AiPD: Autoinhibited Protein Database

Q86VR8

Gene name	FJX1
Protein name	Four-jointed box protein 1
Names	Four-jointed protein homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:24147
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

5-145 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

5-145 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

338-363 (Activation loop from InterPro)

Target domain	149-430 (C-terminal kinase domain of Drosophila Four-jointed, Fj,, mouse Fjx1, and related proteins)
Relief mechanism
Assay

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 Q86VR8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86VR8-F1	Predicted				AlphaFoldDB

413 variants for Q86VR8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA220554894 rs925304185	2	G>D		No	ClinGen TOPMed
CA380400286 rs1157512634	6	R>W		No	ClinGen gnomAD
rs770117845 CA5948166	7	G>S		No	ClinGen ExAC TOPMed gnomAD
CA380400302 rs1416113072	8	A>T		No	ClinGen gnomAD
CA380400311 rs1334552245	9	A>T		No	ClinGen gnomAD
CA220554898 rs936720374	9	A>V		No	ClinGen TOPMed
rs773606626 CA5948167	10	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1377955601 CA380400372	15	W>*		No	ClinGen gnomAD
CA5948169 rs763224271	15	W>L		No	ClinGen ExAC TOPMed gnomAD
CA5948170 rs766826949	18	A>E		No	ClinGen ExAC TOPMed gnomAD
rs766826949 CA380400395	18	A>G		No	ClinGen ExAC TOPMed gnomAD
CA380400399 rs1413142986	19	L>M		No	ClinGen TOPMed
CA380400404 rs1347735978	19	L>P		No	ClinGen TOPMed gnomAD
CA380400426 rs1178425575	21	S>L		No	ClinGen TOPMed
rs1335075657 CA380400435	23	L>Q		No	ClinGen TOPMed gnomAD
CA220554916 rs1041242256	24	A>E		No	ClinGen TOPMed
rs1460298790 CA380400439	24	A>T		No	ClinGen gnomAD
rs1180920217 CA380400452	25	L>P		No	ClinGen gnomAD
CA380400455 rs1319452232	26	W>G		No	ClinGen TOPMed
CA380400465 rs1180386702	27	G>E		No	ClinGen gnomAD
CA220554919 rs930257930	30	L>P		No	ClinGen TOPMed
CA220554921 rs541299265	32	P>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1405060326 CA380400499	33	R>L		No	ClinGen gnomAD
rs1299869024 CA380400501	34	T>A		No	ClinGen TOPMed
CA380400507 rs1329712856	35	E>Q		No	ClinGen gnomAD
CA5948172 rs760024909	37	P>H		No	ClinGen ExAC gnomAD
rs1229700606 CA380400521	37	P>S		No	ClinGen TOPMed gnomAD
CA380400524 rs1401221893	38	A>T		No	ClinGen TOPMed gnomAD
CA380400534 rs1200726375	39	S>C		No	ClinGen TOPMed gnomAD
rs1391054534 CA380400539	40	R>P		No	ClinGen TOPMed gnomAD
rs1391054534 CA380400538	40	R>Q		No	ClinGen TOPMed gnomAD
rs1420072573 CA380400537	40	R>W		No	ClinGen TOPMed
CA380400571 rs1332947125	45	R>L		No	ClinGen TOPMed gnomAD
rs1332947125 CA380400573	45	R>P		No	ClinGen TOPMed gnomAD
rs1332947125 CA380400572	45	R>Q		No	ClinGen TOPMed gnomAD
rs1251751340 CA380400575	46	L>F		No	ClinGen TOPMed gnomAD
rs1360886340 CA380400582	47	P>S		No	ClinGen TOPMed
rs1234573056 CA380400587	48	R>W		No	ClinGen TOPMed gnomAD
rs1238949994 CA380400595	49	R>P		No	ClinGen TOPMed
CA5948173 rs768046869	50	P>L		No	ClinGen ExAC TOPMed gnomAD
CA220554940 rs1034095937	51	A>D		No	ClinGen TOPMed gnomAD
CA220554946 rs1014490349	52	R>Q		No	ClinGen TOPMed gnomAD
CA220554949 rs561606752	54	G>R		No	ClinGen 1000Genomes TOPMed
CA380400619 rs561606752	54	G>S		No	ClinGen 1000Genomes TOPMed
CA220554954 rs1000120545	59	A>E		No	ClinGen TOPMed
CA380400650 rs1452886371	59	A>S		No	ClinGen TOPMed gnomAD
rs1032271775 CA220554957	61	R>C		No	ClinGen TOPMed
rs575053476 CA220554960	63	P>H		No	ClinGen 1000Genomes
CA380400687 rs1260372633	65	P>L		No	ClinGen TOPMed
rs1428465166 CA380400684	65	P>S		No	ClinGen TOPMed gnomAD
