AiPD: Autoinhibited Protein Database

Q8WU20

Gene name	FRS2
Protein name	Fibroblast growth factor receptor substrate 2
Names	FGFR substrate 2, FGFR-signaling adaptor SNT, Suc1-associated neurotrophic factor target 1, SNT-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10818
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

92-263 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

92-263 (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

3 structures for Q8WU20

Entry ID	Method	Resolution	Chain	Position	Source
1XR0	NMR	-	B	11-136	PDB
2MFQ	NMR	-	A	11-122	PDB
AF-Q8WU20-F1	Predicted				AlphaFoldDB

350 variants for Q8WU20

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs770627638 CA6680072	5	C>F		No	ClinGen ExAC TOPMed gnomAD
CA385714433 rs1374558456	9	D>N		No	ClinGen gnomAD
rs1299606394 CA385714549	11	D>E		No	ClinGen gnomAD
CA385714553 rs1367826118	12	T>A		No	ClinGen TOPMed
rs1337935415 CA385714573	13	V>I		No	ClinGen gnomAD
CA385714604 rs1217704464	14	P>A		No	ClinGen gnomAD
rs759053200 CA6680074	14	P>L		No	ClinGen ExAC
rs369674581 CA6680077	16	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6680078 rs764065492	17	H>D		No	ClinGen ExAC gnomAD
CA385714691 rs764065492	17	H>Y		No	ClinGen ExAC gnomAD
rs1485527843 CA385714702	18	R>Q		No	ClinGen gnomAD
CA238519041 rs1005717600	18	R>W		No	ClinGen TOPMed gnomAD
rs1377084436 CA385715177	24	I>T		No	ClinGen gnomAD
rs755082259 CA6680107	26	V>M		No	ClinGen ExAC gnomAD
CA385715341 rs1238816445	29	D>G		No	ClinGen gnomAD
CA385715309 rs1593071445	29	D>N		No	ClinGen Ensembl
CA385715457 rs1266443686	34	G>D		No	ClinGen gnomAD
rs767915665 CA6680108	37	I>V		No	ClinGen ExAC gnomAD
CA6680109 rs753146500	41	T>K		No	ClinGen ExAC gnomAD
CA6680110 rs200678354	42	D>G		No	ClinGen ESP ExAC gnomAD
rs778074114 CA6680111	43	T>R		No	ClinGen ExAC gnomAD
CA6680113 rs758099198	45	L>V		No	ClinGen ExAC gnomAD
TCGA novel	46	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	47	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418475076 CA385715722	49	T>I		No	ClinGen gnomAD
CA6680115 rs746564330	50	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6680116 rs768142080	50	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1163765140 CA385715750	51	K>I		No	ClinGen gnomAD
rs776444885 CA6680117	52	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200152963 CA6680118	52	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6680120 rs773180827	64	R>H	Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs537781022 CA238519637	67	Y>C		No	ClinGen gnomAD
rs766577244 CA6680122	69	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	70	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385716282 rs1249741622	78	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs376594597 CA238519652	84	Q>R		No	ClinGen ESP
CA385717092 rs1471024313	85	G>E		No	ClinGen TOPMed gnomAD
rs774461839 CA6680143	93	R>C		No	ClinGen ExAC TOPMed gnomAD
CA385717200 rs774461839	93	R>G		No	ClinGen ExAC TOPMed gnomAD
CA238519928 rs549877100	93	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA385717218 rs1593073235	95	E>K		No	ClinGen Ensembl
rs759767008 CA6680144	96	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs772156795 CA6680145	98	F>L		No	ClinGen ExAC gnomAD
CA385717296 rs1173391550	100	M>L		No	ClinGen gnomAD
CA238519945 rs760735272	104	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1467615817 CA385717369	104	I>S		No	ClinGen TOPMed
rs764648129 CA6680148	107	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1402005319 CA385717411	107	N>Y		No	ClinGen gnomAD
