AiPD: Autoinhibited Protein Database

Q9Y603

Gene name	ETV7 (TEL2, TELB, TREF)
Protein name	Transcription factor ETV7
Names	ETS translocation variant 7 , ETS-related protein Tel2 , Tel-related Ets factor , Transcription factor Tel-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51513
EC number
Protein Class

Descriptions

Etv6 is a transcriptional repressor containing a PNT domain and plays roles in normal cellular processes as well as a variety of human malignancies. The C-terminal inhibitory domain (CID) attenuates the binding of Etv6 by 10-fold, which is achieved by an α-helix H5 in the CID that blocks the DNA binding surface of Etv6. Interestingly, the LID (linker inhibitory damper) of Etv6 interferes with the autoinhibition by CID.

Autoinhibitory domains (AIDs)

315-324 (α-helix in C-terminal inhibitory domain) SS

Target domain	225-305 (ETS domain)
Relief mechanism	Partner binding, Others
Assay

AID

315-324 (α-helix in C-terminal inhibitory domain)

Target domain

225-305 (ETS domain)

Relief mechanism

Partner binding (Binding of RUNX1 to PNT domain), Others (Interaction of LID with CID)

Assay

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

Green SM et al. (2010) "DNA binding by the ETS protein TEL (ETV6) is regulated by autoinhibition and self-association", The Journal of biological chemistry, 285, 18496-504

Coyne HJ 3rd et al. (2012) "Autoinhibition of ETV6 (TEL) DNA binding: appended helices sterically block the ETS domain", Journal of molecular biology, 421, 67-84

Autoinhibited structure

Activated structure

1 structures for Q9Y603

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y603-F1	Predicted				AlphaFoldDB

