419414	197	H>L		No	ClinGen ExAC TOPMed gnomAD
CA4153384 rs766419414	197	H>P		No	ClinGen ExAC TOPMed gnomAD
rs757190608 CA4153383	197	H>Q		No	ClinGen ExAC
VAR_039378 rs6952125 CA4153382	198	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1302420635 CA366761909	199	Y>C		No	ClinGen gnomAD
rs906950543 CA153338349	200	P>L		No	ClinGen TOPMed
rs906950543 CA366761870	200	P>R		No	ClinGen TOPMed
CA153338351 rs1001321435	200	P>S		No	ClinGen TOPMed gnomAD
CA4153379 rs201248755	201	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4153378 rs372340570	203	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA366761790 rs1200617966	204	L>P		No	ClinGen TOPMed
rs1454438546 CA366761763	205	S>R		No	ClinGen gnomAD
CA366761778 rs1160544394	205	S>T		No	ClinGen gnomAD
CA4153376 rs759158359	206	E>G		No	ClinGen ExAC gnomAD
CA4153373 rs201671183	207	E>*		No	ClinGen ESP ExAC TOPMed
rs201671183 CA4153375	207	E>K		No	ClinGen ESP ExAC TOPMed
CA4153371 rs760253428	208	T>I		No	ClinGen ExAC gnomAD
CA4153370 rs563442989	209	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366761643 rs772710171	210	R>C		No	ClinGen ExAC
rs551319790 COSM3085015 CA4153368	210	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs772710171 CA4153369	210	R>S		No	ClinGen ExAC
rs142085380 CA366761629	211	I>L		No	ClinGen ESP ExAC gnomAD
CA366761615 rs1260659116	211	I>S		No	ClinGen gnomAD
rs142085380 CA4153367	211	I>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	212	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366761516 rs1043965	214	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769565676 CA4153366	214	D>H		No	ClinGen ExAC TOPMed gnomAD
CA4153363 rs756102302	215	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4153364 rs756102302	215	R>G		No	ClinGen ExAC TOPMed gnomAD
rs145063299 CA4153362	215	R>H		No	ClinGen ESP ExAC
CA366761493 rs756102302	215	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	216	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA153338219 rs61996359	217	K>N		No	ClinGen ESP TOPMed
rs777678849 CA4153361	218	P>S		No	ClinGen ExAC gnomAD
CA366761368 CA366761366 rs1264639289	219	M>I		No	ClinGen TOPMed gnomAD
CA4153360 rs758383812	219	M>V		No	ClinGen ExAC TOPMed gnomAD
CA366761333 rs1413945566	220	F>L		No	ClinGen TOPMed
rs765053848 CA4153358	221	S>*		No	ClinGen ExAC TOPMed gnomAD
rs765053848 CA4153359	221	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	222	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759405736 CA4153357	223	Q>L		No	ClinGen ExAC gnomAD
CA4153356 rs753380785	224	T>A		No	ClinGen ExAC gnomAD
rs370599325 CA4153355	224	T>I		No	ClinGen ESP ExAC gnomAD
CA366761221 rs370599325	224	T>R		No	ClinGen ESP ExAC gnomAD
CA153338163 rs879197545	225	I>M		No	ClinGen TOPMed
rs1220499982 CA366761199	225	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs772925227 CA4153354	226	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772925227 CA4153353	226	E>Q		No	ClinGen ExAC gnomAD
rs559612916 COSM274321 CA4153351	227	F>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA366761130 rs1338876418	228	K>R		No	ClinGen TOPMed
CA366761083 rs1562443602	229	K>N		No	ClinGen Ensembl
rs774826910 CA4153350	230	M>R		No	ClinGen ExAC gnomAD
CA366761082 rs1456359804	230	M>V		No	ClinGen gnomAD
rs1170512558 CA366761053	231	L>I		No	ClinGen TOPMed gnomAD
CA366761048 rs1170512558	231	L>V		No	ClinGen TOPMed gnomAD
CA366761030 rs1466789067	232	K>E		No	ClinGen gnomAD
CA366761033 rs1466789067	232	K>Q		No	ClinGen gnomAD
TCGA novel	234	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	234	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366760988 rs1421021195	234	T>S		No	ClinGen gnomAD
CA366760974 rs1192493171	235	S>L		No	ClinGen gnomAD
rs1193383898 CA366760957	236	D>G		No	ClinGen gnomAD
CA153338097 rs200690478	236	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200690478 CA4153349	236	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366760962 rs200690478	236	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs2241445 CA4153348 VAR_039379	237	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA366760914 rs1258607096	238	L>R		No	ClinGen gnomAD
rs780086355 CA4153347	238	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1487358232 CA366760907	239	Q>*		No	ClinGen Ensembl
rs376469614 CA4153346	239	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4153345 rs745930977	240	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4153344 rs781294060	241	T>I		No	ClinGen ExAC TOPMed gnomAD
CA153338026 rs959604965	242	L>V		No	ClinGen TOPMed gnomAD
rs544017902 CA4153342	245	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779790161 CA153338016	246	A>G		No	ClinGen Ensembl
CA153338017 rs982277821	246	A>P		No	ClinGen TOPMed
rs370901935 CA4153339	248	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4153340 rs199973666	248	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA366760674 rs1169451132	249	P>L		No	ClinGen gnomAD
rs1169451132 CA366760675	249	P>R		No	ClinGen gnomAD
rs1282462175 CA366760651	251	E>G		No	ClinGen TOPMed gnomAD
CA4153336 rs760435319	253	A>S		No	ClinGen ExAC gnomAD
rs760435319 CA366760639	253	A>T		No	ClinGen ExAC gnomAD
rs749931416 CA4153335	253	A>V		No	ClinGen ExAC gnomAD
CA366760635 rs1431856499	254	N>D		No	ClinGen gnomAD
CA4153334 rs151233913	254	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761442746 CA366760625	255	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4153333 rs761442746	255	T>K		No	ClinGen ExAC TOPMed gnomAD
rs761442746 CA366760626	255	T>R		No	ClinGen ExAC TOPMed gnomAD
CA366760605 rs1198136229	258	H>R		No	ClinGen gnomAD

