AiPD: Autoinhibited Protein Database

Q86YD1

Gene name	PTOV1 (ACID2, PP642, UNQ6127/PRO20092)
Protein name	Prostate tumor-overexpressed gene 1 protein
Names	PTOV-1, Activator interaction domain-containing protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:53635
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-78 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-78 (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 Q86YD1

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86YD1-F1	Predicted				AlphaFoldDB

417 variants for Q86YD1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs755715265 RCV000190203 CA204209	212	K>M	Long QT syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2305377 CA309531659	3	R>G		No	ClinGen Ensembl
CA406925323 rs1335356162	4	P>L		No	ClinGen TOPMed
rs1224899052 CA406925344	6	R>H		No	ClinGen TOPMed
rs563641001 CA309531670	7	A>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs868811720 CA309531672	8	P>S		No	ClinGen TOPMed gnomAD
rs942810985 CA406925398	10	R>L		No	ClinGen TOPMed gnomAD
rs942810985 CA309531674	10	R>P		No	ClinGen TOPMed gnomAD
rs1238386145 CA406925412	11	S>F		No	ClinGen gnomAD
rs1400144485 CA406925405	11	S>P		No	ClinGen TOPMed
rs1400144485 CA406925402	11	S>T		No	ClinGen TOPMed
rs1238386145 CA406925410	11	S>Y		No	ClinGen gnomAD
rs575608015 CA309531675	13	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA9585603 rs113094600	15	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1452783050 CA406925471	17	L>V		No	ClinGen TOPMed
CA406925494 rs1439480072	19	G>D		No	ClinGen TOPMed gnomAD
CA9585604 rs111792310	20	R>H		No	ClinGen ExAC gnomAD
CA406925521 rs1379794257	22	R>H		No	ClinGen TOPMed gnomAD
CA406925524 rs1379794257	22	R>L		No	ClinGen TOPMed gnomAD
CA309531700 rs925656648	24	P>A		No	ClinGen gnomAD
rs1240342690 CA406925546	25	R>Q		No	ClinGen TOPMed gnomAD
CA406925543 rs935663721	25	R>W		No	ClinGen TOPMed gnomAD
CA406925550 rs1600350161	26	P>T		No	ClinGen Ensembl
rs989773452 CA406925586	28	V>L		No	ClinGen TOPMed gnomAD
CA309531705 rs989773452	28	V>M		No	ClinGen TOPMed gnomAD
CA406925615 rs1305020969	31	A>T		No	ClinGen TOPMed
rs1279344234 CA406925628	32	V>I		No	ClinGen gnomAD
CA406925636 rs1327510166	33	R>S		No	ClinGen TOPMed
rs1411674780 CA406925649	34	S>*		No	ClinGen TOPMed gnomAD
rs1411674780 CA406925653	34	S>L		No	ClinGen TOPMed gnomAD
CA406925687 rs1467668416	38	P>A		No	ClinGen TOPMed gnomAD
rs542896699 CA9585605	39	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542896699 CA406925704	39	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406925715 rs1445100433	40	S>I		No	ClinGen TOPMed gnomAD
rs1400203106 CA406925708	40	S>R		No	ClinGen gnomAD
rs1445100433 CA406925713	40	S>T		No	ClinGen TOPMed gnomAD
CA406925722 rs1468120060	41	P>A		No	ClinGen TOPMed gnomAD
rs1468120060 CA406925721	41	P>T		No	ClinGen TOPMed gnomAD
rs1211868002 CA406925739	43	G>C		No	ClinGen TOPMed gnomAD
rs761520719 CA9585607	43	G>D		No	ClinGen ExAC TOPMed gnomAD
CA406925749 rs1459058175	44	P>S		No	ClinGen TOPMed gnomAD
CA309531719 rs1010582026	46	P>A		No	ClinGen TOPMed
CA406925783 rs1363023684	47	P>L		No	ClinGen gnomAD
rs1043823178 CA309531720	50	R>Q		No	ClinGen TOPMed
rs1418094972 CA406925818	51	A>D		No	ClinGen gnomAD
CA406925829 rs1323348230	52	R>H		No	ClinGen gnomAD
rs1401761185 CA406925851	54	A>D		No	ClinGen gnomAD
rs1281945995 CA406925877	57	M>V		No	ClinGen TOPMed gnomAD
rs371913757 CA309534633	58	E>K		No	ClinGen ESP gnomAD