350 variants for Q9Y603

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA363833688 rs754296011	2	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3779238 rs755426978	2	Q>K		No	ClinGen ExAC gnomAD
rs1402635694 CA363833692	2	Q>P		No	ClinGen TOPMed gnomAD
rs753564528 CA363833326	3	E>*		No	ClinGen ExAC TOPMed gnomAD
rs753564528 CA3779209	3	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	4	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	5	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766102297 CA3779208	6	L>M		No	ClinGen ExAC TOPMed
CA363833282 rs1201340008	7	A>D		No	ClinGen gnomAD
CA3779207 rs760617222	8	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3779206 rs773058641	9	S>C		No	ClinGen ExAC TOPMed gnomAD
rs373602125 CA3779205	10	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA363833223 rs1228644821	13	P>S		No	ClinGen gnomAD
rs1334471880 CA363833211	14	V>E		No	ClinGen gnomAD
rs1334471880 CA363833209	14	V>G		No	ClinGen gnomAD
CA363833206 rs1582230798	15	A>P		No	ClinGen Ensembl
rs774059912 CA3779202	16	A>G		No	ClinGen ExAC gnomAD
rs1402742455 CA363833188	17	M>L		No	ClinGen TOPMed gnomAD
rs1402742455 CA363833186	17	M>V		No	ClinGen TOPMed gnomAD
rs1461599378 CA363833157	19	P>H		No	ClinGen gnomAD
CA363833150 rs1582230725	20	L>P		No	ClinGen Ensembl
COSM1078533 CA3779200 rs374040186	21	G>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs775862560 CA3779199	22	T>I		No	ClinGen ExAC gnomAD
CA363833128 rs1424929557	23	H>N		No	ClinGen gnomAD
CA363833119 rs770076267	23	H>Q		No	ClinGen ExAC gnomAD
CA137401960 rs746344835	24	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746344835 CA3779197	24	V>M		No	ClinGen ExAC TOPMed gnomAD
rs370294288 CA3779194	25	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3779193 rs777836119	26	A>D		No	ClinGen ExAC gnomAD
TCGA novel	26	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758559479 CA3779192	27	R>K		No	ClinGen ExAC TOPMed gnomAD
CA3779191 rs752939916	27	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3779190 rs766162237	30	A>T		No	ClinGen ExAC gnomAD
rs750283680 CA363833000	33	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3779189 rs201107623	33	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1342379702 CA363832983	35	L>M		No	ClinGen TOPMed
CA363832948 rs1312564508	38	G>E		No	ClinGen gnomAD
rs761906206 CA3779186	39	G>V		No	ClinGen ExAC gnomAD
CA3779184 rs763707740	42	K>T		No	ClinGen ExAC TOPMed gnomAD
CA3779182 rs775036706	46	R>I		No	ClinGen ExAC gnomAD
CA3779180 rs746194420	48	R>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	48	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3779156 rs759234011	49	I>T		No	ClinGen ExAC gnomAD
rs1488588091 CA363832361	49	I>V		No	ClinGen gnomAD
CA137397104 rs373164492	51	P>H		No	ClinGen ESP TOPMed
rs1330181043 CA363832347	51	P>T		No	ClinGen TOPMed
CA3779152 rs145194281	52	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1444098 CA3779153 rs145194281	52	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA363832339 rs1274558998	52	A>V		No	ClinGen TOPMed
CA363832325 rs1281483850	54	W>*		No	ClinGen gnomAD
CA363832329 rs1322864720	54	W>*		No	ClinGen gnomAD
rs926792372 CA363831971	57	E>D		No	ClinGen TOPMed gnomAD
CA3779151 rs772621074	57	E>Q		No	ClinGen ExAC gnomAD
CA363831970 rs1318074650	58	D>N		No	ClinGen gnomAD
CA3779149 rs199994235	59	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363831933 rs768692114	60	L>M		No	ClinGen ExAC gnomAD
CA363831931 rs768692114	60	L>V		No	ClinGen ExAC gnomAD
CA363831910 rs1236204414	61	H>N		No	ClinGen TOPMed gnomAD
rs749536650 CA3779147	62	W>*		No	ClinGen ExAC gnomAD
CA363831893 rs1197560390	62	W>*		No	ClinGen gnomAD
CA363831899 rs1197000319	62	W>R		No	ClinGen TOPMed
rs751440343 CA3779145	64	R>C		No	ClinGen ExAC TOPMed gnomAD
rs751440343 CA3779144	64	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3779143 rs150949834	64	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363831858 rs150949834	64	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363831865 rs751440343	64	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1190740744 CA363831845	65	W>*		No	ClinGen gnomAD
CA363831851 rs1372498134	65	W>R		No	ClinGen gnomAD
CA363831832 rs1443973557	66	A>V		No	ClinGen gnomAD
CA137397069 rs976452655	67	E>Q		No	ClinGen TOPMed
