AiPD: Autoinhibited Protein Database

Q96GQ5

Gene name	RUSF1
Protein name	RUS family member 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64755
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-151 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-151 (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 Q96GQ5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96GQ5-F1	Predicted				AlphaFoldDB

484 variants for Q96GQ5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1006911815 CA280639633	2	A>V		No	ClinGen TOPMed
rs889769812 CA395756287	3	D>E		No	ClinGen TOPMed gnomAD
CA395756294 rs1461733603	3	D>N		No	ClinGen gnomAD
rs1394795763 CA395756279	4	D>E		No	ClinGen TOPMed gnomAD
CA395756286 rs1304055322	4	D>N		No	ClinGen gnomAD
rs1304055322 CA395756284	4	D>Y		No	ClinGen gnomAD
CA280639630 rs529740217	5	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395756275 rs529740217	5	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529740217 CA8031997	5	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395756272 rs1426458521	6	G>C		No	ClinGen gnomAD
rs1477619497 CA395756264	7	L>F		No	ClinGen TOPMed gnomAD
rs142946872 CA8031993	7	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142946872 CA395756268	7	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775142435 CA8031992	8	E>G		No	ClinGen ExAC gnomAD
rs1268969616 CA395756262	8	E>Q		No	ClinGen gnomAD
rs1306701868 CA395756254	9	T>A		No	ClinGen TOPMed
CA395756252 rs1435666487	9	T>I		No	ClinGen TOPMed gnomAD
CA395756250 rs1435666487	9	T>S		No	ClinGen TOPMed gnomAD
rs770892608 COSM1727471 CA8031988	10	P>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770892608 CA8031989	10	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1196200146 CA395756247	10	P>S		No	ClinGen TOPMed gnomAD
rs544477176 CA8031986	12	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA280639614 rs938515035	13	S>A		No	ClinGen TOPMed gnomAD
CA395756231 rs1267730274	13	S>Y		No	ClinGen TOPMed
rs1596633846 CA395756228	14	E>K		No	ClinGen Ensembl
rs769908867 CA8031985	15	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs370598404 CA8031984 CA8031983	15	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA395756218 rs1427478376	15	Q>P		No	ClinGen TOPMed
CA8031982 rs368090505	17	G>S		No	ClinGen ExAC TOPMed gnomAD
CA395756203 rs1410926945	17	G>V		No	ClinGen gnomAD
rs1038844022 CA280639604	20	E>A		No	ClinGen TOPMed
rs750925503 CA8031978	20	E>D		No	ClinGen ExAC gnomAD
rs139355196 CA8031980	20	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs867637490 CA280639575	21	A>V		No	ClinGen Ensembl
rs1192390230 CA395756180	22	R>G		No	ClinGen TOPMed gnomAD
rs1468130805 CA395756177	22	R>P		No	ClinGen gnomAD
CA395756178 rs1468130805	22	R>Q		No	ClinGen gnomAD
CA395756179 rs1192390230	22	R>W		No	ClinGen TOPMed gnomAD
CA395756175 rs1182071393	23	G>S		No	ClinGen gnomAD
CA395756153 rs1324122514	26	A>P		No	ClinGen gnomAD
rs1324122514 CA395756154	26	A>S		No	ClinGen gnomAD
rs760176011 CA8031975	27	A>P		No	ClinGen ExAC gnomAD
CA395756140 rs1279250907	28	A>G		No	ClinGen TOPMed gnomAD
rs752172544 CA8031974	29	D>A		No	ClinGen ExAC gnomAD
rs1596633757 CA395756128	30	G>A		No	ClinGen Ensembl
CA8031972 rs759082711	30	G>W		No	ClinGen ExAC gnomAD
rs914205170 CA395756122	31	S>I		No	ClinGen TOPMed
rs914205170 CA280639552	31	S>N		No	ClinGen TOPMed
CA395756120 rs1178843028	31	S>R		No	ClinGen TOPMed gnomAD
rs1398512136 CA395756118	32	L>V		No	ClinGen gnomAD
CA8031970 rs770839611	34	W>C		No	ClinGen ExAC gnomAD
rs956023286 CA395756097	35	E>K		No	ClinGen TOPMed gnomAD
CA280639544 rs956023286	35	E>Q		No	ClinGen TOPMed gnomAD
CA395756089 rs1408277605	36	V>F		No	ClinGen TOPMed
CA395756091 rs1408277605	36	V>I		No	ClinGen TOPMed
CA280639540 rs565043592	37	G>A		No	ClinGen 1000Genomes gnomAD
rs773213374 CA8031968	37	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1239183072 CA395756078	38	G>D		No	ClinGen TOPMed gnomAD