CA9585625 rs761288567	60	A>V		No	ClinGen ExAC gnomAD
rs769431489 CA9585626	61	R>Q		No	ClinGen ExAC gnomAD
CA406926118 rs1337404982	61	R>W		No	ClinGen TOPMed gnomAD
rs1471156701 CA406926159	64	G>E		No	ClinGen TOPMed
CA9585628 CA406926153 rs759939370	64	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs1174707704 CA406926174	65	A>V		No	ClinGen gnomAD
CA9585629 rs768014871	66	L>V		No	ClinGen ExAC gnomAD
CA9585630 rs776045338	69	I>V		No	ClinGen ExAC gnomAD
CA9585632 rs764573893	70	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9585634 rs200987923	71	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1468031198 CA406926250	72	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377218952 CA9585636	74	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9585635 rs757293505	74	P>S		No	ClinGen ExAC gnomAD
CA406926294 rs1600369853	77	T>P		No	ClinGen Ensembl
rs1381824398 CA406926309	78	L>V		No	ClinGen gnomAD
CA9585642 rs200363426	79	G>R		No	ClinGen 1000Genomes ExAC TOPMed
rs747628312 CA9585643	82	A>T		No	ClinGen ExAC gnomAD
CA9585645 rs772950016	83	V>M		No	ClinGen ExAC TOPMed gnomAD
CA406926373 rs1346928269	84	S>N		No	ClinGen gnomAD
rs770745504 CA9585647	85	E>K		No	ClinGen ExAC TOPMed gnomAD
rs370036159 CA9585649	87	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9585648 rs531528682	87	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406926422 rs1455185497	88	L>F		No	ClinGen gnomAD
CA309534672 rs1011867307	90	N>K		No	ClinGen TOPMed gnomAD
rs1022832210 CA309534677	94	A>G		No	ClinGen TOPMed gnomAD
CA309534681 rs375276416	95	W>C		No	ClinGen ESP
rs765282722 CA9585653	96	S>I		No	ClinGen ExAC TOPMed gnomAD
CA9585656 rs549336919	98	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373185339 CA9585659	100	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9585657 rs752114387	100	E>K		No	ClinGen ExAC
CA9585661 rs781144832	103	E>G		No	ClinGen ExAC gnomAD
CA9585662 rs781144832	103	E>V		No	ClinGen ExAC gnomAD
CA9585698 rs770938530 COSM1395348	105	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs774539379 COSM999465 CA9585699	105	R>H	endometrium Variant assessed as Somatic; 4.632e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA406926718 rs752525642	107	P>A		No	ClinGen ExAC gnomAD
CA9585702 rs752525642	107	P>S		No	ClinGen ExAC gnomAD
CA406926740 rs1215787612	108	Y>*		No	ClinGen gnomAD
CA406926736 rs1600371120	108	Y>S		No	ClinGen Ensembl
CA406926750 rs11558837	109	S>C		No	ClinGen gnomAD
rs11558837 CA309534976	109	S>F		No	ClinGen gnomAD
CA406926760 rs1600371165	110	D>V		No	ClinGen Ensembl
CA406926770 rs1489055420	111	S>P		No	ClinGen TOPMed
rs1358023934 CA406926782	112	T>A		No	ClinGen gnomAD
rs1486197564 CA406926799	113	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA406926793 rs1282934288	113	A>T		No	ClinGen TOPMed gnomAD
CA406926800 rs1486197564	113	A>V		No	ClinGen TOPMed gnomAD
CA9585704 COSM1395349 rs764053837	117	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9585703 rs760556849	117	R>W		No	ClinGen ExAC TOPMed gnomAD
CA309534982 rs967370174	118	T>P		No	ClinGen gnomAD
CA309534991 rs946762278	120	P>L		No	ClinGen Ensembl
CA9585705 rs753853560	120	P>S		No	ClinGen ExAC gnomAD
rs140236059 CA9585709	125	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9585710 rs140236059	125	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA309535002 rs748446625	127	Q>E		No	ClinGen ExAC gnomAD
rs748446625 CA9585711	127	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA309535003 rs202190749	127	Q>R		No	ClinGen gnomAD