CA6680149 rs754273671	109	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6680150 rs762095539	109	S>N		No	ClinGen ExAC gnomAD
rs765586300 CA6680151	110	I>T		No	ClinGen ExAC gnomAD
rs1233546715 CA385717464	111	N>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA385717488 rs1314182867	112	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1286384844 CA385717495	113	V>M		No	ClinGen gnomAD
rs754698879 CA6680153	115	E>D		No	ClinGen ExAC gnomAD
CA238519963 rs1037793926	115	E>V		No	ClinGen TOPMed
CA385717566 rs1213154732	118	V>L		No	ClinGen gnomAD
CA385717592 rs1241191707	120	R>G		No	ClinGen TOPMed gnomAD
rs1368862608 CA385717608	121	N>D		No	ClinGen TOPMed
rs1192411774 CA385717623	121	N>K		No	ClinGen gnomAD
CA6680154 rs780969839	121	N>S		No	ClinGen ExAC gnomAD
CA385717640 rs1453115461	122	N>K		No	ClinGen gnomAD
CA385717643 rs1193561255	123	H>N		No	ClinGen gnomAD
CA385717679 rs1381242141	125	T>I		No	ClinGen gnomAD
rs541934715 CA238519972	127	L>M		No	ClinGen TOPMed gnomAD
rs778254686 CA238519975	130	P>A		No	ClinGen Ensembl
CA6680155 rs752313198	131	R>G		No	ClinGen ExAC gnomAD
rs777868123 CA6680157	132	T>A		No	ClinGen ExAC gnomAD
rs777868123 CA385717756	132	T>S		No	ClinGen ExAC gnomAD
rs1385512738 CA385717773	134	R>G		No	ClinGen TOPMed
CA6680159 rs770664718	134	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6680160 rs778811008	135	T>I		No	ClinGen ExAC gnomAD
rs1451309793 CA385717780	135	T>P		No	ClinGen TOPMed
CA6680161 rs745630857	136	P>L		No	ClinGen ExAC gnomAD
CA385717807 rs1221828474	137	T>I		No	ClinGen gnomAD
rs772398767 CA6680162	138	T>A		No	ClinGen ExAC gnomAD
TCGA novel	139	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1593075032 CA385717884	140	G>E		No	ClinGen Ensembl
rs1026964660 CA238520330	142	A>V		No	ClinGen TOPMed gnomAD
CA6680187 rs768752442	144	Q>R		No	ClinGen ExAC gnomAD
rs776809640 CA6680188	145	N>H		No	ClinGen ExAC gnomAD
CA6680190 rs748152706	146	L>F		No	ClinGen ExAC gnomAD
rs1408079026 CA385717954	147	P>T		No	ClinGen gnomAD
rs574193124 CA6680191	148	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA238520346 rs868334433	150	Y>C		No	ClinGen Ensembl
rs763389941 CA6680192	152	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1241566251 CA385718021	153	Y>F		No	ClinGen TOPMed
CA238520355 rs992447391	155	S>L		No	ClinGen TOPMed
CA385718057 rs1416421567	156	F>C		No	ClinGen gnomAD
rs199962691 CA238520359	159	A>T		No	ClinGen gnomAD
rs1218926642 CA385718111	161	S>F		No	ClinGen TOPMed gnomAD
CA385718119 rs1279535133	162	H>R		No	ClinGen gnomAD
rs776463041 CA6680194	163	P>L		No	ClinGen ExAC gnomAD
rs776463041 CA6680195	163	P>Q		No	ClinGen ExAC gnomAD
rs535088310 CA6680198	165	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs765228856 CA6680199	165	S>N		No	ClinGen ExAC gnomAD
CA385718156 rs1255925693	166	R>G		No	ClinGen gnomAD
rs1441549169 CA385718159	166	R>K		No	ClinGen TOPMed
CA385718176 rs1485467127	167	H>L		No	ClinGen gnomAD
TCGA novel	169	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6680201 rs758207761	171	G>E		No	ClinGen ExAC gnomAD
rs1377149666 CA385718221	172	S>G		No	ClinGen gnomAD
rs1474479108 CA385718240	173	A>V		No	ClinGen gnomAD
CA385718246 rs1291591955	174	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs183123586 CA6680202	174	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6680203 rs746772510	176	P>R		No	ClinGen ExAC TOPMed gnomAD
rs969699522 CA238520385	176	P>S		No	ClinGen TOPMed
CA385718278 rs1400157806	178	V>A		No	ClinGen gnomAD
CA6680206 rs755240294 CA6680205	178	V>L		No	ClinGen ExAC gnomAD
CA6680207 rs748325522	179	G>R		No	ClinGen ExAC gnomAD
CA6680208 rs769696270	181	E>K		No	ClinGen ExAC