rs1204254386 CA380400691	66	P>L		No	ClinGen TOPMed
rs1479419159 CA380400690	66	P>S		No	ClinGen gnomAD
CA380400697 rs1173442362	67	P>H		No	ClinGen TOPMed gnomAD
TCGA novel	68	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380400705 rs1172481762	69	A>T		No	ClinGen gnomAD
CA380400714 rs1424150553	70	W>*		No	ClinGen gnomAD
rs1296715782 CA380400736	73	R>C		No	ClinGen TOPMed gnomAD
CA380400739 rs1393175700	73	R>H		No	ClinGen TOPMed gnomAD
rs1283878597 CA380400742	74	G>D		No	ClinGen TOPMed
rs958024053 CA220554962	74	G>R		No	ClinGen TOPMed gnomAD
CA380400747 rs1427593327	75	G>C		No	ClinGen gnomAD
CA220554965 rs985466532	76	S>F		No	ClinGen TOPMed
CA220554971 rs965522508	78	K>R		No	ClinGen TOPMed gnomAD
CA380400778 rs1302628625	80	F>S		No	ClinGen gnomAD
CA220554973 rs977297426	81	R>W		No	ClinGen TOPMed
rs1221061998 CA380400786	82	A>T		No	ClinGen TOPMed gnomAD
CA220554975 rs918783988	82	A>V		No	ClinGen TOPMed gnomAD
rs1358065825 CA380400813	87	A>T		No	ClinGen TOPMed gnomAD
rs753582277 CA5948177	88	A>D		No	ClinGen ExAC gnomAD
rs1233336628 CA380400826	89	G>S		No	ClinGen gnomAD
rs1428527517 CA380400832	90	A>S		No	ClinGen TOPMed
CA380400835 rs1263450958	90	A>V		No	ClinGen TOPMed
CA380400846 rs1195806721	92	G>C		No	ClinGen TOPMed gnomAD
CA380400845 rs1195806721	92	G>R		No	ClinGen TOPMed gnomAD
CA5948179 rs778698666	93	P>L		No	ClinGen ExAC TOPMed gnomAD
CA380400854 rs778698666	93	P>R		No	ClinGen ExAC TOPMed gnomAD
CA380400863 rs1458613826	95	R>Q		No	ClinGen gnomAD
rs1250633612 CA380400873	96	Q>H		No	ClinGen TOPMed
CA380400882 rs1310871569	98	R>Q		No	ClinGen TOPMed
CA380400880 rs910172747	98	R>W		No	ClinGen TOPMed gnomAD
CA220554994 rs900656710	99	S>R		No	ClinGen TOPMed gnomAD
rs143163205 CA220555002	100	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5948181 rs543372054	100	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA220554999 rs543372054	100	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380400897 rs1032760206	101	P>S		No	ClinGen TOPMed gnomAD
rs1032760206 CA220555005	101	P>T		No	ClinGen TOPMed gnomAD
CA220555008 rs1041901861	102	R>G		No	ClinGen TOPMed gnomAD
rs1443622802 CA380400907	102	R>S		No	ClinGen TOPMed
CA380400914 rs1323088826	103	W>*		No	ClinGen gnomAD
CA380400912 rs1315277463	103	W>*		No	ClinGen gnomAD
CA380400929 rs1565388458	105	V>E		No	ClinGen Ensembl
rs903025183 CA220555010	106	S>*		No	ClinGen TOPMed
CA380400962 rs1246336419	109	Q>K		No	ClinGen gnomAD
rs1432732841 CA380400971	109	Q>L		No	ClinGen TOPMed gnomAD
rs1432732841 CA380400970	109	Q>R		No	ClinGen TOPMed gnomAD
rs955778951 CA380400985	110	P>L		No	ClinGen TOPMed gnomAD
CA220555016 rs955778951	110	P>R		No	ClinGen TOPMed gnomAD
CA380400990 rs1199597702	111	R>W		No	ClinGen TOPMed gnomAD
CA220555019 rs1032888358	112	P>L		No	ClinGen TOPMed gnomAD
CA380401004 rs1032888358	112	P>R		No	ClinGen TOPMed gnomAD
CA220555021 rs953319884	113	E>A		No	ClinGen TOPMed gnomAD
CA220555025 rs921786598	113	E>D		No	ClinGen Ensembl
CA380401041 rs1445073545	115	S>N		No	ClinGen TOPMed
CA380401066 rs1485502988	117	A>G		No	ClinGen gnomAD
rs1370992094 CA380401059	117	A>T		No	ClinGen gnomAD
CA380401067 rs1485502988	117	A>V		No	ClinGen gnomAD
rs1393612538 CA380401076	118	V>A		No	ClinGen TOPMed
rs1330207527 CA380401071	118	V>L		No	ClinGen TOPMed
TCGA novel	119	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1006835310 CA220555028	119	H>P		No	ClinGen TOPMed
TCGA novel	119	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA220555032 rs1018244515	120	G>A		No	ClinGen TOPMed gnomAD
CA380401097 rs1018244515	120	G>E		No	ClinGen TOPMed gnomAD