CA280639537 rs868208995	40	R>C		No	ClinGen Ensembl
CA395756064 rs1315273422	40	R>H		No	ClinGen gnomAD
CA395756062 rs1315273422	40	R>L		No	ClinGen gnomAD
rs1301641536 CA395756061	41	W>G		No	ClinGen TOPMed
rs1241167038 CA395756047	42	W>L		No	ClinGen gnomAD
VAR_036485	43	G>E	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA8031964 rs748206780	44	L>R		No	ClinGen ExAC gnomAD
CA395756036 rs1567401299	44	L>V		No	ClinGen Ensembl
rs1305184925 CA395756025	46	R>G		No	ClinGen gnomAD
CA395756020 rs1429157661	46	R>S		No	ClinGen gnomAD
rs868796674 CA395756016	47	A>D		No	ClinGen gnomAD
rs1344109106 CA395756017	47	A>S		No	ClinGen TOPMed gnomAD
CA395756019 rs1344109106	47	A>T		No	ClinGen TOPMed gnomAD
rs868796674 CA280639517	47	A>V		No	ClinGen gnomAD
TCGA novel	48	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA280639515 rs867748423	49	T>M		No	ClinGen Ensembl
rs181629545 CA8031963	50	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181629545 CA395756001	50	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs942039251 CA280639510	52	P>L		No	ClinGen TOPMed gnomAD
CA395755986 rs1162506701	52	P>S		No	ClinGen gnomAD
rs1485469475 CA395755972	54	G>E		No	ClinGen gnomAD
CA395755975 rs1184710130	54	G>R		No	ClinGen gnomAD
rs1241628291 CA395755968	55	R>*		No	ClinGen gnomAD
rs926617603 CA280639503	57	A>T		No	ClinGen TOPMed
CA395755954 rs1361501946	57	A>V		No	ClinGen TOPMed
CA8031961 rs747209424	58	G>D		No	ClinGen ExAC gnomAD
CA8031960 rs780311559	59	E>*		No	ClinGen ExAC
CA8031959 rs758695588	60	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1489300204 CA395755933	60	V>L		No	ClinGen TOPMed gnomAD
rs1489300204 CA395755936	60	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	62	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395755904 rs1222023285	62	A>V		No	ClinGen gnomAD
CA280639487 rs572430920	64	G>R		No	ClinGen 1000Genomes gnomAD
rs980849820 CA280639485	64	G>V		No	ClinGen TOPMed
rs779344272 CA395755870	65	A>D		No	ClinGen ExAC gnomAD
rs750800627 CA8031958	65	A>P		No	ClinGen ExAC gnomAD
rs750800627 CA395755875	65	A>S		No	ClinGen ExAC gnomAD
CA8031957 rs779344272	65	A>V		No	ClinGen ExAC gnomAD
rs754411326 CA8031955	66	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1302221758 CA395755825	68	P>L		No	ClinGen TOPMed gnomAD
CA395755817 rs1470226487	69	P>L		No	ClinGen TOPMed gnomAD
CA395755806 rs1458035669	70	L>F		No	ClinGen TOPMed gnomAD
CA395755808 rs1458035669	70	L>V		No	ClinGen TOPMed gnomAD
rs369023846 CA8031952	71	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA395755752 rs1420202207	73	L>F		No	ClinGen gnomAD
CA8031950 rs762776316	73	L>P		No	ClinGen ExAC gnomAD
rs1382537140 CA395755744	74	Q>K		No	ClinGen Ensembl
rs375345658 CA395755736	74	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375345658 CA8031949	74	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1222045595 CA395755710	75	A>V		No	ClinGen TOPMed gnomAD
rs761623627 CA8031947	76	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1314295709 CA395755701	76	V>L		No	ClinGen TOPMed
CA280639426 rs776678790	78	L>V		No	ClinGen ExAC gnomAD
CA8031945 rs768604571	79	P>L		No	ClinGen ExAC gnomAD
CA395755660 rs1259330828	79	P>T		No	ClinGen TOPMed gnomAD
CA8031944 rs747096859	80	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs747096859 CA280639424	80	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA8031943 rs775633064	80	Q>R		No	ClinGen ExAC gnomAD
CA395755588 rs1445464210	82	F>L		No	ClinGen TOPMed
rs1215395948 CA395755585	83	P>S		No	ClinGen TOPMed
CA8031942 rs772305446	84	D>E		No	ClinGen ExAC gnomAD
rs1400755149 CA395755509	87	S>G		No	ClinGen gnomAD
CA8031941 rs746193765	87	S>I		No	ClinGen ExAC TOPMed gnomAD
rs746193765 CA395755504	87	S>T		No	ClinGen ExAC TOPMed gnomAD
CA395755491 rs757692141	88	P>A		No	ClinGen ExAC TOPMed gnomAD
rs868017136 CA280639379	88	P>L		No	ClinGen TOPMed gnomAD