CA3779142 rs551548114	69	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs147850067 CA363831789	69	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA363831779 rs1582204150	70	Y>D		No	ClinGen Ensembl
rs148608442 CA137397049	71	S>C		No	ClinGen ESP TOPMed gnomAD
rs148608442 CA137397052	71	S>F		No	ClinGen ESP TOPMed gnomAD
CA3779140 rs144562337	71	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3779139 rs759062456	72	L>P		No	ClinGen ExAC gnomAD
rs1582204089 CA363831704	74	C>R		No	ClinGen Ensembl
rs753558167 CA3779138	75	T>I		No	ClinGen ExAC gnomAD
rs776191639 CA363831663	76	A>G		No	ClinGen TOPMed gnomAD
CA3779136 rs76170782	76	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776191639 CA137397020	76	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	77	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3779134 rs772566025	78	H>L		No	ClinGen ExAC gnomAD
rs1316194641 CA363831643	78	H>Y		No	ClinGen gnomAD
rs772070280 CA3779130	79	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3779132 rs142564424 CA3779131	79	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363831608 rs200406533	80	F>L		No	ClinGen ExAC gnomAD
CA363831628 rs1582203867	80	F>V		No	ClinGen Ensembl
CA3779128 COSM3358019 rs61757380	81	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA363831564 rs1385571676	82	M>I		No	ClinGen TOPMed gnomAD
CA363831569 rs1582203824	82	M>K		No	ClinGen Ensembl
CA3779126 rs115447117	84	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139726679 CA3779125	85	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146389206 CA3779124	85	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146389206 CA363831510	85	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs9394345 VAR_059257 CA3779122	86	A>T		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs753400320 CA3779121	86	A>V		No	ClinGen ExAC TOPMed gnomAD
CA363831450 rs1433763945	88	C>S		No	ClinGen TOPMed
rs200991715 CA3779118	94	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311061042 CA363831280	95	F>L		No	ClinGen gnomAD
CA3779114 rs79496316	96	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3779115 rs79496316	96	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200598175 CA3779116	96	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363831264 rs1208214723	97	H>R		No	ClinGen TOPMed
CA3779113 rs763066171	97	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA3779112 COSM1078529 rs775769716	98	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3779111 rs201419269	98	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376778047 CA3779110	99	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1205755 CA3779109 rs376778047	99	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA363831244 rs1368714585	100	P>H		No	ClinGen TOPMed
CA363831245 rs747934069	100	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3779107 rs747934069	100	P>T		No	ClinGen ExAC TOPMed gnomAD
CA363831237 rs1179133306	101	S>G		No	ClinGen gnomAD
rs1456201036 CA363831226	102	S>L		No	ClinGen TOPMed
rs1301554669 CA363830608	103	G>D		No	ClinGen TOPMed
CA363830578 rs550098555	104	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1356758002 CA363830589	104	D>G		No	ClinGen gnomAD
rs767989439 CA137395883	105	V>I		No	ClinGen TOPMed gnomAD
CA363830543 rs755797611	106	L>P		No	ClinGen TOPMed
rs755797611 CA137395880	106	L>Q		No	ClinGen TOPMed
rs758806440 CA363830491	109	L>V		No	ClinGen ExAC TOPMed gnomAD
rs200395942 CA3779055	117	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755612832 CA3779056	117	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3779053 rs201338282	118	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1305707106 CA363830354	118	R>Q		No	ClinGen TOPMed gnomAD
rs1246517388 CA363830348	119	A>G		No	ClinGen gnomAD
rs750639058 CA3779052	119	A>T		No	ClinGen ExAC gnomAD
CA3779050 rs767764339	122	C>*		No	ClinGen ExAC
rs1314683685 CA363830323	122	C>F		No	ClinGen gnomAD
rs1394544533 CA363830318	123	G>R		No	ClinGen gnomAD
TCGA novel	124	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs865822928 CA363830296	125	F>L		No	ClinGen gnomAD
CA137395842 rs865822928	125	F>V		No	ClinGen gnomAD
CA363830280 rs1461866509	126	F>Y		No	ClinGen gnomAD
CA3779048 rs775318426	127	G>*		No	ClinGen ExAC gnomAD
rs1333048643 CA363830265	127	G>E		No	ClinGen TOPMed
rs902339034 CA137395825	129	I>F		No	ClinGen TOPMed gnomAD
CA363830245 rs1384186263	129	I>T		No	ClinGen gnomAD
