AiPD: Autoinhibited Protein Database

Q7L8J4

Gene name	SH3BP5L (KIAA1720, UNQ2766/PRO7133)
Protein name	SH3 domain-binding protein 5-like
Names	SH3BP-5-like
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80851
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

12-84 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

12-84 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q7L8J4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7L8J4-F1	Predicted				AlphaFoldDB

329 variants for Q7L8J4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs769588073 CA1507610	6	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA1507609 rs747181039	7	V>F		No	ClinGen ExAC TOPMed gnomAD
rs747181039 CA345653061	7	V>L		No	ClinGen ExAC TOPMed gnomAD
CA345653042 rs780010067	10	G>E		No	ClinGen ExAC gnomAD
CA1507608 rs780010067	10	G>V		No	ClinGen ExAC gnomAD
rs1352328595 CA345653039	11	R>W		No	ClinGen TOPMed
TCGA novel	12	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144989621 CA40872569	13	T>I		No	ClinGen ESP TOPMed
rs758436296 CA1507607	14	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	14	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345653008 rs1454640798	16	G>R		No	ClinGen gnomAD
CA345652992 rs1209810742	18	L>Q		No	ClinGen TOPMed
rs779055462 CA1507605	18	L>V		No	ClinGen ExAC gnomAD
CA1507603 rs144387108	19	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3789797 CA1507604 rs757664033	19	R>W	Variant assessed as Somatic; 0.0002315 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs756570211 CA1507601	23	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1507600 rs753193337	24	E>G		No	ClinGen ExAC gnomAD
rs1235737963 CA345652962	24	E>Q		No	ClinGen gnomAD
rs766944133 CA1507599	28	P>S		No	ClinGen ExAC gnomAD
rs1454713194 CA345652909	31	P>L		No	ClinGen TOPMed
CA40872554 rs1051021090	32	V>G		No	ClinGen TOPMed
rs952748370 CA40872556	32	V>I		No	ClinGen Ensembl
rs1027084358 CA40872538 COSM907392	33	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1404200287 CA345652899	34	E>*		No	ClinGen TOPMed
TCGA novel	35	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1507597 rs145512568	35	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs766109906 CA1507596	36	P>H		No	ClinGen ExAC gnomAD
CA345652882 rs1433673699	36	P>S		No	ClinGen gnomAD
rs771249791 CA40872528	37	G>A		No	ClinGen gnomAD
CA345652865 rs1448806281	39	G>D		No	ClinGen TOPMed
rs201578023 CA1507595	39	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773137834 CA1507594	41	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs139521444 CA1507593	42	S>N		No	ClinGen ESP ExAC gnomAD
rs1418900674 CA345652832	44	S>N		No	ClinGen TOPMed gnomAD
rs776590152 CA1507591	47	K>I		No	ClinGen ExAC gnomAD
CA345652803 rs1192741012	48	L>S		No	ClinGen gnomAD
rs1181538185 CA345652794	49	S>F		No	ClinGen gnomAD
CA1507590 rs772064862	50	P>L		No	ClinGen ExAC TOPMed gnomAD
CA345652790 rs772064862	50	P>R		No	ClinGen ExAC TOPMed gnomAD
CA40872513 rs866195712	51	R>G		No	ClinGen gnomAD
TCGA novel	55	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345652728 rs1342318123	59	R>T		No	ClinGen TOPMed
rs199639534 CA1507536	62	E>G		No	ClinGen ExAC gnomAD
CA1507534 rs756916454	63	E>G		No	ClinGen ExAC gnomAD
CA1507535 rs756916454	63	E>V		No	ClinGen ExAC gnomAD
CA1507532 rs763885182	64	L>V		No	ClinGen ExAC
rs755867700 CA1507531	65	E>G		No	ClinGen ExAC
rs767423027 CA1507530	66	H>D		No	ClinGen ExAC
CA1507529 rs767423027	66	H>N		No	ClinGen ExAC
CA1507528 rs762985192	66	H>R		No	ClinGen ExAC gnomAD
TCGA novel	67	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272655880 CA345652648	69	Q>H		No	ClinGen gnomAD
rs915618867 CA40869925	69	Q>R		No	ClinGen TOPMed
rs773339708 CA345652634	71	S>R		No	ClinGen ExAC gnomAD
rs765435746 CA1507526	72	E>K		No	ClinGen ExAC gnomAD
rs368516065 CA1507525	72	E>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	76	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1014460181 CA40869916	77	V>L		No	ClinGen Ensembl
CA1507524 rs776677382	78	E>G		No	ClinGen ExAC gnomAD
rs1179631363 CA345652582	79	L>P		No	ClinGen TOPMed
rs769164970 CA1507523	79	L>V		No	ClinGen ExAC gnomAD