CA8031940 rs757692141	88	P>S		No	ClinGen ExAC TOPMed gnomAD
rs757692141 CA8031939	88	P>T		No	ClinGen ExAC TOPMed gnomAD
CA395755477 rs1433809886	89	D>N		No	ClinGen gnomAD
rs1269795032 CA395755444	90	Y>C		No	ClinGen TOPMed gnomAD
rs1269795032 CA395755443	90	Y>F		No	ClinGen TOPMed gnomAD
CA280639378 rs11551247	91	L>S		No	ClinGen Ensembl
rs1480547167 CA395755430	92	P>L		No	ClinGen gnomAD
CA280639377 rs578173883	92	P>S		No	ClinGen Ensembl
rs1160653147 CA395755410	94	Q>R		No	ClinGen TOPMed
CA8031938 rs535473519	95	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA395755331 rs1329013477	98	S>F		No	ClinGen gnomAD
rs1264474798 CA395755295	100	Q>H		No	ClinGen Ensembl
rs1368192783 CA395755200	101	A>T		No	ClinGen TOPMed gnomAD
rs750030779 CA8031915	101	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1259099663 CA395755155	103	A>P		No	ClinGen gnomAD
rs1215315923 CA395755147	103	A>V		No	ClinGen gnomAD
rs1287783837 CA395755134	104	S>F		No	ClinGen gnomAD
CA280639181 rs79618945	104	S>P		No	ClinGen Ensembl
CA395755116 rs1284511089	106	L>F		No	ClinGen TOPMed gnomAD
CA280639178 rs11551246	108	G>S		No	ClinGen gnomAD
rs954492585 CA395755069	109	S>C		No	ClinGen TOPMed
CA280639175 rs954492585	109	S>F		No	ClinGen TOPMed
rs1294731947 CA395755036	111	A>V		No	ClinGen gnomAD
rs1361241714 CA395754998	113	Q>H		No	ClinGen TOPMed gnomAD
CA280639172 rs907289566	114	A>E		No	ClinGen TOPMed gnomAD
CA395754994 rs1596633310	114	A>T		No	ClinGen Ensembl
CA395754982 rs907289566	114	A>V		No	ClinGen TOPMed gnomAD
CA395754949 rs1390496582	116	L>F		No	ClinGen gnomAD
CA395754940 rs760729234	117	L>V		No	ClinGen TOPMed gnomAD
rs756944050 CA8031913	119	I>M		No	ClinGen ExAC gnomAD
rs1336070099 CA395754914	119	I>V		No	ClinGen TOPMed gnomAD
rs993652261 CA280639165	120	G>E		No	ClinGen TOPMed gnomAD
rs753689910 CA8031912	121	V>L		No	ClinGen ExAC gnomAD
rs1450634631 CA395754843	124	A>G		No	ClinGen gnomAD
rs865940418 CA280639153	124	A>T		No	ClinGen gnomAD
rs1211458084 CA395754806	126	A>G		No	ClinGen TOPMed gnomAD
rs1290366459 CA395754816	126	A>T		No	ClinGen gnomAD
rs1211458084 CA395754804	126	A>V		No	ClinGen TOPMed gnomAD
CA8031909 rs775457472	127	T>A		No	ClinGen ExAC TOPMed gnomAD
CA280639121 rs1022792950	128	V>A		No	ClinGen Ensembl
rs767574191 CA8031907	131	A>T		No	ClinGen ExAC gnomAD
rs372237711 CA8031906	132	T>A		No	ClinGen ESP ExAC gnomAD
CA8031905 rs774373642	132	T>M		No	ClinGen ExAC TOPMed gnomAD
rs868657687 CA280639115	135	W>L		No	ClinGen Ensembl
CA8031904 rs771194390	136	L>F		No	ClinGen ExAC TOPMed gnomAD
rs773654551 CA8031902	138	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8031884 rs773353478	140	S>*		No	ClinGen ExAC TOPMed gnomAD
rs757723192 CA280633268	141	T>A		No	ClinGen TOPMed gnomAD
rs367621897 CA8031883	141	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8031882 rs762333489	142	G>D		No	ClinGen ExAC TOPMed gnomAD
CA395752763 rs762333489	142	G>V		No	ClinGen ExAC TOPMed gnomAD
rs777211896 CA8031881	143	M>L		No	ClinGen ExAC TOPMed gnomAD
CA280633248 rs887536709	143	M>T		No	ClinGen TOPMed
rs745330831 CA8031879	145	G>D		No	ClinGen ExAC gnomAD
rs568823698 CA8031880	145	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA395752709 rs1351729920	146	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs550615888 CA8031878	146	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748959041 CA8031875	148	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8031876 rs770398903	148	V>I		No	ClinGen ExAC TOPMed gnomAD
CA395752652 rs1447871180	150	A>P		No	ClinGen gnomAD
CA280633208 rs879559461	150	A>V		No	ClinGen TOPMed
rs1335575934 CA395752610	152	W>*		No	ClinGen TOPMed gnomAD
CA395752567 rs1359560987	154	G>A		No	ClinGen gnomAD
rs1486341191 CA395752577	154	G>R		No	ClinGen TOPMed gnomAD
CA395751778 rs894051173	155	S>I		No	ClinGen TOPMed gnomAD
CA280632405 rs894051173	155	S>N		No	ClinGen TOPMed gnomAD
rs1434601465 CA395751770	156	K>Q		No	ClinGen TOPMed