CA3779045 rs759396175	132	L>Q		No	ClinGen ExAC gnomAD
rs1316183292 CA363830214	132	L>V		No	ClinGen TOPMed
CA363830200 rs1582196027	134	T>A		No	ClinGen Ensembl
CA3779044 rs776146860	134	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1479610292 CA363830185	136	T>I		No	ClinGen TOPMed gnomAD
CA363830187 rs1479610292	136	T>N		No	ClinGen TOPMed gnomAD
VAR_048952 rs9470262 CA3779041	138	H>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1049508822 CA137395806	139	S>F		No	ClinGen TOPMed gnomAD
rs1358416022 CA363830159	140	P>L		No	ClinGen gnomAD
CA3779038 rs748522885	141	V>A		No	ClinGen ExAC TOPMed gnomAD
rs748522885 CA137395784	141	V>D		No	ClinGen ExAC TOPMed gnomAD
CA363830156 rs1242811476	141	V>F		No	ClinGen TOPMed gnomAD
CA363830158 rs1242811476	141	V>I		No	ClinGen TOPMed gnomAD
rs749784730 CA3779035	143	P>L		No	ClinGen ExAC TOPMed gnomAD
CA363830145 rs749784730	143	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs749784730 CA137395759	143	P>R		No	ClinGen ExAC TOPMed gnomAD
rs756114308 CA363830135 COSM216020	145	E>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756114308 CA3779033	145	E>K		No	ClinGen ExAC TOPMed gnomAD
CA363829883 rs1390563123	146	V>A		No	ClinGen Ensembl
CA363829886 rs1313537655	146	V>L		No	ClinGen TOPMed gnomAD
CA363829889 rs1313537655	146	V>M		No	ClinGen TOPMed gnomAD
CA363829843 rs1224597312	149	P>L		No	ClinGen gnomAD
CA363829846 rs1285297116	149	P>S		No	ClinGen gnomAD
rs747821214 CA3779021	151	Q>*		No	ClinGen ExAC gnomAD
rs1582190500 CA363829824	152	M>R		No	ClinGen Ensembl
CA3779019 rs774810352	153	D>E		No	ClinGen ExAC TOPMed gnomAD
CA137395020 rs960803986	153	D>G		No	ClinGen Ensembl
CA363829814 rs1582190440	154	T>P		No	ClinGen Ensembl
CA3779018 rs200172397	155	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3779017 rs151011956	155	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3779016 rs151011956	155	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs142484516 CA3779015	156	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3779013 rs781252130	157	G>A		No	ClinGen ExAC TOPMed gnomAD
rs781252130 CA3779014	157	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1582190307 CA363829791	158	H>P		No	ClinGen Ensembl
rs774827450 CA137395005	158	H>Y		No	ClinGen TOPMed
CA363829714 rs1428938210	164	D>H		No	ClinGen TOPMed gnomAD
CA363829716 rs1428938210	164	D>N		No	ClinGen TOPMed gnomAD
CA363829694 rs1463722706	165	P>Q		No	ClinGen TOPMed gnomAD
CA363829698 rs1204721903	165	P>T		No	ClinGen gnomAD
CA363829681 rs1265011737	166	G>A		No	ClinGen TOPMed gnomAD
CA363829683 rs1265011737	166	G>E		No	ClinGen TOPMed gnomAD
CA137395001 rs888045970	166	G>R		No	ClinGen TOPMed
rs1323433693 CA363829674	167	L>F		No	ClinGen gnomAD
rs1323433693 CA363829677	167	L>I		No	ClinGen gnomAD
CA3779009 rs527602476	167	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA3779008 rs753724602	168	T>A		No	ClinGen ExAC gnomAD
rs1295327914 CA363829629	170	N>S		No	ClinGen gnomAD
rs545020644 CA3779006	171	F>I		No	ClinGen 1000Genomes ExAC gnomAD
rs545020644 CA3779005	171	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs146070923 CA3779004	172	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs763212200 CA3779001	174	L>M		No	ClinGen ExAC gnomAD
CA363829559 rs1158198554	174	L>P		No	ClinGen TOPMed
CA3779000 rs763212200	174	L>V		No	ClinGen ExAC gnomAD
rs902005882 CA363829500	176	D>E		No	ClinGen TOPMed gnomAD
CA137394988 rs769363544	178	G>S		No	ClinGen Ensembl
rs775987267 CA363829446	180	A>E		No	ClinGen ExAC TOPMed gnomAD
CA363829443 rs775987267	180	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3778999 rs775987267	180	A>V		No	ClinGen ExAC TOPMed gnomAD
rs746386026 CA3778997	182	W>L		No	ClinGen ExAC gnomAD
CA3778996 rs781199147	184	P>S		No	ClinGen ExAC gnomAD
rs1449955866 CA363829401	185	G>D		No	ClinGen TOPMed
TCGA novel	187	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554147092 CA363829374	187	E>D		No	ClinGen Ensembl
CA3778995 rs771029891	187	E>K		No	ClinGen ExAC gnomAD
rs777959160 CA3778993	188	E>D		No	ClinGen ExAC TOPMed
rs747141817 CA3778994	188	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1276618185 CA363829341	191	N>D		No	ClinGen gnomAD
rs1198015968 CA363829285	193	C>*		No	ClinGen gnomAD
rs1251105024 CA363829276	194	H>R		No	ClinGen gnomAD
CA137394973 rs551655795	194	H>Y		No	ClinGen gnomAD