rs747353882 CA1507522	80	Q>R		No	ClinGen ExAC
CA1507520 rs772699769	82	D>A		No	ClinGen ExAC gnomAD
rs373031472 CA40869821	83	E>D		No	ClinGen ESP
rs746387592 CA1507501	83	E>K		No	ClinGen ExAC gnomAD
TCGA novel	85	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345652508 rs1275225453	89	R>W		No	ClinGen TOPMed
rs770501559 CA1507499	91	I>N		No	ClinGen ExAC gnomAD
CA345652468 rs1572182112	95	S>A		No	ClinGen Ensembl
rs748728779 CA1507498	95	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755760884 CA345652461	96	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1507496 rs755760884	96	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1215846290 CA345652417	103	G>R		No	ClinGen gnomAD
CA1507493 rs754663416	105	H>R		No	ClinGen ExAC gnomAD
CA1507490 rs757396928	106	L>*		No	ClinGen ExAC gnomAD
CA1507489 rs753962062	106	L>F		No	ClinGen ExAC gnomAD
CA345652391 rs1440770811	107	G>E		No	ClinGen gnomAD
rs764466574 CA1507488	108	S>N		No	ClinGen ExAC gnomAD
rs369889016 CA345652367	110	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA345652366 rs1487618889	111	E>K		No	ClinGen TOPMed
CA345652358 rs1350112073	112	K>Q		No	ClinGen gnomAD
CA1507484 rs759773883	114	R>Q		No	ClinGen ExAC gnomAD
rs767952022 CA1507485	114	R>W		No	ClinGen ExAC gnomAD
rs938404958 CA40869778	117	Y>C		No	ClinGen TOPMed
rs1424382240 CA345652314	118	E>D		No	ClinGen TOPMed
rs1398957491 CA345652304	120	R>Q		No	ClinGen TOPMed gnomAD
CA345652305 rs1179222644	120	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774976778 CA345652301	121	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774976778 CA1507483	121	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1572182012 CA345652297	122	L>V		No	ClinGen Ensembl
rs1157335659 CA345651684	128	Q>E		No	ClinGen TOPMed gnomAD
CA345651663 rs1179416411	129	E>A		No	ClinGen gnomAD
rs775676307 CA1507436	134	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1507435 rs775166865	134	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1507433 rs745639834	135	L>R		No	ClinGen ExAC gnomAD
rs748321338 CA1507430	136	R>Q		No	ClinGen ExAC gnomAD
rs770992632 CA1507431	136	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1507428 rs755019028	138	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1453178931 CA345651402	141	V>A		No	ClinGen gnomAD
rs1163996114 COSM907387 CA345651406	141	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1507424 rs750780193	143	M>I		No	ClinGen ExAC gnomAD
rs372258444 CA1507425	143	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142800203 CA40869158	145	N>S		No	ClinGen ESP TOPMed gnomAD
CA1507422 rs757774213	146	A>T		No	ClinGen ExAC gnomAD
CA40869151 rs994887846	148	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs754301029 CA1507421	148	R>Q		No	ClinGen ExAC gnomAD
CA1507420 rs763539800	155	E>G		No	ClinGen ExAC gnomAD
rs760180182 CA1507419	157	G>S		No	ClinGen ExAC gnomAD
rs775051103 CA1507418	157	G>V		No	ClinGen ExAC gnomAD
rs759472981 CA1507416	158	V>I		No	ClinGen ExAC TOPMed gnomAD
CA345651054 rs1274715654	159	M>T		No	ClinGen TOPMed
CA345651042 rs1354324880	160	A>G		No	ClinGen TOPMed gnomAD
TCGA novel	161	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774278916 CA1507415	161	D>H		No	ClinGen ExAC gnomAD
rs1351138590 CA345651012	163	N>K		No	ClinGen gnomAD
CA345651016 rs1572180505	163	N>T		No	ClinGen Ensembl
CA1507414 rs368667660	164	R>*		No	ClinGen ESP ExAC gnomAD
rs374243789 COSM907386 CA1507413	164	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	168	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs151290329 CA40869127	168	T>M		No	ClinGen ESP TOPMed gnomAD
CA1507412 rs773161419	172	M>I		No	ClinGen ExAC gnomAD
CA345650128 rs749631274	180	V>L		No	ClinGen ExAC TOPMed gnomAD
rs749631274 CA1507385	180	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM425956 rs987576804 CA40868732	183	A>V	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	184	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1507382 rs753202290	185	E>Q		No	ClinGen ExAC gnomAD
CA1507380 rs754498353	187	R>Q		No	ClinGen ExAC gnomAD
rs780857674 CA1507381	187	R>W		No	ClinGen ExAC TOPMed gnomAD
