AiPD: Autoinhibited Protein Database

Q96Q07

Gene name	BTBD9 (KIAA1880)
Protein name	BTB/POZ domain-containing protein 9
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:114781
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

559-612 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

559-612 (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 Q96Q07

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96Q07-F1	Predicted				AlphaFoldDB

409 variants for Q96Q07

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA364347682 rs1456223247	3	N>D		No	ClinGen gnomAD
CA364347665 rs1439069030	5	H>Y		No	ClinGen gnomAD
rs1194211383 CA364347656	6	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA364347659 rs1480427286	6	P>T		No	ClinGen TOPMed
CA3787596 rs372689668	8	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749280771 CA3787595 COSM3076842	8	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA364347639 rs1427668989	9	P>L		No	ClinGen TOPMed
rs780643886 CA3787594	9	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3787592 rs750815428	11	T>I		No	ClinGen ExAC gnomAD
rs758117447 CA3787590	12	A>V		No	ClinGen ExAC gnomAD
rs369202125 CA364347607	15	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3787587 rs759115051	15	E>G		No	ClinGen ExAC gnomAD
rs369202125 CA3787588	15	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA364347601 rs1331137593	16	I>V		No	ClinGen gnomAD
rs766352654 CA3787585	18	H>P		No	ClinGen ExAC gnomAD
CA364347585 rs1384764369	18	H>Y		No	ClinGen gnomAD
rs1294789560 CA364347576	19	V>A		No	ClinGen TOPMed
rs760514311 CA3787584	21	I>V		No	ClinGen ExAC gnomAD
CA3787583 rs773207540	25	H>Y		No	ClinGen ExAC gnomAD
rs372076622 CA3787582	26	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs959128808 CA137705571	26	I>V		No	ClinGen Ensembl
rs762176056 CA3787581	28	A>T		No	ClinGen ExAC TOPMed
CA3787580 rs774736877	28	A>V		No	ClinGen ExAC TOPMed gnomAD
rs768962383 CA3787579	29	L>M		No	ClinGen ExAC gnomAD
CA364347481 rs1294567608	34	E>*		No	ClinGen TOPMed
rs746361812 CA3787575	36	G>D		No	ClinGen ExAC TOPMed gnomAD
COSM1185045 CA3787573 rs757637334	37	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1278375044 CA364347453	38	V>G		No	ClinGen gnomAD
CA3787572 rs201049717	38	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1338107485 CA364347445	39	T>I		No	ClinGen gnomAD
CA137705569 rs1014956513	41	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA364347431 rs1187533082	42	V>M		No	ClinGen TOPMed
rs1419185468 CA364347410 COSM1444190	44	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs372729615 CA3787569	45	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM36793 CA3787568 rs267601008	46	R>C	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs760705861 COSM1444189 CA3787567	46	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1019823107 CA137705567	50	H>L		No	ClinGen TOPMed
TCGA novel	51	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1240765404 CA364347362	52	V>L		No	ClinGen gnomAD
rs1008849498 CA137705566	54	L>S		No	ClinGen TOPMed
rs1161124174 CA364347338	56	A>T		No	ClinGen TOPMed
CA3787565 rs368754471	57	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3787564 rs761732346	58	C>S		No	ClinGen ExAC gnomAD
CA137705565 rs573589326	59	Q>R		No	ClinGen 1000Genomes gnomAD
rs1288076554 CA364347309	60	Y>C		No	ClinGen TOPMed
rs764393519 CA3787562	62	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3787561 rs763075478	62	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1242291148 CA364347016	63	A>G		No	ClinGen gnomAD
rs765455061 CA3787541	66	Y>C		No	ClinGen ExAC gnomAD
rs368310739 CA137705175	70	R>*		No	ClinGen ESP TOPMed gnomAD