rs775995595 CA8031841	157	L>P		No	ClinGen ExAC gnomAD
rs767919660 CA8031840	159	C>R		No	ClinGen ExAC gnomAD
rs1034385432 CA280632378	159	C>Y		No	ClinGen TOPMed gnomAD
CA8031839 rs762397516	160	N>K		No	ClinGen ExAC gnomAD
rs1049963645 CA280632369	160	N>S		No	ClinGen TOPMed gnomAD
CA395751649 rs1317802955	162	K>N		No	ClinGen gnomAD
rs369834516 CA8031837	163	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA395751647 rs1171527353	163	Q>K		No	ClinGen TOPMed gnomAD
CA8031838 rs772744099	163	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs772744099 CA395751639	163	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA395751620 rs1190827616	164	W>G		No	ClinGen gnomAD
CA8031809 rs199577128	166	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1439543204 CA395751465	168	A>G		No	ClinGen TOPMed gnomAD
CA280632223 rs990730906	168	A>T		No	ClinGen TOPMed
rs1439543204 CA395751473	168	A>V		No	ClinGen TOPMed gnomAD
CA8031807 rs777999421	171	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1422540197 CA395751375	172	N>D		No	ClinGen gnomAD
rs1200582177 CA395751344	172	N>K		No	ClinGen TOPMed gnomAD
CA280632204 rs959058484	172	N>S		No	ClinGen TOPMed gnomAD
CA8031805 rs753007290	174	V>I		No	ClinGen ExAC TOPMed gnomAD
CA395751256 rs1464713158	176	M>V		No	ClinGen TOPMed
CA395751193 rs781392520	177	F>L		No	ClinGen ExAC gnomAD
CA395751144 rs1354161627	181	M>V		No	ClinGen gnomAD
rs17855405 CA280632172 VAR_031439	185	Y>C		No	ClinGen UniProt Ensembl dbSNP
CA395751015 rs766877388	187	I>N		No	ClinGen ExAC TOPMed gnomAD
CA8031801 rs766877388	187	I>T		No	ClinGen ExAC TOPMed gnomAD
rs752059218 CA8031802	187	I>V		No	ClinGen ExAC gnomAD
CA8031800 rs761256773	188	C>S		No	ClinGen ExAC gnomAD
rs577520003 CA280632145	190	T>A		No	ClinGen 1000Genomes gnomAD
rs577520003 CA395750990	190	T>P		No	ClinGen 1000Genomes gnomAD
CA8031799 rs753311281	191	M>T		No	ClinGen ExAC gnomAD
CA8031798 rs763762291	192	T>I		No	ClinGen ExAC gnomAD
rs375594507 CA8031796	193	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA395750924 rs1269647764	194	S>T		No	ClinGen gnomAD
CA8031795 rs200739085	195	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA395750905 rs200739085	195	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA395750891 rs1596629016	196	S>R		No	ClinGen Ensembl
CA8031794 rs759407511	199	A>V		No	ClinGen ExAC gnomAD
CA280630367 rs137866588	201	C>Y		No	ClinGen ESP TOPMed gnomAD
CA395749534 rs867665278	202	I>M		No	ClinGen TOPMed gnomAD
rs767288644 CA8031775	203	V>M		No	ClinGen ExAC TOPMed gnomAD
rs759352315 CA8031774	204	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1324570063 CA395749521	205	V>F		No	ClinGen gnomAD
rs1324570063 CA395749520	205	V>I		No	ClinGen gnomAD
CA280630333 rs370405521	206	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8031773 rs370405521	206	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8031772 rs766313412	207	G>D		No	ClinGen ExAC gnomAD
rs773262490 CA8031770	208	G>R		No	ClinGen ExAC gnomAD
CA8031769 rs769762205	209	A>V		No	ClinGen ExAC gnomAD
rs748266246 CA8031768	210	T>I		No	ClinGen ExAC gnomAD
CA395749490 rs145256626	211	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145256626 CA8031766	211	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8031767 rs776777390	211	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	212	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456266880 CA395749481	213	A>S		No	ClinGen gnomAD
COSM3782950 CA395749477 rs1451015824	213	A>V	Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs202098644 CA280630277	214	L>R		No	ClinGen 1000Genomes
CA8031765 rs747334095	215	T>I		No	ClinGen ExAC gnomAD
rs185844277 COSM970312 CA8031762	216	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA395749458 rs1198976861	217	H>R		No	ClinGen gnomAD
CA395749450 rs1304416404	218	Q>R		No	ClinGen gnomAD
rs1354642120 CA395749446	219	A>T		No	ClinGen TOPMed