rs751280700 CA1507379	189	R>*		No	ClinGen ExAC gnomAD
rs1179608716 CA345650003	189	R>P		No	ClinGen TOPMed gnomAD
rs1179608716 CA345650004	189	R>Q		No	ClinGen TOPMed gnomAD
CA1507378 rs554983579	192	R>G		No	ClinGen ExAC TOPMed gnomAD
rs750218043 CA40868719	192	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1507376 rs750218043	192	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1507377 rs554983579	192	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA345649950 rs1180945793	193	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA345649940 rs1572179435	194	H>P		No	ClinGen Ensembl
rs764880415 CA1507375	196	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767602867 COSM1127051 CA1507371	199	R>L	prostate [Cosmic]	No	ClinGen cosmic curated ExAC
CA1507372 rs767602867	199	R>Q		No	ClinGen ExAC
CA1507374 rs149049712	199	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs774594178 CA1507369	201	C>G		No	ClinGen ExAC gnomAD
CA345649821 rs1297792955	203	Q>E		No	ClinGen TOPMed
CA345649816 rs1343949548	203	Q>R		No	ClinGen TOPMed
rs773644142 CA1507366	205	E>D		No	ClinGen ExAC gnomAD
rs375608111 CA1507365	206	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1507364 rs748696860	207	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA345649766 rs1332448034	207	R>W		No	ClinGen gnomAD
CA1507362 rs754586080	208	V>G		No	ClinGen ExAC gnomAD
rs1406631840 CA345649742	209	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746487476 CA1507361	210	A>D		No	ClinGen ExAC gnomAD
rs1361368175 CA345649685	213	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs538525157 CA1507360	214	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1572179322 CA345649677	214	T>P		No	ClinGen Ensembl
rs147847671 CA1507358	216	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1507359 COSM210731 rs147597154	216	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs549306552 CA1507354	218	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1322450926 CA345649609	219	I>T		No	ClinGen gnomAD
CA1507352 rs774404618	220	G>S		No	ClinGen ExAC TOPMed gnomAD
CA345649595 rs1356465565	220	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766314992 CA1507351	221	K>N		No	ClinGen ExAC gnomAD
rs371089082 CA1507350	223	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs773269872 CA1507349	223	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1507348 rs770217668	224	P>S		No	ClinGen ExAC TOPMed gnomAD
rs748502436 CA1507347	225	Y>C		No	ClinGen ExAC gnomAD
rs777320393 CA1507346	231	Q>L		No	ClinGen ExAC gnomAD
CA345649445 rs1459531630	233	S>R		No	ClinGen TOPMed
CA345649233 rs1572178685	240	K>R		No	ClinGen Ensembl
CA1507331 rs377403737	241	A>S		No	ClinGen ESP ExAC gnomAD
CA345649225 rs377403737	241	A>T		No	ClinGen ESP ExAC gnomAD
rs777146806 CA1507329	244	T>R		No	ClinGen ExAC gnomAD
rs769074762 CA1507328	246	L>P		No	ClinGen ExAC gnomAD
rs769074762 CA345649151	246	L>R		No	ClinGen ExAC gnomAD
rs1216381611 CA345649124	248	Q>R		No	ClinGen gnomAD
CA1507327 rs761294954	249	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1278774429 CA345649098	250	V>L		No	ClinGen gnomAD
rs771658340 CA345649026	255	T>M		No	ClinGen ExAC gnomAD
CA1507325 rs771658340	255	T>R		No	ClinGen ExAC gnomAD
rs373033623 CA1507323	256	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373033623 CA1507324	256	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1507322 rs770555605	259	V>M		No	ClinGen ExAC gnomAD
CA1507321 rs748884000	261	L>F		No	ClinGen ExAC TOPMed gnomAD
rs777551954 CA40868421	262	R>G		No	ClinGen ExAC TOPMed gnomAD
rs993853976 CA40868419	262	R>H		No	ClinGen TOPMed
CA1507320 rs777551954	262	R>S		No	ClinGen ExAC TOPMed gnomAD
CA40868415 rs887084100	263	N>S		No	ClinGen Ensembl
CA345648968 rs1258322415	263	N>Y		No	ClinGen gnomAD
CA345648954 rs1180077336	265	E>G		No	ClinGen TOPMed
rs1256421016 CA345648932	268	S>N		No	ClinGen gnomAD
rs898050394 CA40868410	269	E>D		No	ClinGen TOPMed
CA1507318 rs752706631	271	I>L		No	ClinGen ExAC gnomAD
rs139622727 CA1507316	273	A>S		No	ClinGen ESP ExAC gnomAD
CA1507315 rs139622727	273	A>T		No	ClinGen ESP ExAC gnomAD