rs938612811 CA238520422	183	T>A		No	ClinGen TOPMed gnomAD
rs749773957 CA385718355	184	H>Q		No	ClinGen ExAC gnomAD
rs972632154 CA238520427	184	H>R		No	ClinGen Ensembl
CA6680210 rs773791574	184	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6680214 rs201286931	185	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6680212 rs771534631	185	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6680213 rs771534631	185	P>T		No	ClinGen ExAC TOPMed gnomAD
CA6680216 rs776085643	187	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1593075546 CA385718387	190	E>G		No	ClinGen Ensembl
CA385718972 rs1416126951	193	V>I		No	ClinGen TOPMed
CA385718994 rs1171824819	196	Y>C		No	ClinGen TOPMed
CA238521119 rs1048736643	199	T>I		No	ClinGen TOPMed
rs530556545 CA238521121	201	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA238521123 rs530556545	201	G>V		No	ClinGen 1000Genomes
CA6680239 rs146946903	202	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6680238 rs146946903	202	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA238521132 rs1024865030	203	Q>L		No	ClinGen TOPMed
rs776372941 CA6680242	206	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769491241 CA6680241	206	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	208	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385719069 rs1222132585	208	N>S		No	ClinGen TOPMed
CA6680243 rs371505814	209	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs61754564 CA6680244	209	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6680245 rs61754564	209	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs762438680 CA6680246	210	T>P		No	ClinGen ExAC gnomAD
rs766371787 CA6680248	212	V>L		No	ClinGen ExAC gnomAD
rs766371787 CA6680247	212	V>M		No	ClinGen ExAC gnomAD
rs759339595 CA6680249	213	H>R		No	ClinGen ExAC TOPMed gnomAD
CA385719102 rs1337277608	214	V>I		No	ClinGen gnomAD
rs1231507832 CA385719108	215	P>S		No	ClinGen gnomAD
rs1231507832 CA385719106	215	P>T		No	ClinGen gnomAD
CA6680250 rs367732441	216	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6680252 rs756339136	218	A>T		No	ClinGen ExAC TOPMed gnomAD
CA238521172 rs1022465457	218	A>V		No	ClinGen TOPMed gnomAD
rs779572790 CA6680256	220	V>G		No	ClinGen ExAC
CA6680255 rs757336654	220	V>I		No	ClinGen ExAC gnomAD
rs772522445 CA6680258	223	A>P		No	ClinGen ExAC gnomAD
rs772522445 CA238521188	223	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6680260 rs747379608	226	S>C		No	ClinGen ExAC gnomAD
rs547186968 CA6680261	226	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA238521204 CA6680262 rs772848282	226	S>R		No	ClinGen ExAC gnomAD
CA6680264 rs770370050	227	T>I		No	ClinGen ExAC gnomAD
rs762455215 CA6680263	227	T>P		No	ClinGen ExAC gnomAD
CA385719185 rs1427585564	228	P>S		No	ClinGen TOPMed
rs774302735 CA6680265	229	K>E		No	ClinGen ExAC TOPMed gnomAD
rs759430968 CA6680266	230	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1292677184 CA385719214	232	P>R		No	ClinGen gnomAD
rs201270168 CA6680267	232	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA385719217 rs1308170755	233	S>G		No	ClinGen gnomAD
rs1229462106 CA385719228	234	S>T		No	ClinGen TOPMed gnomAD
CA238521218 rs919477095	235	I>V		No	ClinGen Ensembl
rs760511357 CA6680271	236	E>A		No	ClinGen ExAC TOPMed gnomAD
rs61759369 CA6680269	236	E>K		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs760511357 CA385719241	236	E>V		No	ClinGen ExAC TOPMed gnomAD
CA385719246 rs1565786437	237	D>Y		No	ClinGen Ensembl
CA385719252 rs1259139081	238	R>G		No	ClinGen TOPMed
rs912849172 CA238521225	238	R>T		No	ClinGen TOPMed gnomAD
CA238521229 rs985017797	240	P>L		No	ClinGen Ensembl