CA5948183 CA380401094 rs748206142	120	G>R		No	ClinGen ExAC TOPMed gnomAD
CA380401099 rs1018244515	120	G>V		No	ClinGen TOPMed gnomAD
rs748206142 CA380401095	120	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1421539781 CA380401108	121	G>D		No	ClinGen gnomAD
rs1383438833 CA380401102	121	G>S		No	ClinGen gnomAD
CA380401113 rs1159360009	122	V>I		No	ClinGen TOPMed gnomAD
rs770068620 CA5948184	123	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1439480156 CA380401179	126	R>L		No	ClinGen TOPMed
CA380401185 rs1265109169	127	G>S		No	ClinGen TOPMed
CA380401207 rs1221849190	129	E>K		No	ClinGen TOPMed
rs1023992218 CA380401231	130	E>D		No	ClinGen gnomAD
CA220555035 rs965824099	130	E>K		No	ClinGen TOPMed gnomAD
CA380401239 rs1452885507	131	Q>*		No	ClinGen gnomAD
rs1452885507 CA380401237	131	Q>E		No	ClinGen gnomAD
CA5948185 rs532198178	131	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA220555041 rs980022313	133	P>L		No	ClinGen TOPMed gnomAD
rs980022313 CA380401272	133	P>R		No	ClinGen TOPMed gnomAD
CA380401267 rs1241593601	133	P>S		No	ClinGen gnomAD
rs763178114 CA5948186	134	P>Q		No	ClinGen ExAC gnomAD
TCGA novel	135	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380401313 rs1350459690	137	S>P		No	ClinGen TOPMed
CA380401323 rs1302683529	138	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771063260 CA5948187	140	Q>*		No	ClinGen ExAC TOPMed
rs1241878691 CA380401341	140	Q>R		No	ClinGen TOPMed
rs1257506549 CA380401347	141	A>T		No	ClinGen gnomAD
CA380401360 rs1461643084	143	A>V		No	ClinGen gnomAD
rs1241486584 CA380401387	147	A>E		No	ClinGen gnomAD
rs676419 CA220555051	147	A>T		No	ClinGen Ensembl
rs759845559 CA5948189	148	A>T		No	ClinGen ExAC gnomAD
rs767991868 CA5948190	149	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1417853045 CA380401408	151	A>S		No	ClinGen TOPMed gnomAD
rs1417853045 CA380401406	151	A>T		No	ClinGen TOPMed gnomAD
rs974351566 CA220555057	151	A>V		No	ClinGen Ensembl
rs920639459 CA220555060	152	R>G		No	ClinGen Ensembl
rs12794318 CA220555066	153	M>K		No	ClinGen Ensembl
rs12792700 VAR_043117 CA220555063	153	M>L		No	ClinGen UniProt Ensembl dbSNP
rs12794318 CA220555067	153	M>R		No	ClinGen Ensembl
rs1469573002 CA380401425	154	V>G		No	ClinGen gnomAD
CA5948191 rs753246584	154	V>L		No	ClinGen ExAC TOPMed gnomAD
rs929399879 CA220555074	157	E>G		No	ClinGen Ensembl
CA220555075 rs111623657	159	G>A		No	ClinGen Ensembl
rs1335142633 CA380401450	159	G>R		No	ClinGen TOPMed gnomAD
CA380401452 rs1335142633	159	G>W		No	ClinGen TOPMed gnomAD
TCGA novel	161	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	166	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343396850 CA380401504	167	R>*		No	ClinGen gnomAD
CA5948194 rs753288549	167	R>Q		No	ClinGen ExAC gnomAD
rs911910713 CA220555091	168	L>M		No	ClinGen gnomAD
rs1303257504 CA380401509	168	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1407056053 CA380401515	169	A>G		No	ClinGen TOPMed
CA380401519 rs1261042744	170	R>C		No	ClinGen gnomAD
rs750209909 CA5948197	172	A>V		No	ClinGen ExAC gnomAD
rs1264216685 CA380401539	173	D>A		No	ClinGen gnomAD
rs900791354 CA380401545	174	G>C		No	ClinGen TOPMed
rs900791354 CA220555104	174	G>R		No	ClinGen TOPMed
rs900791354 CA380401544	174	G>S		No	ClinGen TOPMed
CA380401554 rs1479669415	175	T>I		No	ClinGen gnomAD
CA380401558 rs777843070	176	R>L		No	ClinGen ExAC gnomAD
CA5948202 rs777843070	176	R>P		No	ClinGen ExAC gnomAD
CA5948201 rs768729646	176	R>S		No	ClinGen ExAC gnomAD
rs1426316009 CA380401559	177	A>S		No	ClinGen gnomAD
rs749361851 CA5948203	178	C>W		No	ClinGen ExAC gnomAD
CA5948204 rs771139559	179	V>L		No	ClinGen ExAC TOPMed gnomAD