CA1507314 rs765614964	273	A>V		No	ClinGen ExAC gnomAD
CA1507312 rs754071227	274	R>G		No	ClinGen ExAC TOPMed gnomAD
rs764574962 CA1507311	274	R>L		No	ClinGen ExAC TOPMed gnomAD
rs764574962 CA345648894	274	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA345648895 rs754071227	274	R>W		No	ClinGen ExAC TOPMed gnomAD
rs141743810 CA1507309	276	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs757847234 CA1507308	276	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773861681 CA1507306	277	G>A		No	ClinGen ExAC gnomAD
rs1401465643 COSM1134872 CA345648882	277	G>R	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1401465643 CA345648880	277	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1507304 rs748973943	278	G>D		No	ClinGen ExAC TOPMed gnomAD
rs770363760 CA1507305	278	G>R		No	ClinGen ExAC gnomAD
rs1326811012 CA345648869	279	L>P		No	ClinGen TOPMed
rs146099933 CA1507303	281	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1180737005 CA345648855	282	H>P		No	ClinGen gnomAD
CA345648852 rs138260841	282	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1507302 rs769626318 COSM680268	282	H>Y	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs867147687 CA40868377	283	P>L		No	ClinGen TOPMed
rs540493629 CA1507300	283	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	284	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1507297 rs145644780	285	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232886304 CA345648841	285	G>S		No	ClinGen TOPMed
rs757361561 CA1507296	287	R>G		No	ClinGen ExAC TOPMed gnomAD
rs757361561 CA345648830 COSM3789793	287	R>W	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs367683054 CA40868364	288	R>C		No	ClinGen ESP gnomAD
CA345648810 rs1452490190	290	S>F		No	ClinGen TOPMed
CA345648799 rs1385473357	292	V>A		No	ClinGen gnomAD
CA345648803 rs1558225686	292	V>M		No	ClinGen Ensembl
TCGA novel	294	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	295	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345648772 rs1294633747	296	A>V		No	ClinGen gnomAD
rs1221823677 CA345648771	297	G>R		No	ClinGen Ensembl
CA345648759 rs1461776728	299	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA345648758 rs1461776728	299	E>Q		No	ClinGen TOPMed gnomAD
CA1507290 rs767862010	301	M>V		No	ClinGen ExAC gnomAD
rs1377309677 CA345648726	303	D>N		No	ClinGen TOPMed gnomAD
rs774802756 CA1507288	304	G>E		No	ClinGen ExAC gnomAD
rs1405735983 CA345648705	306	S>G		No	ClinGen TOPMed
CA1507287 rs765900952	306	S>N		No	ClinGen ExAC gnomAD
CA345648701 CA1507286 rs762432464	306	S>R		No	ClinGen ExAC gnomAD
CA345648697 rs1218201585	307	G>E		No	ClinGen gnomAD
COSM1225568 rs1283224412 CA345648700	307	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs200975290 CA1507284	310	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs746940687 CA345648657	313	G>A		No	ClinGen ExAC TOPMed gnomAD
rs746940687 CA1507279	313	G>D		No	ClinGen ExAC TOPMed gnomAD
rs780117504 CA1507278	314	A>V		No	ClinGen ExAC gnomAD
CA345648645 rs1300066742	315	G>V		No	ClinGen gnomAD
CA40868345 rs958188509	316	L>P		No	ClinGen Ensembl
rs757453124 CA345648621	319	G>D		No	ClinGen ExAC gnomAD
rs757453124 CA1507277	319	G>V		No	ClinGen ExAC gnomAD
CA345648618 rs1479162231	320	S>G		No	ClinGen gnomAD
rs778196091 CA345648607	321	S>I		No	ClinGen ExAC TOPMed gnomAD
rs778196091 CA1507275	321	S>N		No	ClinGen ExAC TOPMed gnomAD
CA345648611 rs1379131265	321	S>R		No	ClinGen gnomAD
CA1507273 rs752894866	322	L>V		No	ClinGen ExAC
rs969215910 CA40868334	324	P>L		No	ClinGen gnomAD
rs1447081831 CA345648585	325	G>A		No	ClinGen gnomAD
TCGA novel	325	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195137164 CA345648587	325	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA345648589 rs1195137164	325	G>S		No	ClinGen TOPMed gnomAD
rs1277380449 CA345648580	326	P>R		No	ClinGen gnomAD
CA345648581 rs1558225475	326	P>S		No	ClinGen Ensembl
CA1507269 rs752114196	327	A>T		No	ClinGen ExAC gnomAD
CA345648562 rs1558225433	329	D>G		No	ClinGen Ensembl
rs1218436366 CA345648566	329	D>N		No	ClinGen TOPMed gnomAD
CA345648539 rs1280658888	332	T>I		No	ClinGen gnomAD
CA345648541 rs1280658888	332	T>N		No	ClinGen gnomAD
