AiPD: Autoinhibited Protein Database

Q9BYE7

Gene name	PCGF6 (MBLR, RNF134)
Protein name	Polycomb group RING finger protein 6
Names	Mel18 and Bmi1-like RING finger, RING finger protein 134
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84108
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-66 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-66 (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

2 structures for Q9BYE7

Entry ID	Method	Resolution	Chain	Position	Source
2DJB	NMR	-	A	124-182	PDB
AF-Q9BYE7-F1	Predicted				AlphaFoldDB

295 variants for Q9BYE7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5671951 CA212339336 rs767902294	3	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5671950 rs201686526	3	G>V		No	ClinGen ExAC TOPMed gnomAD
CA377968779 rs767902294	3	G>W		No	ClinGen ExAC TOPMed gnomAD
rs904324152 CA212339334	5	A>P		No	ClinGen Ensembl
CA5671949 rs774046455	5	A>V		No	ClinGen ExAC TOPMed gnomAD
CA212339333 rs1044647901	6	V>L		No	ClinGen TOPMed gnomAD
CA377968761 rs1304114830	7	V>L		No	ClinGen gnomAD
rs1592082353 CA377968754	8	T>A		No	ClinGen Ensembl
CA5671948 rs768431972	8	T>K		No	ClinGen ExAC gnomAD
rs1012815791 CA212339318	9	A>V		No	ClinGen Ensembl
rs1378524242 CA377968742	10	G>A		No	ClinGen TOPMed
rs775558277 CA5671946	10	G>S		No	ClinGen ExAC gnomAD
CA377968739 rs1421164322	11	S>G		No	ClinGen gnomAD
CA377968733 rs1380490151	11	S>R		No	ClinGen TOPMed gnomAD
rs1411009380 CA377968728	12	V>A		No	ClinGen TOPMed gnomAD
CA377968723 rs1187039179	13	G>D		No	ClinGen TOPMed gnomAD
rs1392457221 CA377968725	13	G>R		No	ClinGen gnomAD
CA5671945 rs769721696	14	A>G		No	ClinGen ExAC TOPMed
rs745428639 CA5671944	15	A>T		No	ClinGen ExAC TOPMed gnomAD
rs571651624 CA5671943	17	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5671942 rs770598636	18	E>K		No	ClinGen ExAC gnomAD
rs755427741 CA5671941	20	A>P		No	ClinGen ExAC TOPMed gnomAD
rs755427741 CA5671940	20	A>S		No	ClinGen ExAC TOPMed gnomAD
rs755427741 CA5671939	20	A>T		No	ClinGen ExAC TOPMed gnomAD
CA377968681 rs749610887	21	A>P		No	ClinGen ExAC TOPMed gnomAD
rs749610887 CA5671938	21	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1592082290 CA377968678	21	A>V		No	ClinGen Ensembl
CA5671936 rs756669304	22	A>G		No	ClinGen ExAC gnomAD
VAR_054312	23	L>LPP		No	UniProt
CA377968671 rs1227349819	23	L>M		No	ClinGen gnomAD
rs767666414 CA5671934	23	L>W		No	ClinGen ExAC TOPMed gnomAD
CA377968664 rs1405527062	24	P>A		No	ClinGen TOPMed
CA377968660 rs1564737810	24	P>L		No	ClinGen Ensembl
CA377968650 rs1592082260	26	P>L		No	ClinGen Ensembl
CA5671931 rs751750682	27	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5671932 rs757557974	27	P>S		No	ClinGen ExAC gnomAD
rs60968810 RCV000947281	27	P>missing		No	ClinVar dbSNP
rs200858964 CA212339215	29	V>A		No	ClinGen Ensembl
CA5671923 rs547044665	31	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1287063734 CA377968609	33	A>V		No	ClinGen gnomAD
rs910034457 CA212339189	35	T>N		No	ClinGen TOPMed gnomAD
rs910034457 CA377968599	35	T>S		No	ClinGen TOPMed gnomAD
rs528515143 CA5671922	36	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377968593 rs1351323818	36	P>L		No	ClinGen TOPMed gnomAD
rs1351323818 CA377968594	36	P>R		No	ClinGen TOPMed gnomAD
CA212339178 rs763154366	37	A>V		No	ClinGen Ensembl
rs923896712 CA212339147	38	P>L		No	ClinGen TOPMed
rs776119730 CA5671920	38	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	39	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377968574 rs746488571	40	A>G		No	ClinGen ExAC TOPMed gnomAD
CA377968577 rs1259438928	40	A>T		No	ClinGen TOPMed