rs374463962 CA9585714	129	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA406927082 rs1433252756	131	L>P		No	ClinGen TOPMed
rs1279285129 CA406927213	132	E>D		No	ClinGen gnomAD
CA406927222 rs773234830	134	D>H		No	ClinGen ExAC gnomAD
rs773234830 CA9585750	134	D>N		No	ClinGen ExAC gnomAD
CA406927278 rs1273900381	136	W>*		No	ClinGen gnomAD
CA9585751 COSM713365 rs762322759	137	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9585755 rs767214535	141	I>M		No	ClinGen ExAC gnomAD
rs947481911 CA309535129	141	I>T		No	ClinGen TOPMed
TCGA novel	142	M>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406927535 rs1420967306	148	Q>H		No	ClinGen TOPMed
rs1156373193 CA406927530	148	Q>R		No	ClinGen TOPMed
CA9585759 rs746404193	149	L>P		No	ClinGen ExAC gnomAD
rs559381206 CA9585786	151	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406927659 rs1568641258	151	T>N		No	ClinGen Ensembl
rs777620576 CA9585788	153	L>M		No	ClinGen ExAC gnomAD
CA406927721 rs1188535351	154	G>D		No	ClinGen gnomAD
CA309535212 CA9585791 rs148721391	157	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367340526 CA406927765	157	F>V		No	ClinGen gnomAD
CA406927780 rs373985365	158	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9585794 rs774909974	158	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9585793 rs373985365	158	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1385848787 CA406927837	160	S>C		No	ClinGen gnomAD
rs1318564492 CA406927916	163	A>V		No	ClinGen gnomAD
rs750745916 CA9585797	164	Q>E		No	ClinGen ExAC gnomAD
CA406927979 rs1568641455	166	H>P		No	ClinGen Ensembl
CA9585798 rs377732887	166	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA406927983 rs1568641455	166	H>R		No	ClinGen Ensembl
rs1236315410 CA406927977	166	H>Y		No	ClinGen gnomAD
rs1352182096 CA406928044	168	T>I		No	ClinGen TOPMed
rs766955466 CA9585799	169	N>D		No	ClinGen ExAC gnomAD
rs1245629529 CA406928098	171	D>G		No	ClinGen gnomAD
CA309535239 rs752135431	171	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9585800 rs752135431	171	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1400927574 CA406928106	172	C>R		No	ClinGen gnomAD
rs1194745078 CA406928136	173	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs142303278 CA9585803	174	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs142303278 CA9585802	174	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA309535248 rs964874871	175	L>F		No	ClinGen TOPMed
rs371396128 CA309535252	175	L>P		No	ClinGen ESP TOPMed
rs1600374115 CA406928179	176	K>E		No	ClinGen Ensembl
CA406928187 rs1197429608	176	K>R		No	ClinGen TOPMed
CA406928209 rs1453274231	177	G>E		No	ClinGen gnomAD
CA9585806 rs749014490	180	R>C		No	ClinGen ExAC TOPMed gnomAD
CA406928247 rs749014490	180	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9585807 rs757073263	180	R>H		No	ClinGen ExAC gnomAD
rs745781318 CA9585809	182	M>L		No	ClinGen ExAC TOPMed gnomAD
CA406928314 rs1318239362	184	N>S		No	ClinGen TOPMed
rs1369065632 CA406928333	185	G>D		No	ClinGen TOPMed
rs775056936 CA406928325	185	G>R		No	ClinGen ExAC TOPMed gnomAD
rs775056936 CA9585811	185	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1442054679	186	F>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146815646 CA9585850	187	A>V	Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs919854354 CA309536263	193	P>L		No	ClinGen Ensembl
CA406929850 rs1320579738	194	H>Y		No	ClinGen gnomAD