rs764413571 CA6680272	240	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754052591 CA6680273	241	Q>H		No	ClinGen ExAC gnomAD
CA6680275 rs765372303	244	L>H		No	ClinGen ExAC gnomAD
CA385719387 rs1429798560	250	K>R		No	ClinGen TOPMed gnomAD
CA385719386 rs1429798560	250	K>T		No	ClinGen TOPMed gnomAD
CA238521239 rs909365419	251	F>V		No	ClinGen Ensembl
CA238521243 rs374330096	252	V>F		No	ClinGen Ensembl
rs1378536486 CA385719418	253	L>S		No	ClinGen TOPMed
CA385719447 rs1371813695	256	T>A		No	ClinGen gnomAD
CA385719452 rs1461975272	256	T>I		No	ClinGen gnomAD
CA6680277 rs758881150	260	K>R		No	ClinGen ExAC gnomAD
rs780600916 CA6680278	263	M>T		No	ClinGen ExAC gnomAD
rs747402222 CA6680279	264	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	267	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6680280 rs755305017	268	L>P		No	ClinGen ExAC TOPMed gnomAD
CA238521270 rs943493754	271	L>P		No	ClinGen gnomAD
TCGA novel	271	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748890213 CA6680282	273	R>K		No	ClinGen ExAC TOPMed gnomAD
CA238521276 rs371589617	274	D>N		No	ClinGen ESP TOPMed
rs780938687 CA6680283	275	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA385719723 rs1593079342	277	S>R		No	ClinGen Ensembl
CA385719739 rs1282106130	278	G>A		No	ClinGen gnomAD
CA385719766 rs1480984247	280	G>E		No	ClinGen gnomAD
CA6680284 rs773898560	280	G>R		No	ClinGen ExAC gnomAD
rs1439259074 CA385719787	282	N>K		No	ClinGen gnomAD
CA6680285 rs745369949	282	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA385719824 rs1486664923	285	E>D		No	ClinGen gnomAD
CA385719827 rs771968641	286	W>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	286	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6680286 rs771968641	286	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1260516435 CA385719851	289	G>D		No	ClinGen gnomAD
rs1260516435 CA385719853	289	G>V		No	ClinGen gnomAD
rs1449323007 CA385719859	290	Y>C		No	ClinGen gnomAD
CA385719875 rs1194818886	292	S>N		No	ClinGen gnomAD
CA238521293 rs1048144608	295	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1433286334 CA385719895	295	R>Q		No	ClinGen TOPMed gnomAD
rs1173454176 CA385719923	299	P>R		No	ClinGen gnomAD
rs1565786812 CA385719921	299	P>S		No	ClinGen Ensembl
rs933292931 CA238521299	300	S>P		No	ClinGen Ensembl
rs1177038624 CA385719932	301	V>I		No	ClinGen TOPMed
CA238521303 rs886916698	302	N>K		No	ClinGen TOPMed
rs1455589154 CA385719940	302	N>S		No	ClinGen gnomAD
VAR_046966 CA238521306 rs12580717	303	K>N		No	ClinGen UniProt Ensembl dbSNP
CA238521309 rs1050975051	305	V>A		No	ClinGen Ensembl
rs1287181147 CA385719955	305	V>M		No	ClinGen gnomAD
CA6680290 rs777028385	306	Y>C	Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs892343611 CA238521315	312	L>P		No	ClinGen Ensembl
rs750528783 CA6680294	318	S>T		No	ClinGen ExAC gnomAD
rs1318349224 CA385720054	320	V>F		No	ClinGen gnomAD
CA385720062 rs1213222814	321	R>T		No	ClinGen gnomAD
rs550828203 CA238521326	324	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA6680296 rs758502066	324	R>H		No	ClinGen ExAC TOPMed gnomAD
CA385720090 rs1387427153	326	T>K		No	ClinGen gnomAD
CA385720117 rs1309866637	330	T>S		No	ClinGen TOPMed
CA385720128 rs1390676939	332	D>A		No	ClinGen TOPMed
rs1453174527 CA385720126	332	D>Y		No	ClinGen gnomAD
CA385720157 rs1295015077	336	I>N		No	ClinGen TOPMed
CA6680299 rs755320559	336	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1355695534 CA385720185	340	A>S		No	ClinGen gnomAD
CA385720207 rs1363249404	343	R>T		No	ClinGen gnomAD
CA385720249 rs1328053353	349	Y>C		No	ClinGen gnomAD
CA385720246 rs1364528018	349	Y>H		No	ClinGen TOPMed