rs746488571 CA5671918	40	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1300603361 CA377968566	42	E>K		No	ClinGen TOPMed gnomAD
CA377968555 rs1401351476	43	E>A		No	ClinGen TOPMed gnomAD
rs772983688 CA5671917	44	G>R		No	ClinGen ExAC gnomAD
CA377968542 rs1242206426	45	P>L		No	ClinGen gnomAD
rs1307108294 CA377968538	46	A>P		No	ClinGen TOPMed gnomAD
CA377968534 rs1592082146	46	A>V		No	ClinGen Ensembl
TCGA novel	47	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377968529 rs1306654715	47	P>L		No	ClinGen gnomAD
rs749709522 CA5671915	47	P>S		No	ClinGen ExAC gnomAD
CA377968526 rs1468190062	48	L>Q		No	ClinGen TOPMed
rs1172836688 CA377968519	49	S>C		No	ClinGen TOPMed
rs1295629376 CA377968517	50	E>*		No	ClinGen TOPMed gnomAD
rs1465232361 CA377968510	50	E>D		No	ClinGen TOPMed
CA212339096 rs986072436	51	T>M		No	ClinGen gnomAD
rs1160014094 CA377968493	53	A>V		No	ClinGen gnomAD
CA377968477 rs1473582138	56	C>Y		No	ClinGen gnomAD
rs1409836749 CA377968468	57	S>C		No	ClinGen gnomAD
TCGA novel	57	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377968466 rs1592082103	58	G>S		No	ClinGen Ensembl
CA377968454 rs1554866872	59	S>F		No	ClinGen Ensembl
CA5671908 rs764418443	59	S>P		No	ClinGen ExAC TOPMed gnomAD
rs879696874 CA212339063	60	R>P		No	ClinGen Ensembl
rs758497413 CA5671907	60	R>W		No	ClinGen ExAC gnomAD
rs911411093 CA212339058	61	P>A		No	ClinGen TOPMed gnomAD
rs986017043 CA212339035	62	P>R		No	ClinGen TOPMed
rs752565427 CA5671906	63	E>A		No	ClinGen ExAC gnomAD
CA377968420 rs1317981660	63	E>Q		No	ClinGen TOPMed
CA377968402 rs1197510905	64	L>Q		No	ClinGen TOPMed
rs764940684 CA5671905	64	L>V		No	ClinGen ExAC gnomAD
rs1228375680 CA377968384	65	E>D		No	ClinGen gnomAD
rs1303903766 CA377968372	66	P>L		No	ClinGen gnomAD
rs759478488 CA5671904	66	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1564737641 CA377968363	67	E>G		No	ClinGen Ensembl
rs776607617 CA5671903	67	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA377968352 rs1390313498	68	R>C		No	ClinGen gnomAD
CA5671902 rs766298294	68	R>L		No	ClinGen ExAC gnomAD
rs1256116821 CA377968343	69	S>C		No	ClinGen gnomAD
rs747461274 CA377968338	69	S>I		No	ClinGen gnomAD
rs747461274 CA212339011	69	S>T		No	ClinGen gnomAD
rs1245925931 CA377968321	71	G>C		No	ClinGen TOPMed
CA5671901 rs760271743	72	R>C		No	ClinGen ExAC gnomAD
CA5671900 rs561330452	76	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA377968256 rs1195752644	76	R>L		No	ClinGen TOPMed
CA377968235 rs1166258258	78	E>Q		No	ClinGen TOPMed
rs1196487531 CA377968206	80	E>K		No	ClinGen gnomAD
rs1432325070 CA377968177	81	D>E		No	ClinGen gnomAD
CA377968187 rs1393082903	81	D>Y		No	ClinGen TOPMed
CA377968161 rs922824435	82	E>D		No	ClinGen TOPMed
CA377968175 rs1406182818	82	E>K		No	ClinGen TOPMed
rs1364095376 CA377968152	83	E>G		No	ClinGen TOPMed
rs1248393150 CA377968155	83	E>Q		No	ClinGen gnomAD
CA377968103 rs1592082008	86	E>D		No	ClinGen Ensembl
rs761333383 CA5671896	86	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	87	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369763488 CA5671895	87	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	89	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377968051 rs1564737576	90	L>V		No	ClinGen Ensembl
rs1357955759 CA377968015	92	E>V		No	ClinGen TOPMed
CA377967996 rs1245198360	93	E>D		No	ClinGen gnomAD
CA377968006 rs1231696707	93	E>K		No	ClinGen gnomAD
rs1298752729 CA377967992	94	E>K		No	ClinGen TOPMed gnomAD
rs1363224850 CA377967955	96	E>*		No	ClinGen gnomAD
rs1363224850 CA377967958	96	E>K		No	ClinGen gnomAD
CA377967929 rs1220378093	98	E>K		No	ClinGen gnomAD
CA377967885 rs1487932948	100	D>E		No	ClinGen TOPMed