CA220555120 rs771139559	179	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1274255043 CA380401577	180	R>G		No	ClinGen TOPMed
rs1214805547 CA380401587	181	Y>*		No	ClinGen TOPMed
rs373489410 CA220555123	181	Y>C		No	ClinGen ESP gnomAD
CA220555127 rs891523682	182	G>A		No	ClinGen Ensembl
CA5948205 rs774488948	182	G>S		No	ClinGen ExAC gnomAD
rs746204049 CA5948206	183	I>L		No	ClinGen ExAC gnomAD
CA220555130 rs1010010619	185	P>L		No	ClinGen TOPMed gnomAD
CA380401611 rs1010010619	185	P>R		No	ClinGen TOPMed gnomAD
rs1319786414 CA380401629	188	I>F		No	ClinGen gnomAD
rs1215363975 CA380401632	188	I>T		No	ClinGen gnomAD
CA380401655 rs775843722	191	E>D		No	ClinGen ExAC gnomAD
rs1305985534 CA380401662	192	A>V		No	ClinGen gnomAD
CA380401665 rs761099399	193	L>P		No	ClinGen ExAC TOPMed gnomAD
rs761099399 CA5948210	193	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA5948211 rs768409515	195	Y>*		No	ClinGen ExAC gnomAD
CA380401677 rs1265764624	195	Y>C		No	ClinGen gnomAD
rs764613401 CA5948212	196	Y>C		No	ClinGen ExAC gnomAD
CA380401682 rs1475919213	196	Y>H		No	ClinGen gnomAD
rs776157019 COSM1604514 COSM1604513 CA5948213	197	L>V	liver breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA380401695 rs1207261390	198	A>E		No	ClinGen TOPMed
rs761278273 CA5948215	199	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5948214 rs761278273	199	R>S		No	ClinGen ExAC TOPMed gnomAD
rs867504194 CA220555150	201	L>M		No	ClinGen gnomAD
rs758255303 CA5948217	203	L>V		No	ClinGen ExAC gnomAD
CA5948219 rs190229494 CA220555161	207	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190229494 CA5948220	207	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380401764 rs1230311305	211	A>T		No	ClinGen gnomAD
rs1292550154 CA380401769	211	A>V		No	ClinGen gnomAD
rs1220377480 CA380401781	214	R>G		No	ClinGen gnomAD
rs754926596 CA5948222	214	R>P		No	ClinGen ExAC TOPMed gnomAD
CA380401785 rs1175671204	215	V>M		No	ClinGen TOPMed
CA5948223 rs781017522	216	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1162365637 CA380401791	216	E>K		No	ClinGen gnomAD
rs1458314758 CA380401801	217	A>V		No	ClinGen TOPMed gnomAD
CA380401806 rs757323111	218	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5948225 rs757323111	218	R>P		No	ClinGen ExAC TOPMed gnomAD
CA380401805 rs757323111	218	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749369349 CA5948224	218	R>W		No	ClinGen ExAC gnomAD
TCGA novel	219	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423404196 CA380401807	219	G>S		No	ClinGen gnomAD
CA5948226 rs779194365	219	G>V		No	ClinGen ExAC TOPMed gnomAD
CA5948228 rs772283158	222	W>R		No	ClinGen ExAC gnomAD
CA380401834 rs1326300812	223	A>T		No	ClinGen TOPMed
CA5948230 rs747393136	224	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA380401876 rs1382351788	228	E>D		No	ClinGen gnomAD
rs1352014440 CA380401896	232	A>E		No	ClinGen gnomAD
rs777044069 CA5948232	232	A>T		No	ClinGen ExAC gnomAD
rs1205131292 CA380401903	233	H>R		No	ClinGen gnomAD
CA380401916 rs1444545444	235	T>P		No	ClinGen gnomAD
CA220555211 rs371225997	237	G>D		No	ClinGen Ensembl
CA380401947 rs1243297441	239	V>A		No	ClinGen gnomAD
CA5948235 rs772863576	241	S>N		No	ClinGen ExAC gnomAD
CA220555216 rs998630452	242	L>P		No	ClinGen TOPMed gnomAD
rs1157975532 CA380401967	243	T>A		No	ClinGen gnomAD
CA5948236 rs762629370	244	R>C		No	ClinGen ExAC gnomAD
CA380401984 rs1168179890	245	W>C		No	ClinGen TOPMed
CA380401994 rs1336475218	247	P>L		No	ClinGen gnomAD
rs754874092 CA5948239	247	P>T		No	ClinGen ExAC gnomAD
rs1278246710 CA380402002	248	N>K		No	ClinGen gnomAD