CA8031760 rs368993746	220	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs779477336 CA8031761	220	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1309180366 CA395749435	221	R>K		No	ClinGen gnomAD
rs1448095090 CA395749432	221	R>S		No	ClinGen gnomAD
rs1355798428 CA395749423	222	N>K		No	ClinGen gnomAD
rs1331578556 CA395749421	223	N>D		No	ClinGen gnomAD
rs752271166 CA8031759	224	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	225	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767235565 CA8031758	226	D>G		No	ClinGen ExAC TOPMed gnomAD
rs762876231 CA8031754	227	V>A		No	ClinGen ExAC gnomAD
rs766266663 CA8031756	227	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8031755 rs766266663 COSM2918465	227	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8031753 rs376859825	229	A>G		No	ClinGen ESP ExAC gnomAD
CA8031751 rs373103057	232	S>C		No	ClinGen ESP ExAC gnomAD
TCGA novel	232	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213716403 CA395749342	234	Q>H		No	ClinGen TOPMed
CA8031738 rs780823103	235	E>K		No	ClinGen ExAC gnomAD
COSM4151319 CA8031737 rs567526942	236	T>M	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA395747484 rs1164013262	237	L>Q		No	ClinGen gnomAD
CA8031734 rs779764069 COSM185336	241	A>V	large_intestine Variant assessed as Somatic; 4.637e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA395747396 rs1187263419	242	G>E		No	ClinGen gnomAD
rs1487061007 CA395747289	246	S>T		No	ClinGen gnomAD
rs750256741 CA8031732	249	M>I		No	ClinGen ExAC gnomAD
rs1469335110 CA395747151	251	P>A		No	ClinGen gnomAD
rs765048072 CA8031731	252	L>V		No	ClinGen ExAC gnomAD
rs143200950 CA8031730	253	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA395747089 rs143200950	253	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	254	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200058567 CA280628154	255	G>A		No	ClinGen 1000Genomes gnomAD
rs200058567 CA395747024	255	G>D		No	ClinGen 1000Genomes gnomAD
CA8031729 rs200759466	257	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA280628143 rs568158745	258	G>C		No	ClinGen gnomAD
rs568158745 CA395746978	258	G>R		No	ClinGen gnomAD
rs764153592 CA8031728	258	G>V		No	ClinGen ExAC gnomAD
CA8031706 rs767530944	259	F>S		No	ClinGen ExAC gnomAD
CA395746856 rs1177341140	260	S>G		No	ClinGen gnomAD
rs188888421 CA395746819	262	G>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8031705 rs188888421	262	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395746810 rs1251833372	263	C>Y		No	ClinGen gnomAD
TCGA novel	267	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8031704 rs774491107	267	L>R		No	ClinGen ExAC gnomAD
rs1014335931 CA280627988	268	T>A		No	ClinGen TOPMed
CA8031702 rs376015632	268	T>I		No	ClinGen ESP ExAC gnomAD
CA280627981 rs376015632	268	T>S		No	ClinGen ESP ExAC gnomAD
rs149082017 CA8031701	272	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA395746744 rs1239121483	273	Y>F		No	ClinGen gnomAD
CA8031699 rs775036191	274	A>S		No	ClinGen ExAC TOPMed gnomAD
rs775036191 CA8031698	274	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA395746733 rs1253685159	275	N>S		No	ClinGen TOPMed
CA8031696 rs745521117	276	Y>C		No	ClinGen ExAC gnomAD
rs771531360 CA8031697	276	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA8031695 rs778434418	277	R>C		No	ClinGen ExAC gnomAD
CA8031694 rs780030782	277	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749101596 CA8031693	278	A>T		No	ClinGen ExAC TOPMed gnomAD
rs777646080 CA8031692	278	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767617953 CA8031689	279	V>D		No	ClinGen ExAC gnomAD
CA8031687 rs140148514	280	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8031686 rs766725561	280	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs367769107 CA280627886	281	A>V		No	ClinGen Ensembl
CA280627865 rs937784402	283	V>F		No	ClinGen TOPMed