rs1433449007 CA406929865	195	I>F		No	ClinGen gnomAD
CA9585856 rs777571679	196	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9585855 rs769514468	196	S>T		No	ClinGen ExAC TOPMed gnomAD
rs746201627 CA9585858	197	P>L		No	ClinGen ExAC
rs1441601270 CA406929889	197	P>S		No	ClinGen TOPMed
rs1211249976 CA633894992	198	C>*		No	ClinGen gnomAD
rs775971094 CA9585860	198	C>F		No	ClinGen ExAC gnomAD
rs761051424 CA9585861	200	V>A		No	ClinGen ExAC gnomAD
CA9585863 rs776677018	201	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9585864 COSM1263343 rs761892225	201	R>H	pancreas oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9585866 rs750669934	202	V>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA406929922 rs1171682417	203	L>V		No	ClinGen gnomAD
CA406929931 rs1422645024	204	M>T		No	ClinGen gnomAD
CA309536295 rs11558836	205	L>P		No	ClinGen Ensembl
CA406929944 rs1469195906	206	L>P		No	ClinGen TOPMed
CA9585868 rs766057606	207	Y>F		No	ClinGen ExAC gnomAD
CA406929957 rs751439154	208	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751439154 CA9585869	208	S>W		No	ClinGen ExAC TOPMed gnomAD
CA9585872 rs781293124	210	K>E		No	ClinGen ExAC gnomAD
rs1436181017 CA406929967	210	K>R		No	ClinGen gnomAD
CA9585873 rs752186492	211	K>N		No	ClinGen ExAC TOPMed gnomAD
rs777518722 CA406929983 CA9585874 COSM999468	212	K>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9585875 rs748869823	213	I>F		No	ClinGen ExAC gnomAD
rs780273487 CA9585877	213	I>S		No	ClinGen ExAC gnomAD
CA9585876 rs748869823	213	I>V		No	ClinGen ExAC gnomAD
CA9585878 rs201050859	215	M>V		No	ClinGen ExAC gnomAD
CA406930021 rs1452058325	216	G>S		No	ClinGen gnomAD
rs1175082053 CA406930026	216	G>V		No	ClinGen gnomAD
TCGA novel	217	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777156138 CA9585880	217	L>V		No	ClinGen ExAC TOPMed gnomAD
CA9585882 rs769846625	219	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9585884 rs763083351	221	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	223	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412708172 CA406930121	223	S>T		No	ClinGen TOPMed
rs773960890 CA9585886	224	G>S		No	ClinGen ExAC TOPMed gnomAD
rs756168858 CA9585890	226	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763665193 CA9585891	227	S>G		No	ClinGen ExAC TOPMed gnomAD
rs753450818 CA9585892	227	S>T		No	ClinGen ExAC TOPMed gnomAD
COSM1612593 CA9585893 rs756843452	228	A>T	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA309536345 rs375619184	229	I>V		No	ClinGen ESP TOPMed gnomAD
CA9585895 rs538029470	230	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs778639224 CA9585894	230	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9585896 rs755360949	231	Q>L		No	ClinGen ExAC gnomAD
rs781590286 CA9585897	233	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9585899 rs146513307	234	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA406930236 rs1229126795	234	T>I		No	ClinGen TOPMed
CA9585900 rs146513307	234	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250586592 CA406930247	235	T>N		No	ClinGen gnomAD
CA406930256 rs1471378709	236	R>C		No	ClinGen TOPMed gnomAD
rs373434144 CA9585902	236	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs373434144 CA9585901	236	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9585904 rs376529354	237	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA406930285 rs1220182880	238	Q>H		No	ClinGen TOPMed gnomAD
CA9585906 rs767397093	238	Q>P		No	ClinGen ExAC gnomAD
