AiPD: Autoinhibited Protein Database

O94868

Gene name	FCHSD2 (KIAA0769, SH3MD3)
Protein name	F-BAR and double SH3 domains protein 2
Names	Carom, Protein nervous wreck 1, NWK1, SH3 multiple domains protein 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9873
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-77 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-77 (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

4 structures for O94868

Entry ID	Method	Resolution	Chain	Position	Source
2DL5	NMR	-	A	466-530	PDB
2DL7	NMR	-	A	569-628	PDB
6GBU	X-ray	344 A	A/C/E/G	567-629	PDB
AF-O94868-F1	Predicted				AlphaFoldDB

489 variants for O94868

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs764999746 CA6176109	2	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA381967859 rs1406057401	3	P>L		No	ClinGen TOPMed
rs1012704475 CA224744834	4	P>L		No	ClinGen TOPMed
CA381967844 rs1381193033	5	P>L		No	ClinGen gnomAD
rs1245512923 CA381967567	9	K>*		No	ClinGen TOPMed
rs1445835820 CA381967565	9	K>T		No	ClinGen TOPMed
rs1591587779 CA381967559	10	V>F		No	ClinGen Ensembl
rs753650296 CA224743506	11	T>I		No	ClinGen TOPMed gnomAD
CA224743503 rs925130690	13	E>D		No	ClinGen Ensembl
rs1395747250 CA381967511	15	K>E		No	ClinGen gnomAD
rs1565110053 CA381967499	16	N>S		No	ClinGen Ensembl
rs774404890 CA224743496	21	Q>R		No	ClinGen Ensembl
CA381967435 rs1170563386	22	M>V		No	ClinGen gnomAD
rs1391489459 CA381967423	23	T>A		No	ClinGen gnomAD
CA381967361 rs1477152190	28	K>R		No	ClinGen gnomAD
rs1426451027 CA381967327	31	A>G		No	ClinGen TOPMed gnomAD
CA6176097 rs774420498	33	C>Y		No	ClinGen ExAC TOPMed
rs1428609468 CA381967295	34	D>A		No	ClinGen gnomAD
COSM219206 rs768861504 CA6176096	36	L>F	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA381967272 rs1443952210	36	L>P		No	ClinGen TOPMed
CA381967251 rs1591587699	38	D>V		No	ClinGen Ensembl
CA381967239 rs1189171072	39	M>L		No	ClinGen gnomAD
CA224743490 rs191350191	39	M>T		No	ClinGen 1000Genomes
TCGA novel	41	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224706635 rs867193410	46	K>R		No	ClinGen Ensembl
rs1456278990 CA381967001	49	I>V		No	ClinGen TOPMed gnomAD
rs1344461939 CA381966946	53	Y>C		No	ClinGen gnomAD
CA381966951 rs1157549175	53	Y>H		No	ClinGen TOPMed
rs763185978 CA6176073	56	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6176071 rs770680422	62	S>G		No	ClinGen ExAC gnomAD
CA6176070 rs746866405	63	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1280562098 CA381966887	65	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1202261592 CA381966867	68	D>G		No	ClinGen TOPMed gnomAD
CA6176067 rs748068558	68	D>N		No	ClinGen ExAC gnomAD
rs778441137 CA6176066	72	V>I		No	ClinGen ExAC gnomAD
rs374746074 CA6176065	75	D>H		No	ClinGen ESP ExAC gnomAD
CA6176063 rs569167163	77	R>Q	Variant assessed as Somatic; 4.636e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs536621200 CA6176064	77	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756530486 CA6176062	79	D>E		No	ClinGen ExAC gnomAD
rs971977909 CA224681879	80	Y>N		No	ClinGen Ensembl
TCGA novel	82	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	83	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341367344 CA381966753	83	M>V		No	ClinGen TOPMed
rs1411715659 CA381966739	84	Y>*		No	ClinGen gnomAD
CA6176050 rs771880379	85	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6176051 rs771880379	85	P>S		No	ClinGen ExAC TOPMed gnomAD
rs774197870 CA6176048	86	V>F		No	ClinGen ExAC TOPMed gnomAD
rs774197870 CA381966732	86	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	87	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	87	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6176047 rs768211303	89	S>C		No	ClinGen ExAC gnomAD
CA6176045 rs779720891	92	E>K		No	ClinGen ExAC gnomAD
CA6176044 rs755756437	95	M>I		No	ClinGen ExAC gnomAD
rs868773192 CA224656872	96	Q>*		No	ClinGen Ensembl
CA381966641 rs1431239847	99	Q>P		No	ClinGen TOPMed gnomAD
rs1591472620 CA381966630	101	R>Q		No	ClinGen Ensembl
CA6176042 rs781648537	101	R>W		No	ClinGen ExAC gnomAD
rs867922056 CA224656862	103	N>S		No	ClinGen gnomAD
CA6176041 rs757611645	104	I>T		No	ClinGen ExAC gnomAD
CA381966605 rs1591472608	105	C>R		No	ClinGen Ensembl
CA6176038 rs758959599	110	N>D		No	ClinGen ExAC gnomAD
CA6176037 rs368880489	110	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6176036 rs368880489	110	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	110	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759707087 CA6176035	111	F>C		No	ClinGen ExAC gnomAD