CA380402000 rs1238939351	248	N>S		No	ClinGen gnomAD
rs1224440347 CA380402015	250	T>M		No	ClinGen TOPMed gnomAD
rs1224440347 CA380402014	250	T>R		No	ClinGen TOPMed gnomAD
rs752646867 CA5948241	251	D>E		No	ClinGen ExAC gnomAD
CA5948242 rs559530198	252	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs559530198 CA220555237	252	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA380402029 rs1252019615	253	V>L		No	ClinGen gnomAD
CA380402033 rs1437855064	254	V>M		No	ClinGen gnomAD
CA5948244 rs745974596	255	P>L		No	ClinGen ExAC gnomAD
rs747342329 CA5948247	257	P>L		No	ClinGen ExAC gnomAD
rs768966225 CA380402073	260	S>L		No	ClinGen ExAC TOPMed gnomAD
rs768966225 CA5948248	260	S>W		No	ClinGen ExAC TOPMed gnomAD
CA380402088 CA5948251 rs770340270	262	D>E		No	ClinGen ExAC TOPMed gnomAD
CA220555257 rs950778818	262	D>G		No	ClinGen Ensembl
CA5948252 rs772808472	263	G>R		No	ClinGen ExAC gnomAD
CA380402094 rs762575886	264	R>G		No	ClinGen ExAC gnomAD
CA5948253 rs762575886	264	R>S		No	ClinGen ExAC gnomAD
CA5948254 rs917524425	266	R>L		No	ClinGen TOPMed
rs1283002526 CA380402112	267	P>L		No	ClinGen TOPMed gnomAD
CA380402117 rs1220873372	268	L>F		No	ClinGen gnomAD
rs771587869	268	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA380402127 rs1422751985	270	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5948260 rs752538855	271	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5948261 rs760487555	271	A>V		No	ClinGen ExAC gnomAD
rs528278578 CA220555289	272	G>E		No	ClinGen 1000Genomes TOPMed
CA220555287 rs200057673	272	G>R		No	ClinGen gnomAD
rs548112170 CA5948264	280	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	281	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380402200 rs1172313573	281	A>G		No	ClinGen TOPMed gnomAD
rs1172313573 CA380402201	281	A>V		No	ClinGen TOPMed gnomAD
rs1206009457 CA380402207	282	E>D		No	ClinGen TOPMed
rs780250139 CA5948265	282	E>V		No	ClinGen ExAC TOPMed gnomAD
rs751835841 CA5948266	284	V>G		No	ClinGen ExAC gnomAD
CA220555310 rs776978610	285	D>N		No	ClinGen Ensembl
CA380402223 rs1290604543	285	D>V		No	ClinGen TOPMed
CA380402237 rs1344204770	288	Q>K		No	ClinGen TOPMed gnomAD
rs778474284 CA5948271	288	Q>L		No	ClinGen ExAC gnomAD
CA380402257 rs1412746215	290	T>S		No	ClinGen gnomAD
rs1326643954 CA380402259	291	D>N		No	ClinGen gnomAD
rs1326643954 CA380402261	291	D>Y		No	ClinGen gnomAD
CA380402278 rs1226323389	293	I>T		No	ClinGen gnomAD
rs748780489 CA5948272	294	L>F		No	ClinGen ExAC gnomAD
CA5948273 rs77030854	295	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1361378048 CA380402288	295	F>L		No	ClinGen TOPMed
rs76580557 CA380402289	295	F>S		No	ClinGen Ensembl
rs76580557 CA220555327	295	F>Y		No	ClinGen Ensembl
CA5948277 rs771785260	301	N>I		No	ClinGen ExAC gnomAD
CA380402328 rs771785260	301	N>S		No	ClinGen ExAC gnomAD
CA5948276 rs771785260	301	N>T		No	ClinGen ExAC gnomAD
CA5948282 rs763004503	306	V>I		No	ClinGen ExAC gnomAD
rs763004503 CA380402358 CA5948281	306	V>L		No	ClinGen ExAC gnomAD
CA220555353 rs371151775	308	N>D		No	ClinGen ESP TOPMed
CA380402377 rs1565388904	309	L>I		No	ClinGen Ensembl
rs755117887 CA5948284	310	F>L		No	ClinGen ExAC gnomAD
CA5948285 rs781499867	311	S>C		No	ClinGen ExAC gnomAD
CA380402399 rs1403204919	311	S>N		No	ClinGen TOPMed
CA220555362 rs944722255	312	L>R		No	ClinGen TOPMed gnomAD
CA5948286 rs752983944	313	Q>R		No	ClinGen ExAC gnomAD
rs756545201 CA5948287	314	W>C		No	ClinGen ExAC TOPMed gnomAD