CA385720302 rs1392172183	357	P>H		No	ClinGen gnomAD
rs369512504 CA6680304	359	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1375275794 CA385720330	361	A>V		No	ClinGen gnomAD
rs187299511 CA6680305	362	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs187299511 CA385720334	362	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775308985 CA6680306	362	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA238521353 rs775308985	362	R>L		No	ClinGen ExAC TOPMed gnomAD
CA385720335 rs775308985	362	R>P		No	ClinGen ExAC TOPMed gnomAD
CA385720346 rs1316739090	364	L>P		No	ClinGen gnomAD
CA238521356 rs1034730582	364	L>V		No	ClinGen TOPMed
rs768688491 CA6680308	367	D>G		No	ClinGen ExAC gnomAD
CA385720367 rs768688491	367	D>V		No	ClinGen ExAC gnomAD
CA6680309 rs776621252	368	E>A		No	ClinGen ExAC gnomAD
TCGA novel	368	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1221477791 CA385720383	369	D>E		No	ClinGen gnomAD
rs1233748877 CA385720397	371	N>S		No	ClinGen gnomAD
CA385720418 rs1175659684	374	P>L		No	ClinGen gnomAD
rs1013221115 CA238521379	375	K>E		No	ClinGen TOPMed gnomAD
CA385720425 rs1411467996	375	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1013221115 CA238521376	375	K>Q		No	ClinGen TOPMed gnomAD
rs756070543 CA238521382	376	T>I		No	ClinGen TOPMed gnomAD
CA385720426 rs1593080242	376	T>P		No	ClinGen Ensembl
TCGA novel	377	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	381	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762956505 CA6680313	382	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs200715711 CA6680312	382	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766434579 CA6680314	383	H>D		No	ClinGen ExAC gnomAD
CA6680315 rs752037897	383	H>R		No	ClinGen ExAC gnomAD
CA385720476 rs1457394241	384	N>D		No	ClinGen gnomAD
CA6680316 rs760085317	385	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs767997912 CA6680317	386	L>I		No	ClinGen ExAC TOPMed gnomAD
CA385720503 rs1355686269	388	P>A		No	ClinGen gnomAD
CA6680318 rs375527184	388	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA238521412 rs778440805 CA6680320	389	M>L		No	ClinGen ExAC TOPMed gnomAD
rs778440805 CA6680321	389	M>V		No	ClinGen ExAC TOPMed gnomAD
rs757873308 CA6680322	391	N>S		No	ClinGen ExAC gnomAD
CA238521420 rs749215723	393	V>I		No	ClinGen Ensembl
rs372662720 CA6680325	401	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1251621048 CA385720593	402	A>T		No	ClinGen gnomAD
CA385720600 rs1486083363	403	S>G		No	ClinGen gnomAD
rs1177307615 CA385720604	403	S>N		No	ClinGen TOPMed
CA385720608 rs1190348118	404	A>P		No	ClinGen gnomAD
CA238521430 rs977611851	405	H>Q		No	ClinGen TOPMed
CA385720620 rs1420684990	406	K>Q		No	ClinGen gnomAD
rs781274920 CA6680326	407	I>M		No	ClinGen ExAC gnomAD
rs747962982 CA6680327	409	Y>H		No	ClinGen ExAC gnomAD
CA6680328 rs769656225	411	R>G		No	ClinGen ExAC gnomAD
CA6680329 rs773329122	412	R>C		No	ClinGen ExAC TOPMed gnomAD
rs34097404 CA6680330	412	R>H		No	ClinGen ExAC gnomAD
rs777150070 CA6680331	413	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs112443855 CA238521447	413	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs759605335 CA6680333	414	D>E		No	ClinGen ExAC TOPMed gnomAD
CA238521457 rs200964541	415	C>R		No	ClinGen Ensembl
CA6680334 rs189315944	416	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377368151 CA6680335	416	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs761048105 CA6680336	417	P>L		No	ClinGen ExAC gnomAD
CA6680337 rs764475417	418	T>A		No	ClinGen ExAC gnomAD
rs760336153 CA6680338	418	T>I		No	ClinGen ExAC gnomAD
rs760336153 CA385720693	418	T>K		No	ClinGen ExAC gnomAD