rs147906472 CA5671886	101	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370270840 CA377967877	101	M>T		No	ClinGen TOPMed
CA5671885 rs771314642	102	S>C		No	ClinGen ExAC gnomAD
rs771314642 CA377967868	102	S>G		No	ClinGen ExAC gnomAD
CA377967799 rs1190217792	106	L>W		No	ClinGen gnomAD
CA377967768 rs1383668080	109	E>K		No	ClinGen TOPMed
rs1012484780 CA212338893	110	G>R		No	ClinGen TOPMed gnomAD
CA5671883 rs747164839	111	G>S		No	ClinGen ExAC gnomAD
rs1564737483 CA377967733	111	G>V		No	ClinGen Ensembl
CA5671882 rs777672917	112	R>W		No	ClinGen ExAC gnomAD
CA377967717 rs1340304645	113	Q>*		No	ClinGen gnomAD
rs758647632 CA5671881	113	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1392380317 CA377967713	113	Q>L		No	ClinGen gnomAD
CA377967706 rs1449014142	114	D>Y		No	ClinGen gnomAD
rs139160000 CA5671880	115	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs149919157 CA212338844	115	S>A		No	ClinGen ESP
rs139160000 CA212338828	115	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377967670 rs1395408988	117	D>N		No	ClinGen gnomAD
rs779090040 CA5671879	118	E>*		No	ClinGen ExAC gnomAD
rs754834358 CA5671878	118	E>A		No	ClinGen ExAC gnomAD
CA5671877 rs753599183	118	E>D		No	ClinGen ExAC gnomAD
CA212338812 rs779090040	118	E>K		No	ClinGen ExAC gnomAD
COSM914318 rs199872878 COSM914319 CA5671859	121	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA5671858 rs370275744	121	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA377967174 rs1213287098	122	L>P		No	ClinGen gnomAD
rs750269866 CA5671856	123	I>V		No	ClinGen ExAC TOPMed gnomAD
rs773998619 CA212337627	125	L>F		No	ClinGen ExAC TOPMed gnomAD
rs773998619 CA5671855	125	L>V		No	ClinGen ExAC TOPMed gnomAD
rs761300554 CA5671854	127	E>G		No	ClinGen ExAC
CA377967102 rs1275249360	129	T>I		No	ClinGen gnomAD
CA5671852 rs752613513	130	P>T		No	ClinGen ExAC gnomAD
CA5671851 rs763890537	132	I>L		No	ClinGen ExAC TOPMed gnomAD
CA377967038 rs1322542794	135	S>C		No	ClinGen gnomAD
CA377967036 rs1322542794	135	S>F		No	ClinGen gnomAD
rs767484912 CA212337569	138	K>R		No	ClinGen Ensembl
rs371197801 CA5671849	139	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA212337558 rs914903407	142	I>M		No	ClinGen TOPMed
rs761083408 CA5671848	144	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1471915280 CA377966938	144	A>T		No	ClinGen gnomAD
CA5671847 rs761083408	144	A>V		No	ClinGen ExAC TOPMed gnomAD
CA377966930 rs1192155840	145	T>A		No	ClinGen TOPMed gnomAD
rs1479242850 CA377966924	145	T>S		No	ClinGen gnomAD
CA212337546 rs990570259	147	I>V		No	ClinGen Ensembl
CA212337544 rs959131615	150	C>Y		No	ClinGen Ensembl
rs772600171 CA5671845	151	L>F		No	ClinGen ExAC gnomAD
rs1034511347 CA212337542	152	H>Y		No	ClinGen Ensembl
rs1316303167 CA377966843	153	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5671844 rs748276554	153	T>S		No	ClinGen ExAC gnomAD
rs1401613808 CA377966808	156	K>R		No	ClinGen gnomAD
CA377966800 rs1170556288	157	S>N		No	ClinGen gnomAD
rs201230559 CA5671832	159	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1310345075 COSM3382654 CA377966780 COSM3382655	160	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs760985653 CA5671830	162	H>R		No	ClinGen ExAC gnomAD
CA377966759 rs1592080184	163	F>V		No	ClinGen Ensembl
TCGA novel	164	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5671828 rs767929883	165	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA5671827 rs139995358	166	S>G		No	ClinGen ESP ExAC gnomAD
CA5671826 rs145936308	166	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1227101285 CA377966706	167	N>S		No	ClinGen TOPMed