CA380402435 rs148087489	316	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5948288 rs148087489	316	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5948291 rs201811393	318	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5948289 rs201811393	318	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5948290 rs201811393	318	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA380402451 rs1245991105	319	M>I		No	ClinGen gnomAD
rs1384589682 CA380402450 COSM1252469 COSM1252470	319	M>T	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs866361271 CA220555378	321	R>H		No	ClinGen Ensembl
rs370548778 CA5948292	322	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5948294 rs775244907	324	S>R		No	ClinGen ExAC gnomAD
CA380402494 rs1261066897	326	L>V		No	ClinGen gnomAD
rs746774832 CA5948295	328	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5948296 rs768496322	329	G>R		No	ClinGen ExAC TOPMed gnomAD
rs776424047 CA380402516	330	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5948297 rs776424047	330	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1183052315 CA380402521	331	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1421368424 CA380402538	333	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs759712434 CA5948301	334	L>P		No	ClinGen ExAC gnomAD
CA5948302 rs767604436	335	V>L		No	ClinGen ExAC gnomAD
CA5948305 rs764499451	339	N>S		No	ClinGen ExAC gnomAD
rs757786737 CA5948307	341	A>V		No	ClinGen ExAC gnomAD
CA5948309 rs745335153	342	G>C		No	ClinGen ExAC gnomAD
CA380402592 rs1316273161	342	G>D		No	ClinGen gnomAD
rs757992331 CA380402601	344	V>L		No	ClinGen ExAC TOPMed gnomAD
rs757992331 CA5948310	344	V>M		No	ClinGen ExAC TOPMed gnomAD
rs779557678 CA5948311	346	G>R		No	ClinGen ExAC gnomAD
rs768302122 CA5948313	347	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs776372343 CA5948314	348	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs946222933 CA220555433	348	R>W		No	ClinGen TOPMed
rs1590456676 CA380402639	350	A>G		No	ClinGen Ensembl
CA380402635 rs1250351286	350	A>T		No	ClinGen gnomAD
CA380402646 rs1417871931	351	G>V		No	ClinGen gnomAD
CA380402648 rs747959914	352	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5948315 rs747959914	352	M>V		No	ClinGen ExAC TOPMed gnomAD
rs769699799 CA5948316	354	D>V		No	ClinGen ExAC gnomAD
CA5948317 rs773243175	355	K>N		No	ClinGen ExAC TOPMed gnomAD
CA5948318 rs569715705	356	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	357	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1443655044 CA380402695	358	E>K		No	ClinGen TOPMed gnomAD
rs1372509142 CA380402706	359	P>L		No	ClinGen gnomAD
CA380402703 rs1565389045	359	P>S		No	ClinGen Ensembl
CA380402711 rs1284927262	360	L>Q		No	ClinGen gnomAD
rs1276721699 CA380402720	362	Q>E		No	ClinGen gnomAD
rs1309491839 CA380402724	362	Q>L		No	ClinGen gnomAD
rs775450201 CA5948320	363	S>L		No	ClinGen ExAC gnomAD
rs1565389074 CA380402736	364	V>A		No	ClinGen Ensembl
CA380402732 rs1482340808	364	V>M		No	ClinGen gnomAD
CA380402741 rs1270259159	365	C>Y		No	ClinGen gnomAD
rs764429952 CA5948323	366	V>L		No	ClinGen ExAC TOPMed gnomAD
rs764429952 CA5948322	366	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1411363066 CA380402757	367	F>L		No	ClinGen gnomAD
rs757733800 CA5948324	368	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1353457587 CA380402765	369	E>*		No	ClinGen TOPMed gnomAD
rs1353457587 CA380402763	369	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA380402771 rs750994924	370	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5948327 rs758840196	370	R>L		No	ClinGen ExAC TOPMed gnomAD
CA380402773 rs758840196	370	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs202089278 CA5948328	371	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs530903437 CA5948330	372	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1335124584 CA380402809	377	E>K		No	ClinGen TOPMed