CA224656807 rs752348294	113	S>T		No	ClinGen Ensembl
rs1444341067 CA381966528	116	A>S		No	ClinGen gnomAD
CA381966517 rs1355071534	117	R>S		No	ClinGen gnomAD
CA381966509 rs1333533975	119	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	120	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776890422 CA6176034	121	S>N		No	ClinGen ExAC gnomAD
rs879217231 CA224656761	122	L>*		No	ClinGen Ensembl
CA381966488 rs1441542217	122	L>V		No	ClinGen TOPMed
CA224656735 rs563132107	127	L>Q		No	ClinGen 1000Genomes gnomAD
rs761582611 CA6176032	128	K>R		No	ClinGen ExAC gnomAD
CA381966437 rs1179433546	129	R>K		No	ClinGen gnomAD
CA6176030 rs768416463	129	R>S		No	ClinGen ExAC gnomAD
rs773948336 CA6176014	130	C>R		No	ClinGen ExAC gnomAD
rs1357415883 CA381966387	134	L>F		No	ClinGen gnomAD
CA6176013 rs763975906	136	K>E		No	ClinGen ExAC gnomAD
CA381966373 rs1399505255	136	K>N		No	ClinGen gnomAD
rs775616333 CA6176011	140	E>A		No	ClinGen ExAC gnomAD
CA381966335 rs1463436033	142	Q>*		No	ClinGen gnomAD
CA224647358 rs964678928	143	E>G		No	ClinGen Ensembl
rs371294708 CA224647357	146	K>R		No	ClinGen ESP TOPMed
COSM931779 CA381966301 rs1187975439	147	D>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1427414707 CA381966295	148	L>I		No	ClinGen gnomAD
rs1259227950 CA381966292	148	L>S		No	ClinGen gnomAD
CA224647356 rs1011265026	149	A>D		No	ClinGen TOPMed gnomAD
rs145068964 CA224647351	150	K>E		No	ClinGen ESP gnomAD
CA6176009 rs184438309	151	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1211625843 CA381966274	151	G>D		No	ClinGen TOPMed gnomAD
CA381966272 rs1211625843	151	G>V		No	ClinGen TOPMed gnomAD
rs1591461860 CA381966267	152	K>R		No	ClinGen Ensembl
CA381966254 rs1273756488	154	K>E		No	ClinGen gnomAD
rs1305893399 CA381966238	156	F>L		No	ClinGen gnomAD
rs1297964215 CA381966232	156	F>L		No	ClinGen gnomAD
rs770425427 CA6176007	160	Q>H		No	ClinGen ExAC gnomAD
CA224647328 rs111288078	161	M>V		No	ClinGen Ensembl
rs1367205405 CA381966192	162	A>S		No	ClinGen gnomAD
rs141289190 CA224647313	162	A>V		No	ClinGen ESP
CA6176005 rs777951527	163	H>L		No	ClinGen ExAC TOPMed gnomAD
CA381966166 rs1395770621	164	A>E		No	ClinGen gnomAD
rs1461032422 CA381966146	166	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA381966144 rs1370891890	166	R>Q		No	ClinGen gnomAD
CA381966114 rs1172050567	168	K>R		No	ClinGen gnomAD
TCGA novel	170	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376378652 CA381966062	171	I>M		No	ClinGen TOPMed
CA6176003 rs748626464	171	I>V		No	ClinGen ExAC gnomAD
rs1455400225 CA381965800	175	S>P		No	ClinGen gnomAD
rs1395497646 CA381965777	178	S>T		No	ClinGen gnomAD
rs1010615317 CA224644052	181	Q>R		No	ClinGen Ensembl
rs750676450 CA6175994	183	R>I		No	ClinGen ExAC TOPMed gnomAD
CA381965734 rs1378496269	184	I>M		No	ClinGen TOPMed
rs1201240011 CA381965739	184	I>V		No	ClinGen TOPMed
rs1435954776 CA381965728	185	S>I		No	ClinGen gnomAD
CA381965695 rs1196385581	190	S>G		No	ClinGen gnomAD
rs148410888 CA6175993	191	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381965679 rs1477568165	192	K>R		No	ClinGen TOPMed
CA381965640 rs1386918196	196	R>Q		No	ClinGen TOPMed gnomAD
CA381965641 rs1398736297	196	R>W		No	ClinGen gnomAD
CA224643275 rs921663371	197	R>Q		No	ClinGen gnomAD
rs933691043 CA224643262	198	S>F		No	ClinGen TOPMed
rs776251987 CA224643232	202	S>F		No	ClinGen Ensembl
rs1432017650 CA381965576	206	H>R		No	ClinGen TOPMed
rs146618245 CA6175973	206	H>Y		No	ClinGen ESP ExAC gnomAD
CA224643194 rs963539344	207	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs753862703 CA6175971	213	L>F		No	ClinGen ExAC gnomAD
CA6175970 rs377537934	216	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs377537934 CA6175969	216	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175967 rs767103870	218	A>V		No	ClinGen ExAC gnomAD
rs774655376 CA6175965	222	Q>R		No	ClinGen ExAC gnomAD
CA224643115 rs983372592	224	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs769026499 CA6175964	224	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381965454 rs1229718360	225	Y>C		No	ClinGen gnomAD
CA381965457 rs1289461926	225	Y>H		No	ClinGen gnomAD
rs201284616 CA224643108	226	Y>C		No	ClinGen 1000Genomes
CA381965404 rs1428273887	232	N>S		No	ClinGen gnomAD
rs749733650 CA6175963	234	M>V		No	ClinGen ExAC gnomAD
rs373410364 CA6175962	235	K>Q		No	ClinGen ESP ExAC gnomAD
CA381966154 rs1433041677	238	D>N		No	ClinGen gnomAD
rs185931366 CA381966133	239	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs1377534175 CA381966141	239	G>R		No	ClinGen gnomAD
rs185931366 CA224603112	239	G>V		No	ClinGen 1000Genomes gnomAD