rs1018361727 CA137705174	70	R>Q		No	ClinGen TOPMed
rs528291228 CA364346897	73	Q>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA364346892 rs1325723039	74	P>S		No	ClinGen TOPMed gnomAD
CA364346877 rs1406351494	75	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	75	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390517266 CA364346838	78	I>T		No	ClinGen gnomAD
rs762816839 CA137705172	79	P>L		No	ClinGen gnomAD
CA3787540 rs759613231	80	L>F		No	ClinGen ExAC gnomAD
rs776631922 CA3787539	81	Q>R		No	ClinGen ExAC gnomAD
rs1381472054 CA364346794	82	D>G		No	ClinGen gnomAD
rs1468112033 CA364346786	83	T>A		No	ClinGen gnomAD
CA3787537 rs747508263	84	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3787536 rs773664757	87	A>V		No	ClinGen ExAC gnomAD
rs748496788 CA3787534	90	M>I		No	ClinGen ExAC gnomAD
rs1289398827 CA364346714	90	M>V		No	ClinGen gnomAD
CA137705170 rs1007801055	95	I>S		No	ClinGen gnomAD
CA364346653 rs1354331656	95	I>V		No	ClinGen gnomAD
CA364346635 rs1223316400	96	Y>*		No	ClinGen gnomAD
rs755726517 CA3787532	99	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1329713 COSM1329712 CA3787533 rs150015110	99	R>W	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1425906104 CA364346608	100	A>T		No	ClinGen TOPMed
rs1582690324 CA364346600	100	A>V		No	ClinGen Ensembl
rs931971894 CA137705169	101	T>A		No	ClinGen TOPMed
CA3787531 rs546808376	101	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA3787529 rs757334550	103	T>A		No	ClinGen ExAC gnomAD
rs751515823 CA3787528	103	T>I		No	ClinGen ExAC gnomAD
rs764002453 CA3787527	104	D>N		No	ClinGen ExAC gnomAD
CA364346565 rs1392551453	105	E>Q		No	ClinGen TOPMed
CA3787526 rs775409342	106	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	107	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765387766 CA3787524	110	L>R		No	ClinGen ExAC gnomAD
CA364346522 rs1477530506	111	L>P		No	ClinGen gnomAD
rs759738171 CA364346503	114	L>M		No	ClinGen ExAC TOPMed gnomAD
rs753983179 CA3787521	117	A>V		No	ClinGen ExAC gnomAD
CA3787520 rs766414537	118	H>Y		No	ClinGen ExAC gnomAD
CA3787519 rs761218065	119	K>T		No	ClinGen ExAC gnomAD
CA3787517 rs374367877	120	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs867059281 CA137705167	123	P>L		No	ClinGen TOPMed gnomAD
rs774721362 CA3787515	123	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3787514 rs769629568	124	E>K		No	ClinGen ExAC gnomAD
rs745513384 CA3787513	126	E>Q		No	ClinGen ExAC gnomAD
rs1429307016 CA364346415	127	D>G		No	ClinGen TOPMed gnomAD
CA3787512 rs780892478	129	T>I		No	ClinGen ExAC TOPMed gnomAD
CA364346398 rs1265844133	130	S>A		No	ClinGen TOPMed
rs746472987 CA3787510	133	L>P		No	ClinGen ExAC gnomAD
COSM3949150 CA3787509 COSM3949149 rs777572792	136	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1562392007 CA364346338	139	I>V		No	ClinGen Ensembl
rs1477926673 CA364346325	140	Q>H		No	ClinGen gnomAD
rs758294888 CA3787508	142	V>A		No	ClinGen ExAC gnomAD
rs892403711 CA137705165	144	M>T		No	ClinGen Ensembl
CA137705166 rs1040593327	144	M>V		No	ClinGen TOPMed
rs1210932789 CA364346278	147	D>G		No	ClinGen gnomAD
CA3787506 rs778762172	147	D>N		No	ClinGen ExAC gnomAD
TCGA novel	148	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364346269 rs1247484329	149	A>T		No	ClinGen TOPMed
CA137705164 rs759711779	149	A>V		No	ClinGen Ensembl
CA3787504 rs754036605	150	S>N		No	ClinGen ExAC gnomAD
rs760774485 CA3787502	153	S>A		No	ClinGen ExAC gnomAD
rs948212759 CA137705162	154	L>F		No	ClinGen Ensembl
rs910080325 CA137705161	155	P>S		No	ClinGen Ensembl