rs1003312693 CA212337403	168	R>K		No	ClinGen TOPMed
rs1450849548 CA377966669	171	K>Q		No	ClinGen gnomAD
CA377966622 rs1173407052	174	I>T		No	ClinGen TOPMed gnomAD
rs200230704 CA5671821	185	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs200230704 CA5671822 COSM2154707 COSM2154706	185	I>V	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1166728009 CA377966246	188	D>V		No	ClinGen TOPMed
CA5671797 rs747633467 COSM1675527	189	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA377966241 rs1416733158	189	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs778444995 CA5671796	190	Q>*		No	ClinGen ExAC gnomAD
CA377966234 rs1232097038	190	Q>H		No	ClinGen TOPMed gnomAD
rs754589710 CA5671795	194	I>M		No	ClinGen ExAC gnomAD
rs200564910 CA212336430	194	I>V		No	ClinGen gnomAD
CA5671794 rs753473267	195	V>A		No	ClinGen ExAC gnomAD
CA377966163 rs1393899480	201	N>H		No	ClinGen gnomAD
rs375269864 CA5671791	202	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	203	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377966147 rs1458785381	203	E>G		No	ClinGen gnomAD
CA377966142 rs1361929706	204	E>K		No	ClinGen TOPMed gnomAD
rs1379200610 CA377966112	206	E>G		No	ClinGen gnomAD
rs142360344 CA5671778	207	K>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	208	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377966087 rs1189956579	209	Q>H		No	ClinGen gnomAD
rs1191634987 CA377966084	210	M>V		No	ClinGen TOPMed
TCGA novel	211	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778299421 CA5671777	214	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA377966045 rs1260396663	215	K>*		No	ClinGen gnomAD
rs1205112145	217	R>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs748743394 CA377966003	221	V>I		No	ClinGen ExAC TOPMed gnomAD
CA377966002 rs748743394 CA5671775	221	V>L		No	ClinGen ExAC TOPMed gnomAD
CA212336273 rs766035234	222	P>R		No	ClinGen Ensembl
CA377965998 rs1232468909	222	P>S		No	ClinGen gnomAD
CA377965956 rs1337637382	225	A>V		No	ClinGen gnomAD
rs774413592 CA5671760	226	V>A		No	ClinGen ExAC gnomAD
CA377965943 rs1245526172	227	P>S		No	ClinGen gnomAD
rs768449004 CA5671759	228	Q>*		No	ClinGen ExAC gnomAD
CA377965925 rs1311053951	228	Q>H		No	ClinGen gnomAD
CA5671758 rs748879383	229	P>A		No	ClinGen ExAC gnomAD
CA377965917 rs1370990713	229	P>R		No	ClinGen gnomAD
CA212334756 rs961290098	231	P>T		No	ClinGen Ensembl
CA5671757 rs376321728	233	S>C		No	ClinGen ESP ExAC gnomAD
CA377965878 rs1254819398	233	S>N		No	ClinGen TOPMed
rs1407888490 CA377965848	236	R>G		No	ClinGen gnomAD
rs769470053 CA5671756	236	R>S		No	ClinGen ExAC TOPMed gnomAD
rs372664700 CA5671755	237	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376061462 CA377965814	239	K>E		No	ClinGen TOPMed
rs1473524515 CA377965812	239	K>R		No	ClinGen gnomAD
rs35956583	240	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212334734 rs962689338	242	E>Q		No	ClinGen Ensembl
rs758860265 CA5671753	244	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1475156309 CA377965698	246	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs137910892 CA5671752	246	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377965691 rs137910892	246	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377965677 rs1207018309	247	I>T		No	ClinGen gnomAD
rs149394518 CA5671750	249	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs369977135 CA5671748	250	E>K		No	ClinGen ESP ExAC gnomAD
rs756417949 CA5671747	251	L>F		No	ClinGen ExAC TOPMed
CA377965597 rs756417949	251	L>V		No	ClinGen ExAC TOPMed
CA5671746 rs372984226	252	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386769504 CA377965581	252	D>G		No	ClinGen TOPMed