CA381966121 rs1400503361	240	N>S		No	ClinGen gnomAD
rs1406405272 CA381966113	241	V>M		No	ClinGen TOPMed gnomAD
rs775846547 CA6175940	242	Y>C		No	ClinGen ExAC gnomAD
CA381966083 rs1473267759	243	D>G		No	ClinGen gnomAD
CA381966071 rs1186628639	244	H>P		No	ClinGen gnomAD
CA381966073 rs1251964830	244	H>Y		No	ClinGen gnomAD
rs746365924 CA6175938	251	A>D		No	ClinGen ExAC gnomAD
CA224603094 rs770278647	251	A>S		No	ClinGen ExAC TOPMed gnomAD
rs770278647 CA6175939	251	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM281123 rs776804802 CA6175937	254	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1225444368 CA381965971	254	R>W		No	ClinGen gnomAD
rs771184875 CA6175936	259	T>S		No	ClinGen ExAC gnomAD
rs778208705 CA6175934	260	C>G		No	ClinGen ExAC gnomAD
rs369295273 CA6175933	260	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs749056876 CA6175932	262	A>T		No	ClinGen ExAC gnomAD
rs1343840182 CA381965915	263	V>L		No	ClinGen gnomAD
rs1464689774 CA381965884	267	F>L		No	ClinGen TOPMed gnomAD
rs756041954 CA6175930	267	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1565324042 CA381965875	268	Q>H		No	ClinGen Ensembl
rs1161370969 CA381965878	268	Q>R		No	ClinGen TOPMed
CA6175929 rs750378599	269	F>L		No	ClinGen ExAC gnomAD
CA6175928 rs143760818	271	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761438486 CA224603018	276	K>T		No	ClinGen Ensembl
rs148968336 CA6175909	279	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745771397 CA6175910	279	R>W		No	ClinGen ExAC gnomAD
rs777152337 CA6175906	280	D>E		No	ClinGen ExAC TOPMed gnomAD
rs751010690 CA6175907	280	D>G		No	ClinGen ExAC gnomAD
CA6175905 rs758027410	281	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6175903 rs765605002	282	N>S		No	ClinGen ExAC gnomAD
CA6175904 rs765605002	282	N>T		No	ClinGen ExAC gnomAD
TCGA novel	283	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760045838 CA6175902	284	Q>K		No	ClinGen ExAC gnomAD
CA224585637 rs1010470181	286	F>L		No	ClinGen TOPMed gnomAD
CA224585635 rs1031605261	287	L>F		No	ClinGen Ensembl
CA6175899 rs766938793 COSM931773	291	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs761270727 CA6175898	291	A>V		No	ClinGen ExAC gnomAD
rs1170161141 CA381965012	292	V>A		No	ClinGen gnomAD
CA224585600 rs149843295	294	H>N		No	ClinGen ESP TOPMed gnomAD
CA6175897 rs773389977	296	P>S		No	ClinGen ExAC gnomAD
CA381964982 rs1267973954	297	Q>K		No	ClinGen gnomAD
CA381964979 rs1195293655	297	Q>R		No	ClinGen gnomAD
CA381964961 rs201315056	299	F>L		No	ClinGen ExAC TOPMed gnomAD
CA381964954 CA6175893 rs139052840	300	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA381964943 rs1301655406	302	Q>*		No	ClinGen gnomAD
rs76555174 CA381964939	302	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381964945 rs1301655406	302	Q>K		No	ClinGen gnomAD
rs745718172 CA6175892	302	Q>R		No	ClinGen ExAC gnomAD
rs1306986639 CA381964938	303	P>A		No	ClinGen gnomAD
COSM1356857 CA381964933 rs1390308788	303	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	303	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381964929 rs1370588845	304	C>Y		No	ClinGen TOPMed gnomAD
rs144344315 CA6175890	306	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374505092 CA381964906	307	D>G		No	ClinGen gnomAD
CA381964909 rs1429936223	307	D>N		No	ClinGen gnomAD
CA381964900 rs1171446122	308	T>A		No	ClinGen gnomAD
CA6175865 rs754641064	309	S>R		No	ClinGen ExAC TOPMed gnomAD
rs367639909 CA6175864	310	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs578179442 CA6175863	314	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1477091005 CA381964439	320	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA381964429 rs1406036098	321	E>K		No	ClinGen gnomAD
rs1429337757 CA381964416	322	H>Q		No	ClinGen TOPMed gnomAD
CA381964415 rs1396021964	323	S>G		No	ClinGen gnomAD
CA381964398 rs1451696338	325	N>S		No	ClinGen TOPMed gnomAD
CA224576404 rs1020198544	329	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	330	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6175859 rs776167806 COSM400463	334	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1008373651 CA224576402	334	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	334	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381964321 rs1451745664	337	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6175858 rs757793948	337	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381964319 rs757793948	337	R>P		No	ClinGen ExAC gnomAD
rs1202645619 CA381964314	338	E>G		No	ClinGen gnomAD