CA385720691 rs764475417	418	T>P		No	ClinGen ExAC gnomAD
CA385720698 rs1213240013	419	V>A		No	ClinGen gnomAD
rs751184690 CA6680341	422	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1193981084 CA385720736	424	I>T		No	ClinGen gnomAD
CA6680342 rs375588784	426	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs945337284 CA238521496	426	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377766786 CA6680344	427	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs769742834 CA6680345	431	H>R		No	ClinGen ExAC gnomAD
TCGA novel	431	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA238521506 rs1044013026	434	L>V		No	ClinGen Ensembl
rs777663604 CA6680346	437	I>V		No	ClinGen ExAC gnomAD
CA238521515 rs74680243	439	V>A		No	ClinGen Ensembl
CA6680347 rs749023113	439	V>I		No	ClinGen ExAC TOPMed gnomAD
CA238521517 rs903698740	440	D>E		No	ClinGen TOPMed gnomAD
rs937809321 CA238521520	441	L>S		No	ClinGen gnomAD
CA6680348 rs771251692	443	G>D		No	ClinGen ExAC gnomAD
rs1405052593 CA385720870	444	G>V		No	ClinGen TOPMed
CA385720879 rs1303926194	446	D>N		No	ClinGen TOPMed
TCGA novel	447	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385720896 rs1236930736	448	D>G		No	ClinGen gnomAD
VAR_046967 CA238521527 rs35232109	449	N>D		No	ClinGen UniProt Ensembl dbSNP
rs774367608 CA6680349	449	N>K		No	ClinGen ExAC gnomAD
rs745958541 CA6680350	451	Q>R		No	ClinGen ExAC gnomAD
CA385720941 rs1469676385	455	T>A		No	ClinGen TOPMed
CA385720945 rs1286356754	455	T>M		No	ClinGen gnomAD
CA6680351 rs772087017	456	P>S		No	ClinGen ExAC gnomAD
rs1469803897 CA385720952	457	T>A		No	ClinGen TOPMed gnomAD
rs1469803897 CA385720953	457	T>S		No	ClinGen TOPMed gnomAD
CA385720958 rs1191500810	458	T>A		No	ClinGen gnomAD
CA385720967 rs764482280	459	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6680354 rs764482280	459	P>R		No	ClinGen ExAC TOPMed gnomAD
CA238521545 rs770509561	464	P>A		No	ClinGen Ensembl
rs1191186994 CA385720998	464	P>L		No	ClinGen TOPMed
rs1405113717 CA385720999	465	T>A		No	ClinGen gnomAD
CA6680356 rs762081662	467	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs553157262 CA6680357	467	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs751201068 CA6680358	468	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	469	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6680360 rs767096357	470	L>R		No	ClinGen ExAC gnomAD
rs777566936 CA6680363	472	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6680365 rs756943704	473	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1200267811 CA385721057	474	I>M		No	ClinGen TOPMed
CA385721072 rs181005887	476	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385721067 rs1227837050	476	I>V		No	ClinGen gnomAD
CA238521553 rs374895197	477	E>K		No	ClinGen ESP TOPMed
CA238521558 rs1026016008	482	M>V		No	ClinGen gnomAD
CA6680367 rs367555797	484	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6680368 rs367555797	484	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA238521565 rs74840615	486	Q>K		No	ClinGen Ensembl
CA385721156 rs1452583357	489	L>P		No	ClinGen TOPMed
CA385721472 rs1472095265	491	R>*		No	ClinGen gnomAD
rs1381179342 CA385721476	492	D>H		No	ClinGen TOPMed
rs769276472 CA6680371	493	D>N		No	ClinGen ExAC gnomAD
CA385721496 rs1419401241	494	G>V		No	ClinGen gnomAD
rs778666669 CA238521572	502	N>S		No	ClinGen Ensembl
CA385721556 rs1333841340	503	S>T		No	ClinGen TOPMed
CA385721566 rs1396119411	505	D>Y		No	ClinGen TOPMed
CA238521579 rs894438909	508	M>I		No	ClinGen TOPMed
CA238521576 rs1016897696	508	M>L		No	ClinGen Ensembl
CA238521582 rs17851899	509	M>L		No	ClinGen gnomAD