rs779046090 CA9585943	239	A>S		No	ClinGen ExAC gnomAD
rs1389397623 CA406930345	240	V>A		No	ClinGen gnomAD
CA309536616 rs965604131	241	G>E		No	ClinGen Ensembl
rs1319768292 CA406930358	243	G>S		No	ClinGen gnomAD
rs780424516 CA9585946	244	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9585945 rs371827980	244	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9585947 rs746758899	245	V>F		No	ClinGen ExAC gnomAD
CA406930377 rs1445482854	246	N>S		No	ClinGen TOPMed
rs1360573345 CA406930382	247	S>A		No	ClinGen TOPMed
CA309536622 rs909915728	248	G>D		No	ClinGen Ensembl
CA9585950 rs761809145	249	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9585949 rs776333813	249	P>S		No	ClinGen ExAC gnomAD
CA309536628 rs769682090	250	V>I		No	ClinGen ExAC gnomAD
CA9585951 rs769682090	250	V>L		No	ClinGen ExAC gnomAD
CA406930401 rs1208697765	251	Q>E		No	ClinGen gnomAD
CA309536631 rs201040050	251	Q>R		No	ClinGen 1000Genomes TOPMed
CA406930408 rs59595912	252	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9585955 rs765976938	252	I>M		No	ClinGen ExAC TOPMed gnomAD
rs762455119 CA9585953	252	I>S		No	ClinGen ExAC gnomAD
TCGA novel	252	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9585952 rs59595912	252	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150173437 CA9585957	253	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9585959 rs754221729	254	N>D		No	ClinGen ExAC gnomAD
rs757769457 CA9585960	254	N>I		No	ClinGen ExAC TOPMed gnomAD
rs757769457 CA9585961	254	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9585963 rs145444317	255	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1463710925 CA406930425	255	N>S		No	ClinGen TOPMed
rs557409035 CA309536658	256	K>N		No	ClinGen gnomAD
rs1568647200 CA406930437	257	F>V		No	ClinGen Ensembl
TCGA novel	259	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1049167575 CA309536662	261	S>N		No	ClinGen TOPMed
rs1329804751 CA406930473	262	G>D		No	ClinGen TOPMed
CA309536665 rs889238670	263	V>I		No	ClinGen TOPMed gnomAD
CA9585966 rs768831074	264	M>I		No	ClinGen ExAC gnomAD
rs780371346 CA406930481	264	M>L		No	ClinGen ExAC TOPMed gnomAD
CA9585965 rs747204934	264	M>T		No	ClinGen ExAC gnomAD
rs780371346 CA9585964	264	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1322293451 CA406930517	268	E>D		No	ClinGen gnomAD
rs199576785 CA9585968	268	E>G		No	ClinGen ExAC TOPMed gnomAD
rs199576785 CA406930515	268	E>V		No	ClinGen ExAC TOPMed gnomAD
CA406930741 rs1280972566	269	P>L		No	ClinGen gnomAD
rs1280972566 CA406930740	269	P>R		No	ClinGen gnomAD
CA9585999 rs767010560	271	P>L		No	ClinGen ExAC gnomAD
CA309537668 rs148826476	271	P>S		No	ClinGen ESP
CA9586000 rs751595197	273	P>L		No	ClinGen ExAC gnomAD
CA9586001 rs755044555	274	N>D		No	ClinGen ExAC gnomAD
CA406930766 rs755044555	274	N>H		No	ClinGen ExAC gnomAD
CA9586003 rs752842898	274	N>K		No	ClinGen ExAC TOPMed gnomAD
rs767730731 CA9586002	274	N>S		No	ClinGen ExAC gnomAD
CA406930781 rs368050169	276	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9586006 rs368050169	276	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs372624620 CA9586005	276	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9586007 rs777427656	277	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9586009 rs376909194	278	K>E		No	ClinGen ESP ExAC gnomAD
rs771500913 CA9586010	278	K>R		No	ClinGen ExAC gnomAD
CA406930798 rs1313257682	279	R>S		No	ClinGen Ensembl
CA9586011 rs779661768	282	P>L		No	ClinGen ExAC gnomAD