rs758716764 CA3778992	195	C>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	197	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA137394967 rs538189536	199	G>D		No	ClinGen Ensembl
rs34306145 CA3778990 VAR_048953	199	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1219575923 CA363829164	200	C>*		No	ClinGen Ensembl
rs555684593 CA3778989	200	C>F		No	ClinGen 1000Genomes ExAC gnomAD
rs555684593 CA363829170	200	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs143305462 CA363829131	202	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs143305462 CA3778988	202	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs761380926 CA3778986	204	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3778987 rs540780103	204	G>W		No	ClinGen 1000Genomes ExAC gnomAD
rs763647032 CA3778984	205	V>A		No	ClinGen ExAC gnomAD
rs139670741 CA3778985	205	V>F		No	ClinGen ESP ExAC gnomAD
CA363829089 rs763647032	205	V>G		No	ClinGen ExAC gnomAD
CA137394957 rs267601000	207	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1250495259 CA363829041	208	F>L		No	ClinGen TOPMed gnomAD
CA3778982 rs775658553	209	P>L		No	ClinGen ExAC gnomAD
CA363829022 rs1361994015	209	P>S		No	ClinGen gnomAD
CA3778981 rs61730656	210	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3778980 rs759995684	210	A>V		No	ClinGen ExAC TOPMed gnomAD
VAR_020314 rs2234079 CA3778976	212	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3778977 rs2234079	212	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1335073566 CA363828975	212	P>S		No	ClinGen TOPMed gnomAD
rs772128374 CA3778975	213	Q>*		No	ClinGen ExAC gnomAD
CA3778974 rs748427459	214	A>T		No	ClinGen ExAC gnomAD
CA363828948 rs1383039795	214	A>V		No	ClinGen TOPMed
CA363828923 rs1304180052	216	I>M		No	ClinGen TOPMed
rs1001345978 CA137394944	216	I>S		No	ClinGen TOPMed
rs1404980182 CA363828930	216	I>V		No	ClinGen gnomAD
CA137394940 rs1045475179	218	G>C		No	ClinGen TOPMed gnomAD
CA363828902 rs1470574006	218	G>D		No	ClinGen gnomAD
CA363828907 rs1045475179	218	G>R		No	ClinGen TOPMed gnomAD
CA363828905 rs1045475179	218	G>S		No	ClinGen TOPMed gnomAD
CA363828873 rs1582189109	220	I>V		No	ClinGen Ensembl
rs750289065 CA3778970	221	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363828535 rs1363760805	223	C>F		No	ClinGen gnomAD
TCGA novel	223	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746987255 CA3778950	224	R>C		No	ClinGen ExAC TOPMed
rs777105415 CA3778949	224	R>H		No	ClinGen ExAC gnomAD
CA363828506 rs1364826460	227	W>R		No	ClinGen gnomAD
rs1318609453 CA363828484	228	D>A		No	ClinGen gnomAD
CA3778947 rs376442687	228	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3778946 rs764939869	229	Y>C		No	ClinGen ExAC gnomAD
CA3778944 rs754146889	230	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1245863781 CA363828399	236	D>N		No	ClinGen gnomAD
TCGA novel	237	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3778943 RCV000969943 rs138338549	237	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA363828383 rs138338549	237	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3778942 rs761134041	238	R>*		No	ClinGen ExAC TOPMed gnomAD
CA363828376 rs1254929593	238	R>Q		No	ClinGen gnomAD
CA363828365 rs1309192706	239	Y>C		No	ClinGen gnomAD
CA363828351 rs1205797026	240	E>V		No	ClinGen TOPMed
CA3778939 rs761935879	241	P>L		No	ClinGen ExAC gnomAD
CA363828320 rs1341698268	243	I>T		No	ClinGen gnomAD
CA363828263 rs1295729355	248	K>*		No	ClinGen gnomAD
rs940035678 CA137394147	248	K>R		No	ClinGen Ensembl
CA137394143 rs912561867	249	D>A		No	ClinGen Ensembl
rs1383542427 CA363828250	249	D>H		No	ClinGen gnomAD
rs1383542427 CA363828251	249	D>N		No	ClinGen gnomAD
rs2234080 CA363828237	250	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2234080 CA363828236	250	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200738569 CA3778936	250	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
rs2234080 CA3778935 VAR_048954	250	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1356847720 CA363828206	253	F>S		No	ClinGen gnomAD
CA3778934 rs542111073	254	R>*		No	ClinGen ExAC TOPMed gnomAD
rs746819841 CA3778933	254	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs758335292 CA3778931	255	V>A		No	ClinGen ExAC gnomAD
rs1444882871 CA363828175	256	V>A		No	ClinGen gnomAD
rs1444882871 CA363828177	256	V>E		No	ClinGen gnomAD
rs201764978 CA3778930	257	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs932571583 CA137394123	258	P>T		No	ClinGen Ensembl