CA8031683 rs765739437	284	M>T		No	ClinGen ExAC gnomAD
rs773747322 CA8031684	284	M>V		No	ClinGen ExAC gnomAD
CA395746680 rs1469383424	285	E>V		No	ClinGen TOPMed
rs370067641 CA8031680	288	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs745382201 CA280627828	289	E>*		No	ClinGen ExAC TOPMed gnomAD
CA8031679 rs745382201	289	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8031677 rs770600633	291	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8031678 rs774004857	291	R>W		No	ClinGen ExAC gnomAD
CA8031674 rs144693696	293	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144693696 CA8031673	293	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201744362 CA8031675	293	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs966832546 CA280627799	296	L>P		No	ClinGen TOPMed
CA8031672 rs780999332	296	L>V		No	ClinGen ExAC gnomAD
CA8031671 rs767747052	297	K>R		No	ClinGen ExAC TOPMed gnomAD
CA395746534 rs1291166165	298	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA395746550 rs1386047902	298	H>Y		No	ClinGen gnomAD
CA8031670 rs751616101	299	Y>C		No	ClinGen ExAC gnomAD
rs1203742950 CA395746527	299	Y>H		No	ClinGen TOPMed
CA395746458 rs1417736829	302	R>S		No	ClinGen TOPMed gnomAD
CA280627774 rs911543964	303	G>E		No	ClinGen gnomAD
rs911543964 CA395746442	303	G>V		No	ClinGen gnomAD
rs140821493 CA8031669	304	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1596625820 CA395746418	305	V>G		No	ClinGen Ensembl
rs1447374564 CA395746415	306	L>F		No	ClinGen TOPMed gnomAD
CA395746411 rs1194463826	306	L>P		No	ClinGen TOPMed
CA395746416 rs1447374564	306	L>V		No	ClinGen TOPMed gnomAD
rs765686337 CA8031665	307	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs114108939 CA8031664	309	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs975954990 CA280627698	312	N>D		No	ClinGen TOPMed
CA395746295 rs1255724670	312	N>S		No	ClinGen gnomAD
CA8031663 rs560262294	313	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8031662 rs34309878	313	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395746280 rs560262294	313	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759045764 TCGA novel CA8031661	314	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs1226899020 CA395746256	314	M>T		No	ClinGen TOPMed gnomAD
rs1276549840 CA395746265	314	M>V		No	ClinGen gnomAD
rs997215001 CA280627674	316	P>L		No	ClinGen TOPMed gnomAD
CA395746203 rs997215001	316	P>Q		No	ClinGen TOPMed gnomAD
CA395746148 rs1327155358	320	G>S		No	ClinGen TOPMed gnomAD
CA8031639 rs762451081	320	G>V		No	ClinGen ExAC gnomAD
CA395746112 rs1342891850	321	F>S		No	ClinGen TOPMed
CA395746088 rs1437792960	322	W>*		No	ClinGen TOPMed gnomAD
CA8031638 rs772797077	325	P>L		No	ClinGen ExAC TOPMed gnomAD
CA395746002 rs772797077	325	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA395746006 rs1232212012	325	P>S		No	ClinGen gnomAD
rs1567395182 CA395745954	327	L>V		No	ClinGen Ensembl
rs1275380960 CA395745926	328	S>F		No	ClinGen gnomAD
rs763479578 CA395745880	331	V>F		No	ClinGen ExAC gnomAD
rs763479578 CA8031635	331	V>L		No	ClinGen ExAC gnomAD
CA395745812 rs1349226551	334	H>R		No	ClinGen gnomAD
CA8031632 rs746907893	335	R>C		No	ClinGen ExAC TOPMed
rs780209275 CA8031631	335	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8031630 rs772213183	336	L>M		No	ClinGen ExAC gnomAD
CA395745699 rs1331809636	337	V>I		No	ClinGen gnomAD
rs1413737463 CA395745676	338	S>F		No	ClinGen gnomAD
rs1375642113 CA395745671	339	S>G		No	ClinGen gnomAD
rs1294485551 CA395745425	341	F>L		No	ClinGen TOPMed
CA8031579 rs747512069	341	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1567394904 CA395745384	343	L>Q		No	ClinGen Ensembl
CA395745367 rs1473933646	344	Q>*		No	ClinGen gnomAD
TCGA novel	345	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377331519 CA8031578	345	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA280627090 rs890340333	346	L>P		No	ClinGen TOPMed