No associated diseases with Q7Z4H9

No regional properties for Q7Z4H9

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q7Z4H9

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Cytoplasmic vesicle, secretory vesicle, acrosome	Localizes to both nucleus and cytoplasm but located predominantly in the nucleus Detected in the sperm acrosome prior to the acrosome reaction and is likely to be released from acrosome-reacted sperm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
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.

1 GO annotations of molecular function

Name	Definition
STAT family protein binding	Binding to a member of the signal transducers and activators of transcription (STAT) protein family. STATs are, as the name indicates, both signal transducers and transcription factors. STATs are activated by cytokines and some growth factors and thus control important biological processes including cell growth, cell differentiation, apoptosis and immune responses.

2 GO annotations of biological process

Name	Definition
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
protein dephosphorylation	The process of removing one or more phosphoric residues from a protein.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MRDRRGPLGT	CLAQVQQAGG	GDSDKLSCSL	KKRMPEGPWP	ADAPSWMNKP	VVDGNSQSEA
70	80	90	100	110	120
LSLEMRKDPS	GAGLWLHSGG	PVLPYVRESV	RRNPASAATP	STAVGLFPAP	TECFARVSCS
130	140	150	160	170	180
GVEALGRRDW	LGGGPRATDG	HRGQCPKGEP	RVSRLPRHQK	VPEMGSFQDD	PPSAFPKGLG
190	200	210	220	230	240
SELEPACLHS	ILSATLHVYP	EVLLSEETKR	IFLDRLKPMF	SKQTIEFKKM	LKSTSDGLQI
250
TLGLLALQPF	ELANTLCHS