rs61753292 CA381964267	344	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175857 rs140393712	344	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381964249 rs1283419020	347	R>Q		No	ClinGen TOPMed
CA6175855 rs763111268	347	R>W		No	ClinGen ExAC TOPMed gnomAD
CA381964111 rs779970508	348	V>F		No	ClinGen TOPMed gnomAD
CA224574951 rs779970508	348	V>I		No	ClinGen TOPMed gnomAD
CA224574938 rs368407877	350	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175838 rs368407877	350	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1313610827 CA381964086	352	L>Q		No	ClinGen TOPMed
rs752903498 CA224574905	354	C>F		No	ClinGen ExAC TOPMed gnomAD
rs142618697 CA6175836	354	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA224574914 rs142618697	354	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175835 rs752903498	354	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA381964071 rs1565306579	355	H>D		No	ClinGen Ensembl
CA381964068 rs1203584500	355	H>R		No	ClinGen TOPMed
CA6175834 rs148444805	357	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473318125 CA381964055	357	A>V		No	ClinGen gnomAD
rs1252080202 CA381964047	358	A>V		No	ClinGen gnomAD
CA381964022 rs1482085364	362	Q>R		No	ClinGen gnomAD
CA381964009 rs1238950831	364	R>*		No	ClinGen gnomAD
rs999723456 CA224574891	364	R>Q		No	ClinGen TOPMed gnomAD
rs1266225768 CA381963997	366	E>G		No	ClinGen gnomAD
CA6175832 rs750147178 COSM3703679	366	E>K	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs568144352 CA6175828	371	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	376	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	376	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303719342 CA381963908	378	I>T		No	ClinGen gnomAD
CA6175827 rs762606612	379	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775149903 CA6175826	379	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6175824 rs745563864	382	E>Q		No	ClinGen ExAC gnomAD
rs144631789 CA6175810	383	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	385	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224459852 rs767989113	390	A>V		No	ClinGen TOPMed gnomAD
CA6175808 rs775098553	391	R>Q		No	ClinGen ExAC gnomAD
rs1207667561 CA381787371	391	R>W		No	ClinGen gnomAD
CA381787352 rs1163398532	393	D>N		No	ClinGen TOPMed
rs759087153 CA6175806	396	K>E		No	ClinGen ExAC gnomAD
rs372956797 CA6175805	397	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs771186144 CA6175804	398	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6175803 rs747317511	400	V>I		No	ClinGen ExAC gnomAD
rs773571494 CA6175802	402	V>L		No	ClinGen ExAC gnomAD
CA381787232 rs1489542783	403	D>E		No	ClinGen TOPMed gnomAD
CA381787240 rs1189534694	403	D>G		No	ClinGen gnomAD
rs1266225015 CA381787230	404	T>P		No	ClinGen gnomAD
rs1340329610 CA381787213	405	W>*		No	ClinGen TOPMed gnomAD
rs772529496 CA6175801	408	S>N		No	ClinGen ExAC gnomAD
rs1299907243 CA381787135	410	M>T		No	ClinGen gnomAD
rs745363284 CA6175800	410	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6175798 rs755129334	414	M>T		No	ClinGen ExAC gnomAD
CA6175797 rs749471907	415	E>G		No	ClinGen ExAC gnomAD
rs146056703 CA6175795	417	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751329980 CA6175794	418	E>V		No	ClinGen ExAC gnomAD
CA381786980 rs1482710902	419	N>K		No	ClinGen TOPMed
rs764009065 CA6175793	420	E>V		No	ClinGen ExAC gnomAD
rs142899648 CA6175792	421	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6175790 rs764621173	424	R>C		No	ClinGen ExAC gnomAD
CA6175789 rs759152034	424	R>H		No	ClinGen ExAC gnomAD
CA381786911 rs759152034	424	R>P		No	ClinGen ExAC gnomAD
rs138320954 CA224459796	425	P>L		No	ClinGen ESP gnomAD
CA381786879 rs1483347992	427	A>S		No	ClinGen TOPMed
rs147085844 CA224459791	429	T>N		No	ClinGen 1000Genomes
CA6175787 rs765990301	430	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1450791981 CA381786811	432	G>A		No	ClinGen TOPMed
TCGA novel	433	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6175786 rs150417770	434	L>S		No	ClinGen ESP ExAC gnomAD
CA6175785 rs773518304	435	H>D		No	ClinGen ExAC gnomAD
CA381786780 rs773518304	435	H>Y		No	ClinGen ExAC gnomAD
rs140557765 CA6175783	436	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381786767 rs1294491034	436	S>P		No	ClinGen gnomAD
rs140557765 CA6175784	436	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6175759 rs781628927	439	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6175756 rs778603874	442	E>K		No	ClinGen ExAC TOPMed gnomAD
rs754893363 CA6175755	443	R>G		No	ClinGen ExAC gnomAD