rs901674296 CA309537680	285	V>I		No	ClinGen TOPMed gnomAD
CA309537685 rs773657588	287	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773657588 CA9586014	287	V>M		No	ClinGen ExAC TOPMed gnomAD
rs763418419 CA9586015	288	N>D		No	ClinGen ExAC TOPMed gnomAD
rs763418419 CA406930851	288	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs771524395 CA9586016	289	Q>E		No	ClinGen ExAC gnomAD
CA406930876 COSM1304930 rs1600391547	291	E>D	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	291	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	291	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9586020 rs200629879	292	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9586018 rs760139273	292	I>S		No	ClinGen ExAC gnomAD
rs1372646258 CA406930898	294	R>G		No	ClinGen gnomAD
CA9586048 rs780046219	294	R>K		No	ClinGen ExAC gnomAD
rs754561665 CA9586050	295	T>I		No	ClinGen ExAC gnomAD
CA406930907 rs754561665	295	T>N		No	ClinGen ExAC gnomAD
rs575957865 CA9586052	296	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs12461139 CA9586054	297	Q>H		No	ClinGen ExAC gnomAD
rs755864677 CA9586053	297	Q>R		No	ClinGen ExAC gnomAD
CA406930951 rs1364687351	301	K>N		No	ClinGen TOPMed
CA406930953 rs772389280	302	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1250521287 CA406930972	304	M>I		No	ClinGen gnomAD
rs1205412489 CA406930966	304	M>V		No	ClinGen gnomAD
CA406930976 rs1435540688	305	Q>E		No	ClinGen gnomAD
rs1238586273 CA406930983	306	L>F		No	ClinGen gnomAD
CA406931000 rs1159017736	308	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA406931008 rs1166615331	309	Q>H		No	ClinGen TOPMed
CA406931006 rs1366571853	309	Q>L		No	ClinGen TOPMed
CA309537744 rs745766571	310	Q>*		No	ClinGen Ensembl
rs1394480148 CA406931025	312	L>R		No	ClinGen gnomAD
CA9586099 rs777759150	313	T>I		No	ClinGen ExAC gnomAD
rs769896462 CA9586098	313	T>P		No	ClinGen ExAC gnomAD
rs777759150 CA406931054	313	T>S		No	ClinGen ExAC gnomAD
CA9586100 rs749524747	314	T>A		No	ClinGen ExAC gnomAD
rs1344420207 CA406931061	314	T>S		No	ClinGen gnomAD
CA406931080 rs1238943974	316	V>A		No	ClinGen gnomAD
CA9586103 rs374159356	317	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406931090 rs374159356	317	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765276837 CA309537968	319	F>I		No	ClinGen gnomAD
CA9586106 rs528461388	320	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA406931118 rs775515238	320	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9586107 rs564883419	321	N>D		No	ClinGen ExAC gnomAD
rs753354166 CA9586108	322	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9586110 rs546615363	323	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406931151 rs1459268287	323	R>H		No	ClinGen TOPMed gnomAD
rs546615363 CA309537987	323	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1364575931 CA406931164	325	V>I		No	ClinGen gnomAD
CA309537994 rs571378275	326	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1350566934 CA406931209	327	F>L		No	ClinGen TOPMed gnomAD
CA9586114 rs753221545	328	H>L		No	ClinGen ExAC gnomAD
rs1391365208 CA406931215	328	H>Y		No	ClinGen gnomAD
rs1291416963 CA406931239	330	T>A		No	ClinGen TOPMed gnomAD
rs777899208 CA9586116	330	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1291416963 CA406931240	330	T>P		No	ClinGen TOPMed gnomAD
rs1207550276 CA406931259	331	K>N		No	ClinGen TOPMed gnomAD
rs979852399 CA309538000	331	K>R		No	ClinGen TOPMed gnomAD