rs1229099067 CA377965558	253	M>T		No	ClinGen TOPMed
CA5671745 rs767629086	253	M>V		No	ClinGen ExAC TOPMed gnomAD
rs138884621 CA5671744	260	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs764115744 CA5671742	260	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5671743 rs773997289	260	I>T		No	ClinGen ExAC gnomAD
rs1564731376 CA377963265	262	A>T		No	ClinGen Ensembl
CA5671724 rs781528375	266	T>M		No	ClinGen ExAC TOPMed gnomAD
rs867176150 CA212329582	266	T>P		No	ClinGen Ensembl
rs751404603 CA5671722	268	H>R		No	ClinGen ExAC TOPMed gnomAD
rs781093373 CA5671700	271	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751677395 CA5671698	273	E>K		No	ClinGen ExAC gnomAD
rs1173287428 CA377989278	274	K>E		No	ClinGen gnomAD
CA5671697 rs778046845 COSM683492 COSM683493	274	K>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA377989256 rs1392642412	277	V>I		No	ClinGen TOPMed
CA5671696 rs758260563	278	R>*		No	ClinGen ExAC TOPMed gnomAD
CA377989250 rs758260563	278	R>G		No	ClinGen ExAC TOPMed gnomAD
rs752463812 CA377989248	278	R>L		No	ClinGen ExAC gnomAD
rs752463812 CA5671695	278	R>Q		No	ClinGen ExAC gnomAD
rs545021529 CA5671693	283	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1358881533 CA377989195	287	H>R		No	ClinGen gnomAD
rs761497338 CA212372800	287	H>Y		No	ClinGen TOPMed gnomAD
CA377989180 rs1389278956	289	E>G		No	ClinGen TOPMed
CA377989184 rs1592064615	289	E>K		No	ClinGen Ensembl
rs765746959 CA5671691	291	F>L		No	ClinGen ExAC gnomAD
CA377989145 rs1308852871	294	R>T		No	ClinGen gnomAD
rs760218812 CA5671690	296	M>L		No	ClinGen ExAC gnomAD
rs1051280272 CA212372787	297	G>D		No	ClinGen TOPMed gnomAD
rs1051280272 CA212372786	297	G>V		No	ClinGen TOPMed gnomAD
CA377989102 rs1294507348	300	P>L		No	ClinGen gnomAD
rs1379243938 CA377989105	300	P>T		No	ClinGen gnomAD
rs1052389185 CA212372780	303	Q>L		No	ClinGen TOPMed gnomAD
rs1052389185 CA377989084	303	Q>P		No	ClinGen TOPMed gnomAD
CA377989083 rs1052389185	303	Q>R		No	ClinGen TOPMed gnomAD
rs1176313227 CA377988205	306	I>L		No	ClinGen TOPMed gnomAD
CA377988203 rs1488573421	306	I>T		No	ClinGen TOPMed gnomAD
CA377988206 rs1176313227	306	I>V		No	ClinGen TOPMed gnomAD
rs971721778 CA212364006	311	H>Q		No	ClinGen TOPMed gnomAD
rs766334588 CA5671669	316	Y>C		No	ClinGen ExAC gnomAD
rs1406127952 CA377988129	317	Q>K		No	ClinGen TOPMed
rs1164349196 CA377988114	319	L>V		No	ClinGen TOPMed
TCGA novel	320	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377988093 rs1333356971	322	I>F		No	ClinGen gnomAD
rs1333356971 CA377988094	322	I>V		No	ClinGen gnomAD
rs1348440593 CA377988087	323	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs755618927 CA5671668	323	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374125579 CA5671667	324	R>H		No	ClinGen ESP ExAC gnomAD
CA5671666 rs767300911	325	A>V		No	ClinGen ExAC gnomAD
rs761519604 CA5671665	326	I>V		No	ClinGen ExAC TOPMed gnomAD
CA377988051 rs1371913248	329	A>G		No	ClinGen gnomAD
rs776004397 CA5671664	329	A>S		No	ClinGen ExAC gnomAD
CA377988023 rs1592056885	331	M>I		No	ClinGen Ensembl
CA5671663 rs765641622	331	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1438872213 CA377988015	332	Q>R		No	ClinGen gnomAD
rs772195361 CA5671640	339	H>R		No	ClinGen ExAC gnomAD
rs1194647592 CA377985369	339	H>Y		No	ClinGen gnomAD
CA5671638 rs191466012	341	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5671637 rs768900276	344	V>F		No	ClinGen ExAC gnomAD
TCGA novel	345	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377985275 rs1282882154	346	P>S		No	ClinGen gnomAD
CA212357111 rs1046809885	349	I>V		No	ClinGen TOPMed gnomAD