CA380402812 rs1452300687	377	E>V		No	ClinGen TOPMed
rs1407477684 CA380402825	379	H>R		No	ClinGen TOPMed
TCGA novel	380	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769699224 CA5948333	380	R>S		No	ClinGen ExAC TOPMed gnomAD
rs554882026 CA5948335	381	G>A		No	ClinGen 1000Genomes ExAC
rs1244259042 CA380402842	382	Q>H		No	ClinGen gnomAD
CA5948336 rs770783055	382	Q>P		No	ClinGen ExAC gnomAD
CA5948337 rs770783055	382	Q>R		No	ClinGen ExAC gnomAD
CA380402850 CA380402849 rs768966541	383	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5948338 rs760881801	383	D>G		No	ClinGen ExAC gnomAD
rs777056902 CA5948340	384	A>S		No	ClinGen ExAC TOPMed gnomAD
CA380402851 rs777056902	384	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1366055111 CA380402865	386	A>G		No	ClinGen gnomAD
rs367790574 CA220555510	386	A>T		No	ClinGen Ensembl
rs1321339232 CA380402867	387	R>G		No	ClinGen gnomAD
rs765578115 CA5948342	387	R>P		No	ClinGen ExAC gnomAD
rs1431227316 CA380402880	389	L>R		No	ClinGen gnomAD
rs370214279 CA220555515	390	R>L		No	ClinGen gnomAD
rs1040638787 CA220555518	391	L>I		No	ClinGen TOPMed gnomAD
CA380402902 rs1359343033	393	R>P		No	ClinGen gnomAD
rs750756877 CA5948343	394	R>C		No	ClinGen ExAC gnomAD
rs1447892558 CA380402908	394	R>L		No	ClinGen gnomAD
rs750756877 CA380402904	394	R>S		No	ClinGen ExAC gnomAD
rs1215563812 CA380402915 CA380402916	395	H>Q		No	ClinGen TOPMed gnomAD
rs1246962700 CA380402917	396	E>K		No	ClinGen gnomAD
rs1463282460 CA380402926	397	P>A		No	ClinGen TOPMed gnomAD
rs1463282460 CA380402927	397	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1463282460 CA380402925	397	P>T		No	ClinGen TOPMed gnomAD
rs763476015 CA380402934	398	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5948344 rs763476015	398	R>L		No	ClinGen ExAC TOPMed gnomAD
CA380402935 rs763476015	398	R>P		No	ClinGen ExAC TOPMed gnomAD
rs575037505 CA220555529	401	E>D		No	ClinGen 1000Genomes
CA5948345 rs766817613	401	E>K		No	ClinGen ExAC gnomAD
TCGA novel	403	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380402981 rs1410105934	406	A>S		No	ClinGen gnomAD
rs1245729713 CA380402991	407	D>E		No	ClinGen TOPMed
CA380402993 rs1401004730	408	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs754523946 CA5948347	409	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	409	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751046589 CA5948346	409	H>Y		No	ClinGen ExAC gnomAD
CA380403017 rs1454843621	411	Q>H		No	ClinGen TOPMed gnomAD
CA220555536 rs866466824	415	R>C		No	ClinGen gnomAD
CA5948348 rs12286850 VAR_062233	415	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752406921 CA5948349	418	D>A		No	ClinGen ExAC TOPMed gnomAD
rs1352041672 CA380403061	419	F>L		No	ClinGen gnomAD
CA380403077 rs1326641476	421	A>D		No	ClinGen gnomAD
CA380403076 rs1266693774	421	A>S		No	ClinGen gnomAD
rs1461995932 CA380403081	422	K>E		No	ClinGen TOPMed
TCGA novel	423	H>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243394725 CA380403110	426	H>N		No	ClinGen gnomAD
rs1243394725 CA380403112	426	H>Y		No	ClinGen gnomAD
CA380403123 rs1184780981	427	C>F		No	ClinGen gnomAD
CA380403121 rs1184780981	427	C>Y		No	ClinGen gnomAD
CA380403134 rs1158141241	429	A>T		No	ClinGen gnomAD
CA5948351 rs777561243	432	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1182295739 CA380403171	434	R>Q		No	ClinGen TOPMed gnomAD
rs1590457048 CA380403174	435	S>A		No	ClinGen Ensembl
rs564019032 CA5948352	435	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD

No associated diseases with Q86VR8

2 regional properties for Q86VR8

Type	Name	Position	InterPro Accession
domain	TRP, C-terminal	172 - 602	IPR010308
domain	ML-like domain	30 - 168	IPR032800

Functions

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

1 GO annotations of cellular component

Name	Definition
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
cell-cell signaling	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
retina layer formation	The process in which the vertebrate retina is organized into three laminae: the outer nuclear layer (ONL), which contains photoreceptor nuclei; the inner nuclear layer (INL), which contains amacrine, bipolar and horizontal cells; and the retinal ganglion cell (RGC) layer. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells. The inner plexiform layer (IPL) is positioned between the INL and the ganglion cell layer and contains the dendrites of RGCs and processes of bipolar and amacrine cells. Spanning all layers of the retina are the radially oriented Mueller glia.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BQB4	Fjx1	Four-jointed box protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGRRMRGAAA	TAGLWLLALG	SLLALWGGLL	PPRTELPASR	PPEDRLPRRP	ARSGGPAPAP
70	80	90	100	110	120
RFPLPPPLAW	DARGGSLKTF	RALLTLAAGA	DGPPRQSRSE	PRWHVSARQP	RPEESAAVHG
130	140	150	160	170	180
GVFWSRGLEE	QVPPGFSEAQ	AAAWLEAARG	ARMVALERGG	CGRSSNRLAR	FADGTRACVR
190	200	210	220	230	240
YGINPEQIQG	EALSYYLARL	LGLQRHVPPL	ALARVEARGA	QWAQVQEELR	AAHWTEGSVV
250	260	270	280	290	300
SLTRWLPNLT	DVVVPAPWRS	EDGRLRPLRD	AGGELANLSQ	AELVDLVQWT	DLILFDYLTA
310	320	330	340	350	360
NFDRLVSNLF	SLQWDPRVMQ	RATSNLHRGP	GGALVFLDNE	AGLVHGYRVA	GMWDKYNEPL
370	380	390	400	410	420
LQSVCVFRER	TARRVLELHR	GQDAAARLLR	LYRRHEPRFP	ELAALADPHA	QLLQRRLDFL
430
AKHILHCKAK	YGRRSGT