CA3787501 rs533453749	156	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3787499 rs376880486	157	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3787498 rs373994469	157	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs759315232 CA3787496	159	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1562391708 CA364346196	160	M>I		No	ClinGen Ensembl
rs370069004 CA3787495	160	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3787494 rs770637025	162	C>F		No	ClinGen ExAC gnomAD
rs1372144751 CA364346175	163	M>R		No	ClinGen gnomAD
rs1372144751 CA364346176	163	M>T		No	ClinGen gnomAD
rs746511167 CA3787493	166	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA364346127 rs1425278168	169	A>V		No	ClinGen gnomAD
CA3787492 rs564182469	171	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3787489 rs1554178224	180	S>F		No	ClinGen Ensembl
rs1459905530 CA364346051	181	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200213775 CA3787473	184	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs771599435 CA3787472	185	A>T		No	ClinGen ExAC
CA137705047 rs1009744637	186	L>F		No	ClinGen TOPMed
rs747555646 CA3787471	187	L>S		No	ClinGen ExAC gnomAD
rs1286973092 CA364345980	187	L>V		No	ClinGen TOPMed
rs1562389811 CA364345947	190	V>M		No	ClinGen Ensembl
CA364345932 rs1334623846	191	L>S		No	ClinGen gnomAD
rs369392821 CA137705046	193	D>G		No	ClinGen ESP TOPMed gnomAD
rs1219505965 CA364345912	193	D>H		No	ClinGen TOPMed gnomAD
rs1219505965 CA364345914	193	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	193	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342388930 CA364345890	194	S>*		No	ClinGen gnomAD
rs756329162 CA3787466	196	A>V		No	ClinGen ExAC gnomAD
CA137705045 rs759623931	197	A>T		No	ClinGen Ensembl
CA364345842 rs1416707237	199	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1452929223 CA364345811	201	D>G		No	ClinGen TOPMed gnomAD
rs751618739 COSM1078743 COSM1078742 CA3787462	201	D>Y	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3787461 rs764724441	204	L>P		No	ClinGen ExAC gnomAD
CA3787460 rs528772958	205	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA364345714 rs1430187514	209	W>*		No	ClinGen gnomAD
TCGA novel	212	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	214	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266017305 CA364345662	214	S>P		No	ClinGen gnomAD
CA364345651 rs1218040508	215	K>E		No	ClinGen TOPMed gnomAD
CA3787457 rs760305569	216	E>K		No	ClinGen ExAC gnomAD
CA364345627 rs1258502657	217	N>H		No	ClinGen gnomAD
rs1582687328 CA364345611	218	H>N		No	ClinGen Ensembl
rs767011666 CA3787455	219	A>V		No	ClinGen ExAC gnomAD
rs1026626353 CA137705044	221	I>S		No	ClinGen TOPMed
CA3787454 rs761418444	222	M>L		No	ClinGen ExAC gnomAD
rs773802163 CA3787453	226	R>C		No	ClinGen ExAC TOPMed gnomAD
CA364345522 rs773802163	226	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1342184943 CA364345520	226	R>H		No	ClinGen gnomAD
CA3787452 rs768629683	227	L>S		No	ClinGen ExAC TOPMed gnomAD
CA3787450 rs775328708	228	P>S		No	ClinGen ExAC gnomAD
rs1242731200 CA364345489	229	L>H		No	ClinGen TOPMed
CA137705043 rs961080077	230	M>L		No	ClinGen Ensembl
rs778272579 CA137705042	231	S>G		No	ClinGen Ensembl
rs1156901630 CA364345406	237	N>T		No	ClinGen gnomAD
CA364345400 rs1467600835	238	V>I		No	ClinGen gnomAD
CA364345389 rs1281317436	239	V>E		No	ClinGen TOPMed
rs1194339837 CA364345348	246	S>F		No	ClinGen gnomAD
CA364345345 rs1486894965	247	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA364345330 rs1211956830	249	A>G		No	ClinGen TOPMed
CA3787445 rs747139181	253	A>V		No	ClinGen ExAC gnomAD
CA137705040 COSM1185042 COSM1185041 rs889986664	257	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA364345280 rs1221356366	257	R>Q		No	ClinGen gnomAD