TCGA novel	333	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345648537 rs556646430	333	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs776296122 CA1507262	337	S>G		No	ClinGen ExAC gnomAD
CA1507261 rs768383683 CA40868326	337	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1460730972 CA345648512	337	S>T		No	ClinGen TOPMed
rs775630774 CA1507259	338	L>R		No	ClinGen ExAC gnomAD
CA345648504 rs1572178119	339	R>C		No	ClinGen Ensembl
rs1421307024 COSM907382 CA345648503	339	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs772118823 CA1507258	340	T>A		No	ClinGen ExAC gnomAD
rs1475732313 CA345648496	340	T>M		No	ClinGen TOPMed gnomAD
CA345648492 rs1294297475	341	V>E		No	ClinGen TOPMed
rs1236356576 CA345648493	341	V>L		No	ClinGen TOPMed gnomAD
rs1236356576 CA345648495	341	V>M		No	ClinGen TOPMed gnomAD
CA1507257 rs745739911	342	A>V		No	ClinGen ExAC
CA345648472 rs1443741438	344	D>E		No	ClinGen gnomAD
rs777717782 CA1507255	344	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1207484110 CA345648469	345	L>P		No	ClinGen gnomAD
CA345648450 rs1243393570	348	C>S		No	ClinGen TOPMed gnomAD
rs756181475 CA1507254	351	V>M		No	ClinGen ExAC TOPMed gnomAD
CA40868316 rs951490863	352	E>G		No	ClinGen gnomAD
rs776895965 CA345648403 CA40868315	354	L>F		No	ClinGen gnomAD
CA345648402 rs1356310737	355	R>G		No	ClinGen gnomAD
CA345648400 rs1282460181	355	R>Q		No	ClinGen gnomAD
CA40868311 rs544287545	357	L>F		No	ClinGen 1000Genomes TOPMed
rs544287545 CA345648390	357	L>V		No	ClinGen 1000Genomes TOPMed
CA345648376 rs1341232177	359	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	360	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112255889 CA40868310	360	H>R		No	ClinGen TOPMed
CA1507250 rs751917576	361	V>I		No	ClinGen ExAC gnomAD
rs1397829475 CA345648357	362	S>N		No	ClinGen gnomAD
CA1507249 rs780597391	362	S>R		No	ClinGen ExAC gnomAD
CA40868306 rs1029435690	363	L>M		No	ClinGen TOPMed
CA345648347 rs1410429995	364	D>Y		No	ClinGen TOPMed gnomAD
CA345648339 rs1572177969	365	G>C		No	ClinGen Ensembl
rs758920602 CA1507248	365	G>D		No	ClinGen ExAC gnomAD
rs995498582 CA40868301	366	Q>E		No	ClinGen TOPMed gnomAD
CA1507246 rs764673569	367	E>K		No	ClinGen ExAC TOPMed gnomAD
CA345648319 rs1177612288	368	L>P		No	ClinGen gnomAD
CA345648312 rs1456209051	369	G>A		No	ClinGen gnomAD
rs1451488861 CA345648304	371	R>Q		No	ClinGen gnomAD
rs370746257 CA1507245	371	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA345648286 rs1360249982	374	G>E		No	ClinGen gnomAD
CA1507243 rs763794561	374	G>R		No	ClinGen ExAC TOPMed gnomAD
rs763794561 CA1507244	374	G>W		No	ClinGen ExAC TOPMed gnomAD
CA1507242 COSM1341200 rs760603844	375	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA40868295 rs760603844	375	R>S		No	ClinGen ExAC TOPMed gnomAD
rs759575065 CA1507239	376	R>P		No	ClinGen ExAC gnomAD
rs759575065 CA40868290	376	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1507240 rs771924829	376	R>W		No	ClinGen ExAC gnomAD
rs1349168678 CA345648272	377	G>D		No	ClinGen gnomAD
rs1321504838 CA345648267	378	S>T		No	ClinGen gnomAD
rs961057390 CA40868288	379	D>N		No	ClinGen TOPMed gnomAD
rs1385291746 CA345648256	380	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	381	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345648240 rs774297070	382	A>G		No	ClinGen ExAC gnomAD
CA1507238 rs774297070	382	A>V		No	ClinGen ExAC gnomAD
CA345648236 rs1178079159	383	R>H		No	ClinGen TOPMed gnomAD
CA345648234 rs1178079159	383	R>L		No	ClinGen TOPMed gnomAD
rs1477907117 CA345648232	384	G>R		No	ClinGen gnomAD
rs1245409806 CA345648227	385	G>S		No	ClinGen gnomAD
CA345648220 rs1224406799	386	R>W		No	ClinGen TOPMed gnomAD
CA345648213 rs1256814662	387	H>P		No	ClinGen TOPMed
rs769815238 CA1507237	388	Q>H		No	ClinGen ExAC gnomAD
rs1214579112 CA345648201	389	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs891265673 CA40868282	389	R>H		No	ClinGen gnomAD
rs891265673 CA345648198	389	R>P		No	ClinGen gnomAD
TCGA novel	390	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA40868280 rs1006474929	393	L>M		No	ClinGen TOPMed gnomAD
rs1366630907 CA345648172	393	L>P		No	ClinGen gnomAD