No associated diseases with Q9BYE7

3 regional properties for Q9BYE7

Type	Name	Position	InterPro Accession
domain	Zinc finger, RING-type	134 - 173	IPR001841
conserved_site	Zinc finger, RING-type, conserved site	150 - 159	IPR017907
domain	Polycomb group RING finger protein 6, RAWUL	252 - 341	IPR046979

Functions

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

4 GO annotations of cellular component

Name	Definition
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
PcG protein complex	A chromatin-associated multiprotein complex containing Polycomb Group proteins. In Drosophila, Polycomb group proteins are involved in the long-term maintenance of gene repression, and PcG protein complexes associate with Polycomb group response elements (PREs) in target genes to regulate higher-order chromatin structure.
PRC1 complex	A multiprotein complex that mediates monoubiquitination of lysine residues of histone H2A (lysine-118 in Drosophila or lysine-119 in mammals). The complex is required for stable long-term maintenance of transcriptionally repressed states and is involved in chromatin remodeling.

1 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.

4 GO annotations of biological process

Name	Definition
histone H2A-K119 monoubiquitination	The modification of histone H2A by addition of a single ubiquitin group to lysine-119 (H2A- K119) in metazoans, and at the equivalent residue in other organisms.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
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.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A0JN86	PCGF5	Polycomb group RING finger protein 5	Bos taurus (Bovine)	PR
Q2KJ29	PCGF3	Polycomb group RING finger protein 3	Bos taurus (Bovine)	PR
Q3KNV8	PCGF3	Polycomb group RING finger protein 3	Homo sapiens (Human)	PR
Q86SE9	PCGF5	Polycomb group RING finger protein 5	Homo sapiens (Human)	PR
Q8BTQ0	PcgF3	Polycomb group RING finger protein 3	Mus musculus (Mouse)	PR
Q3UK78	Pcgf5	Polycomb group RING finger protein 5	Mus musculus (Mouse)	PR
Q07G17	pcgf3	Polycomb group RING finger protein 3	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q1JPS1	pcgf5b	Polycomb group RING finger protein 5-B	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
B3DK16	pcgf5a	Polycomb group RING finger protein 5-A	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MEGVAVVTAG	SVGAAKTEGA	AALPPPPPVS	PPALTPAPAA	GEEGPAPLSE	TGAPGCSGSR
70	80	90	100	110	120
PPELEPERSL	GRFRGRFEDE	DEELEEEEEL	EEEEEEEEED	MSHFSLRLEG	GRQDSEDEEE
130	140	150	160	170	180
RLINLSELTP	YILCSICKGY	LIDATTITEC	LHTFCKSCIV	RHFYYSNRCP	KCNIVVHQTQ
190	200	210	220	230	240
PLYNIRLDRQ	LQDIVYKLVI	NLEEREKKQM	HDFYKERGLE	VPKPAVPQPV	PSSKGRSKKV
250	260	270	280	290	300
LESVFRIPPE	LDMSLLLEFI	GANEGTGHFK	PLEKKFVRVS	GEATIGHVEK	FLRRKMGLDP
310	320	330	340
ACQVDIICGD	HLLEQYQTLR	EIRRAIGDAA	MQDGLLVLHY	GLVVSPLKIT