CA137705038 rs753245160	261	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3787442 rs753245160	261	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA364345254 rs1278680975	261	R>W		No	ClinGen gnomAD
rs1397896663 CA364345229	264	D>E		No	ClinGen TOPMed gnomAD
CA3787441 rs779232115	264	D>N		No	ClinGen ExAC gnomAD
CA364345209 rs1172731017	267	Y>F		No	ClinGen TOPMed
CA364345206 rs1406978530	268	R>G		No	ClinGen gnomAD
CA137705037 rs1011807700	270	M>V		No	ClinGen TOPMed
rs755376393 CA3787440	272	I>V		No	ClinGen ExAC gnomAD
CA364345158 rs1381936926	273	P>S		No	ClinGen gnomAD
CA3787424 rs748173561	276	N>H		No	ClinGen ExAC gnomAD
CA364345121 rs1402754731	278	A>E		No	ClinGen gnomAD
rs375775663 CA3787423	278	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA364345115 rs1170375828	279	T>N		No	ClinGen TOPMed
CA364345108 rs1562370342	280	M>T		No	ClinGen Ensembl
rs780249148 CA3787420	286	V>G		No	ClinGen ExAC gnomAD
CA137703749 rs1048386672	288	K>N		No	ClinGen Ensembl
rs1427016094 CA364345041	290	E>*		No	ClinGen TOPMed
rs1320266877 CA364345037	290	E>D		No	ClinGen TOPMed gnomAD
CA364345035 rs1425924950	291	L>M		No	ClinGen gnomAD
rs756968926 CA3787419	292	K>R		No	ClinGen ExAC TOPMed gnomAD
rs372801838 CA3787417	293	S>P		No	ClinGen ESP ExAC gnomAD
rs1233137134 CA364345007	295	L>F		No	ClinGen gnomAD
CA364345011 rs1402689419	295	L>V		No	ClinGen TOPMed
rs759365366 CA3787413	305	L>*		No	ClinGen ExAC TOPMed gnomAD
rs367568228 CA3787412	306	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA137703748 rs771508747	307	H>R		No	ClinGen Ensembl
CA364344884 rs1243905837	312	H>Q		No	ClinGen gnomAD
rs531002886 CA3787410	313	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs531002886 CA364344880	313	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1334198001 CA364344852	317	D>A		No	ClinGen gnomAD
rs1334198001 CA364344851	317	D>G		No	ClinGen gnomAD
rs1361502014 CA364344837	319	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3787408 rs772386134	319	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA364344830 rs1405870898	320	S>C		No	ClinGen gnomAD
rs774273427 CA3787406	321	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA364344817 rs183919850	322	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1185999503 CA364344809	323	E>D		No	ClinGen TOPMed
rs1475785189 CA364344812	323	E>G		No	ClinGen TOPMed
CA364344792 rs1446950491	326	L>V		No	ClinGen TOPMed
CA3787402 rs756482858	330	S>A		No	ClinGen ExAC gnomAD
rs1490112873 CA364344762	331	I>V		No	ClinGen gnomAD
rs777432227 CA3787400	333	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3787399 rs528292731	334	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1285465748 CA364344733	335	I>L		No	ClinGen Ensembl
CA137703747 rs974992194	335	I>M		No	ClinGen TOPMed
CA3787398 rs199860967	336	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA137703746 COSM1444186 rs1050334109 COSM1444187	336	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs199860967 CA3787397	336	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766354376 CA3787394	339	L>F		No	ClinGen ExAC gnomAD
rs773093124 COSM1131873 CA137703745 COSM1131874	342	R>*	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs773093124 CA3787392	342	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3787391 rs767900333	342	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA364344669 rs1328926720	345	R>Q		No	ClinGen TOPMed gnomAD
CA364344638 rs1469029291	348	S>A		No	ClinGen gnomAD
CA364344634 rs1403359905	349	Y>N		No	ClinGen gnomAD
rs1465728414 CA364344626	350	F>I		No	ClinGen TOPMed
CA364344613 rs1562365879	351	I>M		No	ClinGen Ensembl