No associated diseases with Q7L8J4

No regional properties for Q7L8J4

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q7L8J4

Functions

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

1 GO annotations of cellular component

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

2 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
protein kinase inhibitor activity	Binds to and stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein.

2 GO annotations of biological process

Name	Definition
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
negative regulation of protein tyrosine kinase activity	Any process that decreases the rate, frequency, or extent of protein tyrosine kinase activity.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9V785	pcs	SH3 domain-binding protein 5 homolog	Drosophila melanogaster (Fruit fly)	PR

10	20	30	40	50	60
MAELRQVPGG	RETPQGELRP	EVVEDEVPRS	PVAEEPGGGG	SSSSEAKLSP	REEEELDPRI
70	80	90	100	110	120
QEELEHLNQA	SEEINQVELQ	LDEARTTYRR	ILQESARKLN	TQGSHLGSCI	EKARPYYEAR
130	140	150	160	170	180
RLAKEAQQET	QKAALRYERA	VSMHNAAREM	VFVAEQGVMA	DKNRLDPTWQ	EMLNHATCKV
190	200	210	220	230	240
NEAEEERLRG	EREHQRVTRL	CQQAEARVQA	LQKTLRRAIG	KSRPYFELKA	QFSQILEEHK
250	260	270	280	290	300
AKVTELEQQV	AQAKTRYSVA	LRNLEQISEQ	IHARRRGGLP	PHPLGPRRSS	PVGAEAGPED
310	320	330	340	350	360
MEDGDSGIEG	AEGAGLEEGS	SLGPGPAPDT	DTLSLLSLRT	VASDLQKCDS	VEHLRGLSDH
370	380	390
VSLDGQELGT	RSGGRRGSDG	GARGGRHQRS	VSL