rs921158136 CA137394120	259	N>D		No	ClinGen gnomAD
rs1233438987 CA363828116	262	A>S		No	ClinGen TOPMed gnomAD
rs1233438987 CA363828119	262	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3778928 rs139154340	263	R>G		No	ClinGen ESP ExAC gnomAD
rs758776240 CA137394110	263	R>K		No	ClinGen Ensembl
rs753523268 CA3778927	264	L>F		No	ClinGen ExAC gnomAD
rs968567682 CA137394102	265	W>*		No	ClinGen TOPMed
TCGA novel	267	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs111384242 CA137394096	268	H>R		No	ClinGen Ensembl
rs868071717 CA137394099	268	H>Y		No	ClinGen Ensembl
CA3778904 rs112097296	271	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3778905 rs112097296	271	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3778906 rs375633742	271	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363827599 rs1485762507	272	V>G		No	ClinGen TOPMed
rs1387760808 CA363827583	274	M>V		No	ClinGen gnomAD
TCGA novel	276	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757731004 CA363827556	276	Y>H		No	ClinGen ExAC gnomAD
CA3778902 rs757731004	276	Y>N		No	ClinGen ExAC gnomAD
rs370083197 CA363827538	277	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs370083197 CA3778900	277	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs752881605 CA3778898	278	K>T		No	ClinGen ExAC gnomAD
rs1434671928 CA363827479	279	M>I		No	ClinGen TOPMed
CA3778897 rs367587700	280	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs201731289 CA3778896	281	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3778894 rs771796962	281	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3778895 rs771796962	281	R>P		No	ClinGen ExAC TOPMed gnomAD
CA137393391 rs982443927	282	A>D		No	ClinGen TOPMed gnomAD
rs1266712650 CA363827455	282	A>S		No	ClinGen gnomAD
rs945221138 CA137393389	283	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs377487547 CA3778892	284	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3778891 rs768642185	284	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1327677713 CA363827404	287	Y>D		No	ClinGen gnomAD
rs779539747 CA3778889	294	K>N		No	ClinGen ExAC
rs1234646162 CA363827286	295	E>D		No	ClinGen gnomAD
COSM3394153 CA3778887 rs745526459	296	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3778888 rs549907754	296	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363827225 rs1365547367	298	Q>R		No	ClinGen gnomAD
TCGA novel	300	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3778885 rs757528138	300	L>I		No	ClinGen ExAC TOPMed gnomAD
CA137393276 rs978863604	305	L>V		No	ClinGen Ensembl
rs1582177385 CA363826985	307	T>P		No	ClinGen Ensembl
CA137393273 rs2234084	308	P>L		No	ClinGen gnomAD
CA363826955 rs2234084	308	P>R		No	ClinGen gnomAD
rs1389356278 CA363826930	309	G>E		No	ClinGen gnomAD
CA363826901 rs1341905660	310	K>R		No	ClinGen gnomAD
rs1447904680 CA363826881	311	M>V		No	ClinGen TOPMed gnomAD
rs1370200112 CA363826836	313	Q>R		No	ClinGen gnomAD
CA3778861 rs748697019	314	D>H		No	ClinGen ExAC gnomAD
CA3778858 rs115265985	321	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3778859 rs115265985	321	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA137393219 rs879114063	323	E>K		No	ClinGen Ensembl
rs867772009 CA137393211	326	E>G		No	ClinGen Ensembl
rs751293696 CA3778855	327	Q>K		No	ClinGen ExAC gnomAD
CA363826574 rs1361235444	328	D>A		No	ClinGen gnomAD
CA137393208 rs796308571	328	D>N		No	ClinGen Ensembl
rs913302301 CA137393204	329	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA363826517 rs1338597949	330	I>R		No	ClinGen TOPMed gnomAD
CA363826519 rs1338597949	330	I>T		No	ClinGen TOPMed gnomAD
CA3778854 rs763895521	330	I>V		No	ClinGen ExAC TOPMed gnomAD
rs762834204 CA363826489	331	E>K		No	ClinGen ExAC gnomAD
CA3778853 rs762834204	331	E>Q		No	ClinGen ExAC gnomAD
CA3778852 rs754585880	332	F>L		No	ClinGen ExAC TOPMed gnomAD
rs765267388 CA3778851	335	K>*		No	ClinGen ExAC gnomAD
rs879229419 CA137393171	335	K>R		No	ClinGen Ensembl
rs1582176920 CA363826284	339	I>V		No	ClinGen Ensembl
rs758954266 CA3778850	340	S>F	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs199834695 CA137393166	340	S>P		No	ClinGen 1000Genomes
COSM3777609 rs145392208 CA3778848	341	P>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs145392208 CA3778849	341	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q9Y603