No associated diseases with Q8WU20

8 regional properties for Q8WU20

Type	Name	Position	InterPro Accession
domain	Kazal domain	117 - 166	IPR002350-1
domain	Kazal domain	190 - 241	IPR002350-2
domain	Kazal domain	261 - 318	IPR002350-3
domain	Follistatin-like, N-terminal	94 - 117	IPR003645-1
domain	Follistatin-like, N-terminal	167 - 190	IPR003645-2
domain	Follistatin-like, N-terminal	244 - 268	IPR003645-3
domain	Follistatin/Osteonectin EGF domain	95 - 116	IPR015369
domain	TB domain	30 - 91	IPR017878

Functions

		Description
EC Number
Subcellular Localization	Endomembrane system	Cytoplasmic, membrane-bound
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endomembrane system	A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles.
integral component of plasma membrane	The component of the plasma 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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
fibroblast growth factor receptor binding	Binding to a fibroblast growth factor receptor (FGFR).
neurotrophin TRKA receptor binding	Binding to a neurotrophin TRKA receptor.
phosphatase activator activity	Binds to and increases the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule.
transmembrane receptor protein tyrosine kinase adaptor activity	The binding activity of a molecule that brings together a transmembrane receptor protein tyrosine kinase and one or more other molecules, permitting them to function in a coordinated way.

19 GO annotations of biological process

Name	Definition
anterior/posterior axis specification, embryo	The specification of the anterior/posterior axis of the embryo by the products of genes expressed maternally and genes expressed in the zygote.
fibroblast growth factor receptor signaling pathway	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands.
forebrain development	The process whose specific outcome is the progression of the forebrain over time, from its formation to the mature structure. The forebrain is the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions).
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
gastrulation with mouth forming second	A gastrulation process in which the initial invagination becomes the anus and the mouth forms second.
lens fiber cell development	The process whose specific outcome is the progression of a lens fiber cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a lens fiber cell fate. A lens fiber cell is any of the elongated, tightly packed cells that make up the bulk of the mature lens in a camera-type eye.
lens placode formation involved in camera-type eye formation	Establishment and formation of the optic placode, paired ectodermal placodes that become invaginated to form the embryonic lens vesicles.
negative regulation of cardiac muscle cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation.
neuroblast proliferation	The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron.
organ induction	The interaction of two or more cells or tissues that causes them to change their fates and specify the development of an organ.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of vascular associated smooth muscle cell proliferation	Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation.
prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	The branching morphogenesis process in which the prostate epithelial cords branch freely to create the structure of the prostate acini.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of epithelial cell proliferation	Any process that modulates the frequency, rate or extent of epithelial cell proliferation.
regulation of ERK1 and ERK2 cascade	Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
transmembrane receptor protein tyrosine phosphatase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses protein tyrosine phosphatase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
ventricular septum development	The progression of the ventricular septum over time from its formation to the mature structure.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O43559	FRS3	Fibroblast growth factor receptor substrate 3	Homo sapiens (Human)	PR
Q91WJ0	Frs3	Fibroblast growth factor receptor substrate 3	Mus musculus (Mouse)	PR
Q8C180	Frs2	Fibroblast growth factor receptor substrate 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGSCCSCPDK	DTVPDNHRNK	FKVINVDDDG	NELGSGIMEL	TDTELILYTR	KRDSVKWHYL
70	80	90	100	110	120
CLRRYGYDSN	LFSFESGRRC	QTGQGIFAFK	CARAEELFNM	LQEIMQNNSI	NVVEEPVVER
130	140	150	160	170	180
NNHQTELEVP	RTPRTPTTPG	FAAQNLPNGY	PRYPSFGDAS	SHPSSRHPSV	GSARLPSVGE
190	200	210	220	230	240
ESTHPLLVAE	EQVHTYVNTT	GVQEERKNRT	SVHVPLEARV	SNAESSTPKE	EPSSIEDRDP
250	260	270	280	290	300
QILLEPEGVK	FVLGPTPVQK	QLMEKEKLEQ	LGRDQVSGSG	ANNTEWDTGY	DSDERRDAPS
310	320	330	340	350	360
VNKLVYENIN	GLSIPSASGV	RRGRLTSTST	SDTQNINNSA	QRRTALLNYE	NLPSLPPVWE
370	380	390	400	410	420
ARKLSRDEDD	NLGPKTPSLN	GYHNNLDPMH	NYVNTENVTV	PASAHKIEYS	RRRDCTPTVF
430	440	450	460	470	480
NFDIRRPSLE	HRQLNYIQVD	LEGGSDSDNP	QTPKTPTTPL	PQTPTRRTEL	YAVIDIERTA
490	500
AMSNLQKALP	RDDGTSRKTR	HNSTDLPM