rs756665939 CA8031577	346	L>V		No	ClinGen ExAC gnomAD
CA8031576 rs753411992	347	V>I		No	ClinGen ExAC gnomAD
CA395745248 rs1204296390	348	E>D		No	ClinGen gnomAD
rs763551925 CA8031575	348	E>K		No	ClinGen ExAC gnomAD
CA280627057 rs373527322	350	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs755805117 CA8031572	350	H>Y		No	ClinGen ExAC gnomAD
CA8031570 rs552746786	351	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1596625290 CA395745144	352	E>A		No	ClinGen Ensembl
rs1332685648 CA395745127	353	S>T		No	ClinGen gnomAD
rs759405328 CA8031569	355	L>F		No	ClinGen ExAC gnomAD
CA395745067 rs759405328	355	L>V		No	ClinGen ExAC gnomAD
CA280627046 rs375879286	356	L>F		No	ClinGen Ensembl
CA395745051 rs1567394859	356	L>P		No	ClinGen Ensembl
rs1190452278 CA395745032	358	W>G		No	ClinGen TOPMed
rs139919272 CA8031566	361	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386389694 CA395744963	362	Q>R		No	ClinGen gnomAD
CA395743581 rs1253528298	364	Q>*		No	ClinGen gnomAD
CA395743557 rs1199748336	365	V>L		No	ClinGen gnomAD
rs1453399887 CA395743538	366	Q>L		No	ClinGen TOPMed gnomAD
CA8031542 rs768889568	369	L>V		No	ClinGen ExAC TOPMed gnomAD
CA280626524 rs1001041350	371	Q>*		No	ClinGen TOPMed gnomAD
CA395743450 rs1450160227	371	Q>R		No	ClinGen TOPMed
rs775899419 CA8031540	372	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8031539 rs199591213	373	A>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	374	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8031537 rs779566850	375	P>L		No	ClinGen ExAC gnomAD
CA8031538 rs779566850	375	P>R		No	ClinGen ExAC gnomAD
rs1224551392 CA395743369	376	K>E		No	ClinGen TOPMed
CA8031535 rs747680425	376	K>R		No	ClinGen ExAC gnomAD
rs200532493 CA8031534	377	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA280626453 rs150898487	378	I>T		No	ClinGen ESP
CA8031533 rs754631368	378	I>V		No	ClinGen ExAC gnomAD
rs1306354510 CA395743312	379	L>I		No	ClinGen gnomAD
COSM970310 CA8031529 rs866827880	382	A>T	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8031528 rs567097548	384	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs745848158 CA280626397	385	G>R		No	ClinGen TOPMed gnomAD
CA8031527 rs779888912	390	A>D		No	ClinGen ExAC TOPMed
CA395743109 rs779888912	390	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1174185832 CA395743086	392	Q>*		No	ClinGen gnomAD
rs1479059783 CA395743057	393	G>A		No	ClinGen gnomAD
CA395743068 rs1441311936	393	G>R		No	ClinGen gnomAD
CA8031525 rs142474905	395	G>R		No	ClinGen ESP ExAC gnomAD
CA395743014 rs1483530928	395	G>V		No	ClinGen gnomAD
CA280626393 rs765174372	396	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8031524 rs765174372	396	P>T		No	ClinGen ExAC TOPMed gnomAD
CA395742988 rs1470275658	397	L>F		No	ClinGen TOPMed
rs757279712 CA8031523	397	L>P		No	ClinGen ExAC gnomAD
rs1485509876 CA395742973	398	P>L		No	ClinGen TOPMed gnomAD
CA395742924 rs1299610824	400	E>D		No	ClinGen TOPMed
CA395742893 rs1221391277	402	E>G		No	ClinGen gnomAD
rs144347942 CA8031521	403	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA395742879 rs144347942	403	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs142405964 CA8031520	403	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA395742854 rs1228452370	404	L>P		No	ClinGen gnomAD
rs150175927 CA8031516	407	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150175927 CA8031515	407	R>Q	Variant assessed as Somatic; 0.000465 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8031517 rs759828412	407	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8031513 rs367549185	408	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8031514 rs367549185	408	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8031511 rs746673665	409	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM970308 CA8031512 rs36062238	409	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA395742732 rs1284075995	410	A>E		No	ClinGen TOPMed