rs370716875 CA3787371	351	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3787370 rs774447245	352	E>V		No	ClinGen ExAC TOPMed gnomAD
rs764308085 CA3787369	353	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3787368 rs368495590	355	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3787367 rs775496345	357	E>V		No	ClinGen ExAC gnomAD
rs760001658 CA3787365	360	W>G		No	ClinGen ExAC TOPMed gnomAD
rs760001658 CA3787366	360	W>R		No	ClinGen ExAC TOPMed gnomAD
CA3787364 rs777043309	361	V>A		No	ClinGen ExAC TOPMed gnomAD
rs771301742 CA3787363	363	V>A		No	ClinGen ExAC TOPMed gnomAD
CA364344524 rs1456658698	365	D>Y		No	ClinGen TOPMed
rs371628251 CA3787361	368	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3787360 rs768307607	369	Y>C		No	ClinGen ExAC gnomAD
CA364344474 rs1285078873	372	R>C		No	ClinGen TOPMed
CA364344473 rs1315146575	372	R>H		No	ClinGen gnomAD
CA3787357 rs756186980	373	S>F		No	ClinGen ExAC gnomAD
rs1299486478 CA364344438	377	L>S		No	ClinGen TOPMed gnomAD
CA3787356 rs750372866	377	L>V		No	ClinGen ExAC gnomAD
CA3787355 rs373363401	378	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1353759886 CA364344432	378	Y>H		No	ClinGen TOPMed gnomAD
rs757005397 CA3787354	380	P>R		No	ClinGen ExAC
rs1426550616 CA364344419	380	P>T		No	ClinGen gnomAD
CA3787352 rs764242878	381	A>G		No	ClinGen ExAC gnomAD
TCGA novel	381	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3787350 rs752811292	382	R>C		No	ClinGen ExAC TOPMed gnomAD
rs752811292 CA3787351	382	R>G		No	ClinGen ExAC TOPMed gnomAD
rs370583701 CA3787349	382	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373397078 CA3787323	388	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs767909125 CA3787321	389	I>T		No	ClinGen ExAC gnomAD
TCGA novel	390	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs72659363 CA137678119	393	H>R		No	ClinGen Ensembl
CA3787319 rs775284906	395	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1344355268 CA364345860	396	V>A		No	ClinGen gnomAD
CA3787318 rs769528987	402	I>S		No	ClinGen ExAC TOPMed gnomAD
CA364345759 rs769528987	402	I>T		No	ClinGen ExAC TOPMed gnomAD
rs199799422 CA137678118	406	E>*		No	ClinGen Ensembl
rs776181098 CA3787315	408	M>T		No	ClinGen ExAC gnomAD
rs1446172368 CA364345654	408	M>V		No	ClinGen gnomAD
rs1329982951 CA364345618	410	T>A		No	ClinGen gnomAD
rs770809810 CA3787314	413	T>I		No	ClinGen ExAC gnomAD
CA3787312 rs777517671	418	K>R		No	ClinGen ExAC gnomAD
CA137678117 rs758221379 CA3787311	419	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3787310 rs747900308	421	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3787309 rs779131995	422	V>I		No	ClinGen ExAC
CA137671714 rs879237424	423	P>A		No	ClinGen Ensembl
CA364347272 rs1264020015	424	M>L		No	ClinGen gnomAD
CA3787295 rs770458670	424	M>T		No	ClinGen ExAC gnomAD
CA364347273 rs1264020015	424	M>V		No	ClinGen gnomAD
CA3787294 rs746441722	425	E>A		No	ClinGen ExAC TOPMed gnomAD
CA364347261 rs1194216559	425	E>D		No	ClinGen TOPMed gnomAD
CA3787292 rs771951743	426	N>K		No	ClinGen ExAC gnomAD
rs773237080 CA3787293	426	N>S		No	ClinGen ExAC gnomAD
CA364347253 rs1459032654	427	V>I		No	ClinGen TOPMed
rs1284988931 CA364347240	429	T>A		No	ClinGen TOPMed gnomAD
CA3787290 rs778650404	430	I>V		No	ClinGen ExAC TOPMed gnomAD
rs749514186 CA3787288	435	S>T		No	ClinGen ExAC gnomAD
CA364347176 rs1273548348	438	E>G		No	ClinGen gnomAD
TCGA novel	438	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3787286 rs756222374	439	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	441	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	442	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768090608 CA3787284	444	R>*		No	ClinGen ExAC gnomAD