CA6175753 COSM931771 rs779505143	445	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6175754 rs753766433	445	E>G		No	ClinGen ExAC TOPMed gnomAD
CA381784550 rs1447409185	447	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	448	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192006860 CA381784470	450	E>D		No	ClinGen TOPMed
CA381784456 rs755685122	451	D>G		No	ClinGen ExAC TOPMed gnomAD
CA6175751 rs755685122	451	D>V		No	ClinGen ExAC TOPMed gnomAD
CA6175750 rs750060498	453	M>I		No	ClinGen ExAC TOPMed gnomAD
CA224451991 rs368659761	453	M>T		No	ClinGen gnomAD
rs767103922 CA6175749	456	F>L		No	ClinGen ExAC gnomAD
CA381784336 rs576568698	457	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6175748 rs576568698	457	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1246677075 CA381784321	458	D>Y		No	ClinGen gnomAD
CA381784303 rs1430562407	459	S>R		No	ClinGen TOPMed
rs1383320156 CA381784294	459	S>T		No	ClinGen gnomAD
COSM1193326 rs201865960 CA6175747	463	P>R	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1465954944 CA381784247	463	P>T		No	ClinGen TOPMed
rs948619493 CA224451986	464	S>F		No	ClinGen Ensembl
rs1432763862 CA381784227	465	G>D		No	ClinGen gnomAD
TCGA novel	468	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1367276143 CA381784177	470	Y>D		No	ClinGen gnomAD
rs1591339055 CA381784142	473	T>I		No	ClinGen Ensembl
CA6175745 rs763496451	477	V>D		No	ClinGen ExAC gnomAD
rs1297753580 CA381784108	477	V>F		No	ClinGen TOPMed
CA6175744 rs775903756	478	Y>*		No	ClinGen ExAC gnomAD
CA381784102 rs1338733704	478	Y>N		No	ClinGen TOPMed
rs769990320 CA6175743	480	Y>C		No	ClinGen ExAC
CA381784069 rs1165257049	481	K>E		No	ClinGen gnomAD
rs1250694445 CA381783835	482	A>P		No	ClinGen gnomAD
rs1250694445 CA381783836	482	A>T		No	ClinGen gnomAD
CA6175727 rs763295534	484	Q>R		No	ClinGen ExAC gnomAD
rs143408886 CA6175724	488	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA381783747 rs1224216560	490	I>T		No	ClinGen gnomAD
CA381783754 rs1418643963	490	I>V		No	ClinGen TOPMed
rs1350099454 CA381783732	491	E>D		No	ClinGen gnomAD
rs760918779 CA6175721	492	E>D		No	ClinGen ExAC gnomAD
rs766613200 CA6175722	492	E>K		No	ClinGen ExAC
CA381783711 rs1408152166	493	H>Q		No	ClinGen TOPMed
rs1565283207 CA381783713	493	H>R		No	ClinGen Ensembl
rs1335864063 CA381783706	494	E>Q		No	ClinGen TOPMed
CA381783675 rs1412040828	497	E>K		No	ClinGen gnomAD
rs1333963278 CA381783590	504	M>T		No	ClinGen gnomAD
rs374946704 CA6175704	511	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs763139458 CA224450889	513	K>Q		No	ClinGen Ensembl
rs754434724 CA6175703	513	K>T		No	ClinGen ExAC TOPMed gnomAD
CA381783429 rs1408282822	516	Q>R		No	ClinGen gnomAD
CA381783411 rs1181054734	518	G>D		No	ClinGen gnomAD
CA6175702 rs766473899	526	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA6175701 rs760721519	527	F>S		No	ClinGen ExAC gnomAD
CA6175697 rs750274468	530	S>L		No	ClinGen ExAC gnomAD
rs1226930320 CA381783247	534	L>R		No	ClinGen TOPMed gnomAD
CA6175694 rs369975719	537	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA224450875 rs918639119	540	L>P		No	ClinGen Ensembl
rs1434955529 CA381783206	541	A>P		No	ClinGen gnomAD
rs1317887135 CA381783199	542	A>T		No	ClinGen gnomAD
rs200902127 CA224450872	545	S>N		No	ClinGen gnomAD
rs770462860 CA6175692	545	S>R		No	ClinGen ExAC gnomAD
rs777341564 CA6175690	546	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746447753 CA6175691	546	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6175689 rs528290577	549	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6175686 rs755459693	550	S>P		No	ClinGen ExAC gnomAD
rs958273250 CA224450866	553	S>C		No	ClinGen Ensembl
rs200023715 CA224450864	554	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs756645906 CA6175683	556	A>P		No	ClinGen ExAC gnomAD
CA6175684 rs756645906	556	A>T		No	ClinGen ExAC gnomAD
CA6175682 rs549243569	558	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA224450858 rs549243569	558	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6175679 rs530741137	559	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA6175680 rs762002880	559	V>I		No	ClinGen ExAC TOPMed gnomAD
rs563621415 CA6175678	562	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1383394081 CA381783065	564	N>S		No	ClinGen gnomAD
CA381783060 rs1292466689	565	G>R		No	ClinGen gnomAD
rs770707766 CA6175675	566	D>Y		No	ClinGen ExAC gnomAD
rs1247171291 CA381783046	567	A>T		No	ClinGen TOPMed
CA381783035 rs1163971431	568	S>N		No	ClinGen TOPMed gnomAD
CA381783032 rs772574751	568	S>R		No	ClinGen ExAC gnomAD