2 regional properties for Q9Y603

Type	Name	Position	InterPro Accession
domain	Ets domain	223 - 309	IPR000418
domain	Pointed domain	31 - 117	IPR003118

Functions

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

3 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.

4 GO annotations of molecular function

Name	Definition
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription repressor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

5 GO annotations of biological process

Name	Definition
animal organ morphogenesis	Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
cell differentiation	The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
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.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

25 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58DT0	ELF5	ETS-related transcription factor Elf-5	Bos taurus (Bovine)	SS
Q0VC65	ETV6	Transcription factor ETV6	Bos taurus (Bovine)	SS
P41212	ETV6	Transcription factor ETV6	Homo sapiens (Human)	SS
P78545	ELF3	ETS-related transcription factor Elf-3	Homo sapiens (Human)	SS
Q9UKW6	ELF5	ETS-related transcription factor Elf-5	Homo sapiens (Human)	EV
P32519	ELF1	ETS-related transcription factor Elf-1	Homo sapiens (Human)	PR
Q99607	ELF4	ETS-related transcription factor Elf-4	Homo sapiens (Human)	PR
Q06546	GABPA	GA-binding protein alpha chain	Homo sapiens (Human)	SS
O95238	SPDEF	SAM pointed domain-containing Ets transcription factor	Homo sapiens (Human)	PR
P50548	ERF	ETS domain-containing transcription factor ERF	Homo sapiens (Human)	PR
P41162	ETV3	ETS translocation variant 3	Homo sapiens (Human)	PR
P11308	ERG	Transcriptional regulator ERG	Homo sapiens (Human)	EV
P43268	ETV4	ETS translocation variant 4	Homo sapiens (Human)	EV
P41161	ETV5	ETS translocation variant 5	Homo sapiens (Human)	SS
P50549	ETV1	ETS translocation variant 1	Homo sapiens (Human)	EV
P41970	ELK3	ETS domain-containing protein Elk-3	Homo sapiens (Human)	SS
P28324	ELK4	ETS domain-containing protein Elk-4	Homo sapiens (Human)	EV
P19419	ELK1	ETS domain-containing protein Elk-1	Homo sapiens (Human)	EV
P15036	ETS2	Protein C-ets-2	Homo sapiens (Human)	EV
P14921	ETS1	Protein C-ets-1	Homo sapiens (Human)	EV
Q8VDK3	Elf5	ETS-related transcription factor Elf-5	Mus musculus (Mouse)	SS
Q60775	Elf1	ETS-related transcription factor Elf-1	Mus musculus (Mouse)	PR
P97360	Etv6	Transcription factor ETV6	Mus musculus (Mouse)	EV
Q9JHC9	Elf2	ETS-related transcription factor Elf-2	Mus musculus (Mouse)	PR
Q9Z2U4	Elf4	ETS-related transcription factor Elf-4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MQEGELAISP	ISPVAAMPPL	GTHVQARCEA	QINLLGEGGI	CKLPGRLRIQ	PALWSREDVL
70	80	90	100	110	120
HWLRWAEQEY	SLPCTAEHGF	EMNGRALCIL	TKDDFRHRAP	SSGDVLYELL	QYIKTQRRAL
130	140	150	160	170	180
VCGPFFGGIF	RLKTPTQHSP	VPPEEVTGPS	QMDTRRGHLL	QPPDPGLTSN	FGHLDDPGLA
190	200	210	220	230	240
RWTPGKEESL	NLCHCAELGC	RTQGVCSFPA	MPQAPIDGRI	ADCRLLWDYV	YQLLLDTRYE
250	260	270	280	290	300
PYIKWEDKDA	KIFRVVDPNG	LARLWGNHKN	RVNMTYEKMS	RALRHYYKLN	IIKKEPGQKL
310	320	330	340
LFRFLKTPGK	MVQDKHSHLE	PLESQEQDRI	EFKDKRPEIS	P