rs757813575 CA3787283	444	R>L		No	ClinGen ExAC gnomAD
rs757813575 CA364347140	444	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764546568 CA3787281	447	L>S		No	ClinGen ExAC gnomAD
rs753536467 CA3787279	451	D>V		No	ClinGen ExAC gnomAD
CA364347088 rs1312599556	452	T>I		No	ClinGen gnomAD
CA364347092 rs1188231709	452	T>P		No	ClinGen gnomAD
rs900172847 CA137671713	455	Y>C		No	ClinGen TOPMed gnomAD
rs1188001291 CA364347032	457	W>*		No	ClinGen TOPMed gnomAD
rs1188001291 COSM1078723 CA364347030	457	W>C	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA364346987 rs1463757378	460	G>A		No	ClinGen gnomAD
rs1432239496 CA364346835	469	G>D		No	ClinGen gnomAD
rs1561976573 CA364346832	470	A>T		No	ClinGen Ensembl
rs904134547 CA364346807	471	I>M		No	ClinGen TOPMed gnomAD
rs1258965158 CA364346811	471	I>T		No	ClinGen TOPMed
CA137671711 rs895274493	473	V>I		No	ClinGen TOPMed
rs756989264 CA3787272	474	Q>*		No	ClinGen ExAC gnomAD
CA3787271 rs375379024	478	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3787269 rs780351978	482	G>R		No	ClinGen ExAC gnomAD
CA3787268 rs769860148	483	S>T		No	ClinGen ExAC gnomAD
rs746008718 CA3787267	484	I>T		No	ClinGen ExAC gnomAD
CA364346590 rs1236158890	485	R>G		No	ClinGen TOPMed gnomAD
CA3787266 rs781386764	485	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1236158890 CA364346592	485	R>W		No	ClinGen TOPMed gnomAD
rs746069720 CA3787247	489	W>*		No	ClinGen ExAC gnomAD
rs1391218737 CA364344090	489	W>R		No	ClinGen TOPMed
rs781477120 CA3787246	492	D>N		No	ClinGen ExAC gnomAD
rs202033189 CA3787244	493	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3787245 rs539754907	493	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1297032375 CA364344008	493	D>V		No	ClinGen TOPMed
rs377402489 CA3787243	494	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs867692289 CA137668300	494	R>Q		No	ClinGen Ensembl
rs201558893 CA137668299	496	Y>C		No	ClinGen gnomAD
CA3787240 rs61757644	500	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA364343823 rs1302391177	505	N>D		No	ClinGen TOPMed
CA3787239 rs755854235	505	N>K		No	ClinGen ExAC TOPMed gnomAD
rs750090539 CA3787238	508	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	510	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376734377 CA3787237	511	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA364343779 rs1229518751	511	M>V		No	ClinGen TOPMed
rs866325807 CA137668297	512	V>A		No	ClinGen Ensembl
CA364343752 rs1216079615	515	R>G		No	ClinGen gnomAD
CA364343738 rs1327954136	517	K>Q		No	ClinGen gnomAD
rs977766236 CA137668296	518	V>G		No	ClinGen Ensembl
rs751018955 CA3787234	520	C>Y		No	ClinGen ExAC gnomAD
CA3787233 rs764067230	521	K>E		No	ClinGen ExAC TOPMed gnomAD
CA364343977 rs1454736377	522	S>F		No	ClinGen gnomAD
rs1017695676 CA137661479	523	W>*		No	ClinGen Ensembl
rs530677113 CA3787217	526	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3787216 rs756880949	527	T>A		No	ClinGen ExAC gnomAD
rs751109556 CA3787215	527	T>I		No	ClinGen ExAC gnomAD
CA364343687 rs1168725348	528	F>I		No	ClinGen gnomAD
CA364343653 rs1319560791	532	P>R		No	ClinGen TOPMed
rs1001056768 CA137661478	532	P>T		No	ClinGen Ensembl
rs763503283 CA3787214	537	R>C		No	ClinGen ExAC TOPMed gnomAD
rs373449107 CA137661477	537	R>H		No	ClinGen ESP TOPMed gnomAD
rs373449107 CA364343621	537	R>L		No	ClinGen ESP TOPMed gnomAD
CA364343614 rs758414146	538	I>M		No	ClinGen ExAC TOPMed gnomAD
CA3787212 rs368833366	539	V>A		No	ClinGen ESP ExAC gnomAD
rs1442572403 CA364343612	539	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs892668305 CA137661476	541	T>A		No	ClinGen TOPMed
CA364343595 rs1170260333	542	H>N		No	ClinGen Ensembl