CA6175655 rs760497980	570	C>Y		No	ClinGen ExAC gnomAD
rs771693765 CA6175654	572	V>L		No	ClinGen ExAC TOPMed gnomAD
rs771693765 CA6175653	572	V>M		No	ClinGen ExAC TOPMed gnomAD
CA381782922 rs1462954187	579	E>K		No	ClinGen TOPMed
CA6175651 rs774000414	579	E>V		No	ClinGen ExAC gnomAD
rs768378654 CA6175650	584	D>E		No	ClinGen ExAC TOPMed gnomAD
CA381782849 rs1565282339	589	P>L		No	ClinGen Ensembl
CA381782826 rs1565282328	593	I>V		No	ClinGen Ensembl
rs895684977 CA224450795	594	I>V		No	ClinGen TOPMed
rs770238136 CA6175647	595	R>C		No	ClinGen ExAC
CA6175646 rs748017056	595	R>H		No	ClinGen ExAC TOPMed gnomAD
CA381782812 rs748017056	595	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6175645 rs781752775	596	I>T		No	ClinGen ExAC TOPMed gnomAD
rs949487223 CA224450791	599	K>E		No	ClinGen Ensembl
TCGA novel	600	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs990779969 CA224450788	603	D>V		No	ClinGen Ensembl
CA6175643 rs751572265	610	G>A		No	ClinGen ExAC TOPMed gnomAD
CA381782690 rs758595614	612	F>L		No	ClinGen ExAC TOPMed gnomAD
rs758595614 CA6175641	612	F>V		No	ClinGen ExAC TOPMed gnomAD
rs766081890 CA6175640	613	N>I		No	ClinGen ExAC TOPMed gnomAD
CA381782680 rs1365825253	613	N>K		No	ClinGen TOPMed gnomAD
rs766081890 CA6175639	613	N>S		No	ClinGen ExAC TOPMed gnomAD
rs755994711 CA6175638	615	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs147782509 CA6175636	615	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs147782509 CA6175637	615	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254664191 CA381782666	616	I>T		No	ClinGen gnomAD
CA381782633 rs773945981	621	S>*		No	ClinGen ExAC gnomAD
CA6175634 rs773945981	621	S>L		No	ClinGen ExAC gnomAD
CA381782635 rs1462176552	621	S>P		No	ClinGen gnomAD
CA381782616 rs1207569365	624	V>A		No	ClinGen gnomAD
rs1348080286 CA381782614	625	E>K		No	ClinGen gnomAD
CA6175632 rs762486252	628	S>A		No	ClinGen ExAC TOPMed gnomAD
CA6175630 rs373737720	638	M>T		No	ClinGen ESP ExAC gnomAD
rs1312689686 CA381782516	639	R>G		No	ClinGen gnomAD
CA224450776 rs570031472	640	E>Q		No	ClinGen Ensembl
CA6175629 rs746187247	641	I>N		No	ClinGen ExAC TOPMed
rs1165845178 CA381782355	645	P>L		No	ClinGen gnomAD
CA381782338 rs772469113	647	P>H		No	ClinGen ExAC gnomAD
rs772469113 CA6175607	647	P>R		No	ClinGen ExAC gnomAD
rs778888175 CA6175605	648	K>R		No	ClinGen ExAC gnomAD
CA6175604 rs755174406	650	H>D		No	ClinGen ExAC TOPMed gnomAD
CA224450600 rs879129590	650	H>P		No	ClinGen Ensembl
rs757189973 CA6175602	651	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6175601 rs757189973	651	A>T		No	ClinGen ExAC TOPMed gnomAD
CA224450598 rs76079323	652	S>P		No	ClinGen Ensembl
rs777798669 CA6175599	653	L>V		No	ClinGen ExAC gnomAD
CA6175598 rs141914231	654	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA381782274 rs1224404011	654	P>S		No	ClinGen gnomAD
CA224450594 rs909235479	655	P>L		No	ClinGen TOPMed gnomAD
rs144952535 CA381782259	656	L>V		No	ClinGen ESP TOPMed gnomAD
RCV000969610 rs114942058 CA6175597	657	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6175595 rs759205526	659	Y>C		No	ClinGen ExAC TOPMed
CA381782231 rs759205526	659	Y>S		No	ClinGen ExAC TOPMed
rs1591329541 CA381782218	660	D>A		No	ClinGen Ensembl
TCGA novel	660	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1270390793 CA381782206	661	Q>R		No	ClinGen TOPMed
rs1305228636 CA381782187	663	P>S		No	ClinGen gnomAD
rs1045315 CA224450588	665	S>T		No	ClinGen Ensembl
rs748678642 CA224450587	666	P>S		No	ClinGen gnomAD
CA6175593 rs766715895	667	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs373494327 CA6175594	667	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs772588181 CA6175590	668	P>L		No	ClinGen ExAC gnomAD
rs773569322 CA6175591	668	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1426747958 CA381782126	669	S>G		No	ClinGen gnomAD
CA6175587 CA381782097 rs369315223	671	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA224450580 rs928395165	671	D>G		No	ClinGen TOPMed
CA6175588 rs150767189	671	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175585 rs780485692	673	R>K		No	ClinGen ExAC gnomAD
CA381782067 rs1462778550	674	S>I		No	ClinGen TOPMed
rs1167719243 CA381782047	676	L>P		No	ClinGen TOPMed
rs1199908300 CA381782021	678	F>L		No	ClinGen gnomAD
CA224450573 rs1032843545	678	F>L		No	ClinGen Ensembl
rs555444484 CA381782002	680	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555444484 CA6175582	680	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6175583 rs746736841	680	R>W	Variant assessed as Somatic; 4.684e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA224450569 rs766720051	681	S>P		No	ClinGen TOPMed