CA395742737 rs1472956643	410	A>T		No	ClinGen gnomAD
rs377738447 CA8031489	414	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs745561054 CA8031487	415	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778664674 CA8031486	417	W>C		No	ClinGen ExAC gnomAD
CA8031485 rs757109785	418	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8031483 rs757370366	419	V>F		No	ClinGen ExAC TOPMed gnomAD
CA8031482 rs757370366	419	V>I		No	ClinGen ExAC TOPMed gnomAD
rs757370366 CA395742575	419	V>L		No	ClinGen ExAC TOPMed gnomAD
rs571978612 CA8031480	420	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM1324474 rs755226815 CA8031479	421	K>R	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA280626101 rs923142788	422	E>G		No	ClinGen TOPMed
rs138409218 CA8031476	424	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8031478 rs751890287	424	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs764468923 CA280626085	425	E>D		No	ClinGen Ensembl
CA8031475 rs750888933	425	E>K		No	ClinGen ExAC TOPMed gnomAD
rs376267962 CA8031473	427	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA395742373 rs1429297379	428	D>G		No	ClinGen TOPMed
CA8031472 rs758816494	428	D>N		No	ClinGen ExAC gnomAD
CA395742350 rs1567394315	429	M>T		No	ClinGen Ensembl
rs759182188 CA8031470	429	M>V		No	ClinGen ExAC TOPMed gnomAD
rs950386642 CA280626027	431	F>S		No	ClinGen Ensembl
rs773995883 CA8031469	431	F>V		No	ClinGen ExAC gnomAD
CA395742283 rs1201943713	433	K>R		No	ClinGen gnomAD
rs770654113 CA8031468	434	F>L		No	ClinGen ExAC gnomAD
rs748033827 CA8031445	439	Q>R		No	ClinGen ExAC gnomAD
CA395741988 rs1412265426	440	D>E		No	ClinGen gnomAD
rs768799111 CA8031443	442	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1256496677 CA395741946	442	G>V		No	ClinGen gnomAD
CA395741929 rs1484225958	443	W>*		No	ClinGen gnomAD
rs747108558 CA8031442	443	W>*		No	ClinGen ExAC gnomAD
CA8031440 rs758665631	446	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1269031576 CA395741845	447	K>R		No	ClinGen gnomAD
CA8031439 rs746154411	448	H>Q		No	ClinGen ExAC gnomAD
CA395741795 rs1353761394	449	Q>H		No	ClinGen gnomAD
rs779134184 CA8031438	451	E>V		No	ClinGen ExAC gnomAD
CA8031437 rs757642958	453	D>E		No	ClinGen ExAC
rs1287565279 CA395741722	453	D>G		No	ClinGen gnomAD
rs1471840625 CA395741674	455	W>*		No	ClinGen TOPMed
rs1388668148 CA395741654	456	R>K		No	ClinGen gnomAD
TCGA novel	457	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754439663 CA8031434	458	T>I		No	ClinGen ExAC TOPMed gnomAD
rs140895360 CA8031433	460	L>I		No	ClinGen ESP ExAC gnomAD
rs148021848 CA8031431	464	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567393593 CA395741545	464	E>V		No	ClinGen Ensembl
CA8031429 rs146986171	467	V>I		No	ClinGen ESP TOPMed
TCGA novel	469	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q96GQ5

No regional properties for Q96GQ5

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96GQ5

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q91W34	Rusf1	RUS family member 1	Mus musculus (Mouse)	PR
B6IDH3	RUS5	Protein root UVB sensitive 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q84JB8	RUS3	Protein root UVB sensitive 3	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MADDAGLETP	LCSEQFGSGE	ARGCRAAADG	SLQWEVGGWR	WWGLSRAFTV	KPEGRDAGEV
70	80	90	100	110	120
GASGAPSPPL	SGLQAVFLPQ	GFPDSVSPDY	LPYQLWDSVQ	AFASSLSGSL	ATQAVLLGIG
130	140	150	160	170	180
VGNAKATVSA	ATATWLVKDS	TGMLGRIVFA	WWKGSKLDCN	AKQWRLFADI	LNDVAMFLEI
190	200	210	220	230	240
MAPVYPICFT	MTVSTSNLAK	CIVSVAGGAT	RAALTVHQAR	RNNMADVSAK	DSSQETLVNL
250	260	270	280	290	300
AGLLVSLLML	PLVSGCPGFS	LGCFFFLTAL	HIYANYRAVR	ALVMETLNEG	RLRLVLKHYL
310	320	330	340	350	360
QRGEVLDPTA	ANRMEPLWTG	FWPAPSLSLG	VPLHRLVSSV	FELQQLVEGH	QESYLLCWDQ
370	380	390	400	410	420
SQNQVQVVLN	QKAGPKTILR	AATHGLMLGA	LQGDGPLPAE	LEELRNRVRA	GPKKESWVVV
430	440	450	460
KETHEVLDML	FPKFLKGLQD	AGWKTEKHQL	EVDEWRATWL	LSPEKKVL