CA3787211 rs765152820	542	H>R		No	ClinGen ExAC gnomAD
CA3787210 rs759429773	545	A>S		No	ClinGen ExAC TOPMed gnomAD
CA364343515 rs1265943159	550	H>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1235419152 CA364343508	550	H>Q		No	ClinGen TOPMed gnomAD
CA3787156 rs778375397	551	C>Y		No	ClinGen ExAC gnomAD
rs964897064 CA137659524	553	H>R		No	ClinGen TOPMed
CA137659523 rs368325105	557	P>L		No	ClinGen ESP TOPMed gnomAD
rs1436018202 CA364343440	560	Q>*		No	ClinGen gnomAD
rs1232789888 CA364343439	560	Q>P		No	ClinGen TOPMed
CA364343431 rs1388372232	561	S>N		No	ClinGen gnomAD
rs375888918 CA3787150	563	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3787151 rs375888918	563	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3787149 rs781036301	564	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	564	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3787145 rs758502176	569	E>*		No	ClinGen ExAC TOPMed gnomAD
CA137659522 rs574266845	571	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3787143 rs574266845	571	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364343343 rs1581992752	573	T>I		No	ClinGen Ensembl
rs1561830683 CA364343323	576	T>I		No	ClinGen Ensembl
CA364343328 rs1581992733	576	T>P		No	ClinGen Ensembl
CA364343302 rs1345836943	580	G>R		No	ClinGen gnomAD
CA364343303 rs1345836943	580	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1282723804 CA364343296	581	Q>E		No	ClinGen gnomAD
CA3787139 rs766784231	581	Q>R		No	ClinGen ExAC gnomAD
rs774180127 CA364343274	584	D>A		No	ClinGen ExAC gnomAD
CA364343272 rs768376319	584	D>E		No	ClinGen ExAC TOPMed gnomAD
CA137659521 rs1025992387	584	D>N		No	ClinGen Ensembl
rs774180127 CA3787137	584	D>V		No	ClinGen ExAC gnomAD
CA3787135 rs748858250	585	S>C		No	ClinGen ExAC gnomAD
rs1233930147 CA364343269	585	S>P		No	ClinGen TOPMed
rs775106854 CA3787134	586	H>N		No	ClinGen ExAC gnomAD
rs748845055 CA3787133	587	A>V		No	ClinGen ExAC TOPMed gnomAD
CA364343247 rs372779430	589	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372779430 CA3787130	589	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs201997122 CA3787131	589	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746738115 CA137659520	590	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1216031316 CA364343243	590	A>S		No	ClinGen TOPMed
CA3787129 rs746738115	590	A>V		No	ClinGen ExAC TOPMed gnomAD
CA137659519 rs1046372891	591	P>R		No	ClinGen TOPMed
CA3787126 rs752843990	594	S>R		No	ClinGen ExAC gnomAD
rs1255148794 CA364343212	595	S>L		No	ClinGen gnomAD
rs754958660 CA3787124	597	P>L		No	ClinGen ExAC gnomAD
rs761124405 CA3787121	599	S>G		No	ClinGen ExAC TOPMed gnomAD
CA364343188 rs773690520 CA3787120	599	S>R		No	ClinGen ExAC TOPMed gnomAD
rs901043073 CA137659518	600	P>R		No	ClinGen gnomAD
CA3787119 rs763877928	602	S>C		No	ClinGen ExAC gnomAD
rs568984734 CA3787118	605	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555280410 CA3787116	605	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3787117 rs555280410	605	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1308157386 CA364343150	606	S>C		No	ClinGen TOPMed gnomAD
rs1308157386 CA364343149	606	S>F		No	ClinGen TOPMed gnomAD
CA364343153 rs1372927833	606	S>T		No	ClinGen gnomAD
rs1328452037 CA364343147	607	P>A		No	ClinGen TOPMed
CA364343137 rs1428828351	608	N>S		No	ClinGen TOPMed
rs771371697 CA3787113	609	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745305623 CA3787114	609	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1185510513 CA364343129	610	Q>*		No	ClinGen gnomAD
rs746852318 CA364343117	611	H>Q		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with Q96Q07