rs749343324 CA9586117	332	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1175505476 CA406931281	333	L>P		No	ClinGen TOPMed gnomAD
rs1175505476 CA406931284	333	L>R		No	ClinGen TOPMed gnomAD
rs367791274 CA309538005	334	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9586118 rs771207580	334	E>K		No	ClinGen ExAC gnomAD
CA406931333 rs1170064853	337	K>R		No	ClinGen TOPMed gnomAD
rs148145804 CA9586124	338	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148145804 CA9586123	338	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1381979943 CA406931362	340	C>Y		No	ClinGen gnomAD
rs371169661 CA9586126	341	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA406931372 COSM1395353 rs1417014787	341	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA9586128 rs750055141	343	M>I		No	ClinGen ExAC
rs1205791431 CA406931387	343	M>V		No	ClinGen gnomAD
CA406931417 rs1260762669	345	N>D		No	ClinGen TOPMed
rs367795574 CA9586130	345	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1257775726 CA406931428	346	G>S		No	ClinGen TOPMed gnomAD
CA9586132 rs756588283	347	F>L		No	ClinGen ExAC gnomAD
CA406931583 rs576930133	349	G>C		No	ClinGen ExAC TOPMed gnomAD
rs576930133 CA9586158	349	G>S		No	ClinGen ExAC TOPMed gnomAD
CA406931590 rs1600405200	350	C>Y		No	ClinGen Ensembl
CA9586161 rs780141901 CA406931595	351	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9586160 rs780141901	351	V>M		No	ClinGen ExAC TOPMed gnomAD
CA406931603 rs1213322539	352	H>L		No	ClinGen gnomAD
rs754708401 CA9586162	352	H>Y		No	ClinGen ExAC gnomAD
CA406931615 rs780961582	354	S>A		No	ClinGen gnomAD
CA406931618 rs1490391752	354	S>F		No	ClinGen gnomAD
rs780961582 CA309538758	354	S>P		No	ClinGen gnomAD
CA9586165 rs372052304	358	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9586167 rs748804055	359	C>R		No	ClinGen ExAC gnomAD
CA406931648 rs1568653188	359	C>Y		No	ClinGen Ensembl
CA9586168 rs770581312	360	E>D		No	ClinGen ExAC gnomAD
CA309538770 rs878894160	361	I>M		No	ClinGen gnomAD
rs1483681971 CA406931665	361	I>S		No	ClinGen Ensembl
CA406931661 rs1167300248	361	I>V		No	ClinGen gnomAD
COSM999473 CA9586169 rs773895100	362	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs764330906 COSM1395355 CA9586171	362	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA406931668 rs764330906	362	R>L		No	ClinGen ExAC TOPMed gnomAD
CA406931667 rs764330906	362	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9586170 rs773895100	362	R>S		No	ClinGen ExAC gnomAD
CA9586173 rs141936477	363	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765850303 CA9586174	365	M>L		No	ClinGen ExAC gnomAD
CA9586175 rs750460634	365	M>T		No	ClinGen ExAC gnomAD
CA9586176 rs762966390	367	L>P		No	ClinGen ExAC gnomAD
rs1358783048 CA406931710	369	S>F		No	ClinGen TOPMed
TCGA novel	372	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9586178 rs751700101	373	K>Q		No	ClinGen ExAC gnomAD
CA406931745 rs1468997226	374	I>L		No	ClinGen TOPMed gnomAD
CA9586180 rs780955310	374	I>M		No	ClinGen ExAC gnomAD
CA406931746 rs1468997226	374	I>V		No	ClinGen TOPMed gnomAD
CA406931755 rs1386239633	375	F>V		No	ClinGen gnomAD
rs543904969 CA309538785	376	I>V		No	ClinGen TOPMed
rs371701153 CA309538790	379	I>V		No	ClinGen ESP
rs1335108896 CA406931804	381	H>R		No	ClinGen gnomAD
rs770323153 CA9586185	381	H>Y		No	ClinGen ExAC gnomAD
rs745499878 CA9586187	384	G>S		No	ClinGen ExAC gnomAD
rs541895468 CA9586188	385	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs541895468 CA309538798	385	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA406931849 rs1163832558	386	F>L		No	ClinGen TOPMed gnomAD