CA381781980 rs1278133133	683	S>A		No	ClinGen gnomAD
rs199623106 CA6175579	683	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1278133133 CA381781983	683	S>T		No	ClinGen gnomAD
CA6175577 rs753359718	685	N>D		No	ClinGen ExAC gnomAD
rs903906046 CA224450564	685	N>S		No	ClinGen Ensembl
rs1218167332 CA381781901	686	E>G		No	ClinGen gnomAD
rs760347351 CA6175575	686	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381781878 rs1455802756	688	S>T		No	ClinGen gnomAD
CA6175547 rs759802802	689	L>F		No	ClinGen ExAC gnomAD
rs776775518 CA6175546	690	H>L		No	ClinGen ExAC TOPMed gnomAD
CA381781850 rs1201339654	691	A>S		No	ClinGen TOPMed
TCGA novel	691	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381781819 rs1477493896	694	P>A		No	ClinGen TOPMed
rs1170293565 CA381781804	695	G>V		No	ClinGen TOPMed
rs774231672 CA6175543	697	S>L		No	ClinGen ExAC TOPMed gnomAD
rs768527873 CA6175542	698	Q>R		No	ClinGen ExAC gnomAD
rs1360601398 COSM1356848 CA381781749	701	R>G	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6175539 rs201682261	702	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA6175540 rs779505229	702	H>Y		No	ClinGen ExAC
rs780653733 CA6175537	705	E>D		No	ClinGen ExAC gnomAD
CA6175538 rs745524855	705	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1422559933 CA381781677	707	S>L		No	ClinGen TOPMed gnomAD
CA6175535 rs751834736	708	Y>C		No	ClinGen ExAC gnomAD
rs202178689 CA224450422	709	G>D		No	ClinGen 1000Genomes
rs146015778 CA6175534	710	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs753298581 CA6175532	711	L>V		No	ClinGen ExAC gnomAD
CA6175531 rs765405062	712	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1268529129 CA381781630	712	R>Q		No	ClinGen TOPMed gnomAD
rs1273781772 CA381781147	715	R>Q		No	ClinGen TOPMed gnomAD
rs1210493218 CA381781148	715	R>W		No	ClinGen TOPMed
rs760772829 CA6175509	719	P>A		No	ClinGen ExAC TOPMed gnomAD
CA224449894 rs779305377	719	P>H		No	ClinGen ExAC TOPMed gnomAD
CA224449892 rs779305377	719	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779305377 CA6175508	719	P>R		No	ClinGen ExAC TOPMed gnomAD
rs760772829 CA381781126	719	P>T		No	ClinGen ExAC TOPMed gnomAD
CA381781111 rs1262001030	722	T>A		No	ClinGen TOPMed gnomAD
CA381781104 rs1221237766	723	Q>*		No	ClinGen gnomAD
rs769335561 CA6175506	724	N>*		No	ClinGen ExAC
rs200337344 CA6175507	724	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381781082 rs1591325329	726	R>*		No	ClinGen Ensembl
CA224449884 rs757495469	726	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA381781073 rs1369836611	727	R>S		No	ClinGen TOPMed
CA381781038 rs1299861945	732	I>M		No	ClinGen gnomAD
CA6175503 rs181961231	732	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	735	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405386501 CA381781016	735	V>G		No	ClinGen gnomAD
rs551040655 CA6175500	738	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA381780977 rs1430315662	741	V>C		No	ClinGen gnomAD

No associated diseases with O94868

7 regional properties for O94868

Type	Name	Position	InterPro Accession
domain	FCH domain	12 - 108	IPR001060
domain	SH3 domain	469 - 530	IPR001452-1
domain	SH3 domain	567 - 629	IPR001452-2
domain	F-BAR domain	8 - 282	IPR031160
domain	F-BAR and double SH3 domains protein 2, F-BAR domain	16 - 275	IPR034934
domain	FCHSD, SH3 domain 1	471 - 527	IPR035460
domain	FCHSD2, SH3 domain 2	571 - 626	IPR035556

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell junction Membrane, clathrin-coated pit Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cell projection, stereocilium	Partially localized at clathrin-coated pits at the cell membrane (PubMed:30249660) Detected at the cell membrane at sites around clathrin-coated pits, very close to the clathrin-coated pits but not an intrinsic part of the clathrin-coated pits (PubMed:29887380) Colocalizes at cell-cell contacts with CDH1, but is not detected at tight junctions (PubMed:14627983)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
clathrin-coated pit	A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes.
neuromuscular junction	The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
recycling endosome	An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.
stereocilium shaft	The shaft comprises the majority of the length of the stereocilium. This region is notable for the extreme stability of actin filaments, which are highly crosslinked into a parallel bundle.