[MIM: 611185]: Restless legs syndrome 6 (RLS6)

A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. {ECO:0000269|PubMed:17634447, ECO:0000269|PubMed:18216367}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Without disease ID

A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. {ECO:0000269|PubMed:17634447, ECO:0000269|PubMed:18216367}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

2 regional properties for Q96Q07

Type	Name	Position	InterPro Accession
conserved_site	FHF complex subunit HOOK-interacting protein, KELAA motif	959 - 989	IPR045668
domain	FHF complex subunit HOOK-interacting protein, C-terminal	789 - 880	IPR045669

Functions

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

1 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

9 GO annotations of biological process

Name	Definition
adult locomotory behavior	Locomotory behavior in a fully developed and mature organism.
circadian behavior	The specific behavior of an organism that recurs with a regularity of approximately 24 hours.
circadian sleep/wake cycle, non-REM sleep	All sleep stages in the circadian sleep/wake cycle other than REM sleep. These stages are characterized by a slowing of brain waves and other physiological functions.
long-term memory	The memory process that deals with the storage, retrieval and modification of information a long time (typically weeks, months or years) after receiving that information. This type of memory is typically dependent on gene transcription regulated by second messenger activation.
modulation of chemical synaptic transmission	Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission.
multicellular organismal iron ion homeostasis	Any process involved in the maintenance of the distribution of iron stores within tissues and organs of a multicellular organism.
regulation of synaptic vesicle endocytosis	Any process that modulates the frequency, rate or extent of synaptic vesicle endocytosis.
sensory perception of temperature stimulus	The series of events required for an organism to receive a sensory temperature stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.
serotonin metabolic process	The chemical reactions and pathways involving serotonin (5-hydroxytryptamine), a monoamine neurotransmitter occurring in the peripheral and central nervous systems, also having hormonal properties.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MSNSHPLRPF	TAVGEIDHVH	ILSEHIGALL	IGEEYGDVTF	VVEKKRFPAH	RVILAARCQY
70	80	90	100	110	120
FRALLYGGMR	ESQPEAEIPL	QDTTAEAFTM	LLKYIYTGRA	TLTDEKEEVL	LDFLSLAHKY
130	140	150	160	170	180
GFPELEDSTS	EYLCTILNIQ	NVCMTFDVAS	LYSLPKLTCM	CCMFMDRNAQ	EVLSSEGFLS
190	200	210	220	230	240
LSKTALLNIV	LRDSFAAPEK	DIFLALLNWC	KHNSKENHAE	IMQAVRLPLM	SLTELLNVVR
250	260	270	280	290	300
PSGLLSPDAI	LDAIKVRSES	RDMDLNYRGM	LIPEENIATM	KYGAQVVKGE	LKSALLDGDT
310	320	330	340	350	360
QNYDLDHGFS	RHPIDDDCRS	GIEIKLGQPS	IINHIRILLW	DRDSRSYSYF	IEVSMDELDW
370	380	390	400	410	420
VRVIDHSQYL	CRSWQKLYFP	ARVCRYIRIV	GTHNTVNKIF	HIVAFECMFT	NKTFTLEKGL
430	440	450	460	470	480
IVPMENVATI	ADCASVIEGV	SRSRNALLNG	DTKNYDWDSG	YTCHQLGSGA	IVVQLAQPYM
490	500	510	520	530	540
IGSIRLLLWD	CDDRSYSYYV	EVSTNQQQWT	MVADRTKVSC	KSWQSVTFER	QPASFIRIVG
550	560	570	580	590	600
THNTANEVFH	CVHFECPEQQ	SSQKEENSEE	SGTGDTSLAG	QQLDSHALRA	PSGSSLPSSP
610
GSNSRSPNRQ	HQ