rs1244855154 CA406931850	387	V>I		No	ClinGen gnomAD
CA9586191 rs375764009	388	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777077449 CA9586189	388	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1459686938 CA406931866	389	G>D		No	ClinGen gnomAD
CA9586192 rs773835265	389	G>R		No	ClinGen ExAC gnomAD
rs773835265 CA9586193	389	G>S		No	ClinGen ExAC gnomAD
CA309538809 rs948972506	390	I>M		No	ClinGen Ensembl
CA9586196 rs540393991	391	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9586195 rs373786695	391	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377067186 CA9586197 COSM293975	392	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9586198 rs201860050	392	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777590832 CA9586200	394	I>T		No	ClinGen ExAC TOPMed gnomAD
CA9586199 rs755928972	394	I>V		No	ClinGen ExAC TOPMed gnomAD
CA406931920 rs1400804696	396	N>T		No	ClinGen TOPMed
CA309538826 rs970643135	397	Q>H		No	ClinGen TOPMed
rs149362372 CA9586201	398	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406931953 rs1408178177	400	V>A		No	ClinGen gnomAD
rs757282522 CA9586204	401	L>V		No	ClinGen ExAC gnomAD
rs146329609 CA9586205	402	Q>*		No	ClinGen ESP ExAC
rs1406668230 CA406931969	402	Q>H		No	ClinGen TOPMed gnomAD
rs139642114 CA406931973	403	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1395356 rs771781769 CA9586207	403	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs139642114 CA9586206	403	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600406376 CA406931983	404	N>T		No	ClinGen Ensembl
rs1195457234 CA406932022	409	Q>E		No	ClinGen TOPMed
rs1336850040 CA406932035	410	Q>H		No	ClinGen gnomAD
TCGA novel	411	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773780113 CA9586211	412	R>*		No	ClinGen ExAC gnomAD
CA9586213 rs763356063	412	R>P		No	ClinGen ExAC TOPMed gnomAD
rs763356063 CA9586212	412	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA406932232 CA406932230 rs1344319518	414	M>I		No	ClinGen TOPMed gnomAD
rs750344710 CA9586245	415	G>R		No	ClinGen ExAC gnomAD
rs750392317	417	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q86YD1

2 regional properties for Q86YD1

Type	Name	Position	InterPro Accession
domain	Mediator complex, subunit Med25, PTOV domain	90 - 238	IPR021394-1
domain	Mediator complex, subunit Med25, PTOV domain	255 - 399	IPR021394-2

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus Cell membrane Cytoplasm, perinuclear region	Translocates from the cytoplasm to the nucleus at the onset of S-phase (PubMed:12598323) Also localizes to lipid rafts (PubMed:15713644)
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.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VCB1	CG13609	Protein PTOV1 homolog	Drosophila melanogaster (Fruit fly)	PR

10	20	30	40	50	60
MVRPRRAPYR	SGAGGPLGGR	GRPPRPLVVR	AVRSRSWPAS	PRGPQPPRIR	ARSAPPMEGA
70	80	90	100	110	120
RVFGALGPIG	PSSPGLTLGG	LAVSEHRLSN	KLLAWSGVLE	WQEKRRPYSD	STAKLKRTLP
130	140	150	160	170	180
CQAYVNQGEN	LETDQWPQKL	IMQLIPQQLL	TTLGPLFRNS	QLAQFHFTNR	DCDSLKGLCR
190	200	210	220	230	240
IMGNGFAGCM	LFPHISPCEV	RVLMLLYSSK	KKIFMGLIPY	DQSGFVSAIR	QVITTRKQAV
250	260	270	280	290	300
GPGGVNSGPV	QIVNNKFLAW	SGVMEWQEPR	PEPNSRSKRW	LPSHVYVNQG	EILRTEQWPR
310	320	330	340	350	360
KLYMQLIPQQ	LLTTLVPLFR	NSRLVQFHFT	KDLETLKSLC	RIMDNGFAGC	VHFSYKASCE
370	380	390	400	410
IRVLMLLYSS	EKKIFIGLIP	HDQGNFVNGI	RRVIANQQQV	LQRNLEQEQQ	QRGMGG