2 GO annotations of molecular function

Name	Definition
phosphatidylinositol-3,4,5-trisphosphate binding	Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions.
phosphatidylinositol-3,4-bisphosphate binding	Binding to phosphatidylinositol-3,4-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 4' positions.

7 GO annotations of biological process

Name	Definition
clathrin-dependent endocytosis	An endocytosis process that begins when material is taken up into clathrin-coated pits, which then pinch off to form clathrin-coated endocytic vesicles.
membrane organization	A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.
neuromuscular synaptic transmission	The process of synaptic transmission from a neuron to a muscle, across a synapse.
positive regulation of actin filament polymerization	Any process that activates or increases the frequency, rate or extent of actin polymerization.
positive regulation of Arp2/3 complex-mediated actin nucleation	Any process that activates or increases the frequency, rate or extent of Arp2/3 complex-mediated actin nucleation.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of actin filament polymerization	Any process that modulates the frequency, rate or extent of the assembly of actin filaments by the addition of actin monomers to a filament.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7Z6B7	SRGAP1	SLIT-ROBO Rho GTPase-activating protein 1	Homo sapiens (Human)	PR
O75044	SRGAP2	SLIT-ROBO Rho GTPase-activating protein 2	Homo sapiens (Human)	PR
Q96RU3	FNBP1	Formin-binding protein 1	Homo sapiens (Human)	PR
Q5T0N5	FNBP1L	Formin-binding protein 1-like	Homo sapiens (Human)	PR
Q8CJ53	Trip10	Cdc42-interacting protein 4	Mus musculus (Mouse)	PR
Q91Z69	Srgap1	SLIT-ROBO Rho GTPase-activating protein 1	Mus musculus (Mouse)	PR
Q812A2	Srgap3	SLIT-ROBO Rho GTPase-activating protein 3	Mus musculus (Mouse)	PR
Q91Z67	Srgap2	SLIT-ROBO Rho GTPase-activating protein 2	Mus musculus (Mouse)	PR
Q80TY0	Fnbp1	Formin-binding protein 1	Mus musculus (Mouse)	PR
Q8K012	Fnbp1l	Formin-binding protein 1-like	Mus musculus (Mouse)	PR
Q6PFY1	Fchsd1	F-BAR and double SH3 domains protein 1	Mus musculus (Mouse)	PR
Q3USJ8	Fchsd2	F-BAR and double SH3 domains protein 2	Mus musculus (Mouse)	PR
D4A208	Srgap2	SLIT-ROBO Rho GTPase-activating protein 2	Rattus norvegicus (Rat)	PR
Q8R511	Fnbp1	Formin-binding protein 1	Rattus norvegicus (Rat)	PR
Q2HWF0	Fnbp1l	Formin-binding protein 1-like	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MQPPPRKVKV	TQELKNIQVE	QMTKLQAKHQ	AECDLLEDMR	TFSQKKAAIE	REYAQGMQKL
70	80	90	100	110	120
ASQYLKRDWP	GVKADDRNDY	RSMYPVWKSF	LEGTMQVAQS	RMNICENYKN	FISEPARTVR
130	140	150	160	170	180
SLKEQQLKRC	VDQLTKIQTE	LQETVKDLAK	GKKKYFETEQ	MAHAVREKAD	IEAKSKLSLF
190	200	210	220	230	240
QSRISLQKAS	VKLKARRSEC	NSKATHARND	YLLTLAAANA	HQDRYYQTDL	VNIMKALDGN
250	260	270	280	290	300
VYDHLKDYLI	AFSRTELETC	QAVQNTFQFL	LENSSKVVRD	YNLQLFLQEN	AVFHKPQPFQ
310	320	330	340	350	360
FQPCDSDTSR	QLESETGTTE	EHSLNKEARK	WATRVAREHK	NIVHQQRVLN	DLECHGAAVS
370	380	390	400	410	420
EQSRAELEQK	IDEARENIRK	AEIIKLKAEA	RLDLLKQIGV	SVDTWLKSAM	NQVMEELENE
430	440	450	460	470	480
RWARPPAVTS	NGTLHSLNAD	TEREEGEEFE	DNMDVFDDSS	SSPSGTLRNY	PLTCKVVYSY
490	500	510	520	530	540
KASQPDELTI	EEHEVLEVIE	DGDMEDWVKA	RNKVGQVGYV	PEKYLQFPTS	NSLLSMLQSL
550	560	570	580	590	600
AALDSRSHTS	SNSTEAELVS	GSLNGDASVC	FVKALYDYEG	QTDDELSFPE	GAIIRILNKE
610	620	630	640	650	660
NQDDDGFWEG	EFNGRIGVFP	SVLVEELSAS	ENGDTPWMRE	IQISPSPKPH	ASLPPLPLYD
670	680	690	700	710	720
QPPSSPYPSP	DKRSSLYFPR	SPSANEKSLH	AESPGFSQAS	RHTPETSYGK	LRPVRAAPPP
730
PTQNHRRPAE	KIEDVEITLV