AiPD: Autoinhibited Protein Database

Q96N19

Gene name	GPR137 (C11orf4, GPR137A, TM7SF1L1)
Protein name	Integral membrane protein GPR137
Names	Transmembrane 7 superfamily member 1-like 1 protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56834
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

319-392 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

319-392 (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 Q96N19

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96N19-F1	Predicted				AlphaFoldDB

324 variants for Q96N19

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6072528 rs747502661	2	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6072529 rs771296706	3	S>G		No	ClinGen ExAC TOPMed gnomAD
rs781463952 CA6072530	3	S>R		No	ClinGen ExAC gnomAD
rs1161436356 CA381138619	4	N>H		No	ClinGen Ensembl
rs1282512460 CA381138641	4	N>K		No	ClinGen gnomAD
TCGA novel	9	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381138757 rs1175813799	10	P>S		No	ClinGen gnomAD
CA6072533 rs748930595	12	A>V		No	ClinGen ExAC gnomAD
rs1460269993 CA381138819	13	G>A		No	ClinGen gnomAD
CA6072534 rs768367749	13	G>R		No	ClinGen ExAC
CA381138840 rs1173885885	15	V>L		No	ClinGen gnomAD
rs754420274 CA6072535	17	A>V		No	ClinGen ExAC gnomAD
rs1333008708 CA381138914	19	P>L		No	ClinGen gnomAD
rs1591201531 CA381138956	23	T>P		No	ClinGen Ensembl
rs200160197 CA223872109	25	G>E		No	ClinGen Ensembl
CA381138973 rs1355006666	25	G>R		No	ClinGen gnomAD
rs1375920918 CA381138989	28	A>T		No	ClinGen gnomAD
CA6072537 rs757010889	32	T>I		No	ClinGen ExAC gnomAD
TCGA novel	33	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766174876 CA381139045	37	L>F		No	ClinGen ExAC gnomAD
CA6072540 rs766174876	37	L>V		No	ClinGen ExAC gnomAD
rs1303102429 CA381139068	40	S>Y		No	ClinGen TOPMed
CA381139071 rs1232622623	41	V>I		No	ClinGen gnomAD
CA6072544 rs752991889	42	Y>F		No	ClinGen ExAC
CA381139094 rs1396507743	44	Q>R		No	ClinGen gnomAD
CA6072548 rs757766913	52	G>R		No	ClinGen ExAC gnomAD
CA381139174 rs1326777205	53	H>R		No	ClinGen gnomAD
CA6072549 rs140988018	55	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA381139237 rs1470889055	58	Y>S		No	ClinGen TOPMed gnomAD
COSM3670847 rs1341595341 COSM3670848 CA381139362	65	L>I	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1341595341 CA381139365	65	L>V		No	ClinGen TOPMed gnomAD
CA381139391 rs1206484817	66	C>S		No	ClinGen TOPMed
rs747826564 CA6072554	67	L>R		No	ClinGen ExAC gnomAD
CA6072555 rs771576643	68	L>F		No	ClinGen ExAC gnomAD
TCGA novel	69	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381139508 rs1251575415	72	L>F		No	ClinGen gnomAD
rs1197762978 CA381139517	73	R>H		No	ClinGen TOPMed gnomAD
rs1565358550 CA381139561	75	T>A		No	ClinGen Ensembl
CA223872195 rs779341581	76	L>V		No	ClinGen Ensembl
rs770840283 CA6072559 CA381139649	79	F>L		No	ClinGen ExAC gnomAD
rs1422824501 CA381139648	79	F>S		No	ClinGen TOPMed gnomAD
CA381139645 rs1422824501	79	F>Y		No	ClinGen TOPMed gnomAD
rs1166793623 CA381139682	80	Y>F		No	ClinGen gnomAD
CA381139798 rs1328482986	83	D>V		No	ClinGen gnomAD
rs1277695807 CA381139896	84	T>I		No	ClinGen gnomAD
CA381138984 rs1277508923	85	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1410441664 CA381139936	85	P>L		No	ClinGen TOPMed
rs144751067 CA6072564	86	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs144751067 CA6072563	86	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA381140000 rs1271617243	87	A>T		No	ClinGen gnomAD
CA381140061 rs1459203568	88	N>I		No	ClinGen TOPMed
rs202225667 CA223872214	88	N>Y		No	ClinGen 1000Genomes
CA381140083 rs1208813876	89	R>H		No	ClinGen TOPMed gnomAD
CA381140095 rs1208813876	89	R>L		No	ClinGen TOPMed gnomAD
rs757366253 CA6072567	90	L>V		No	ClinGen ExAC gnomAD
rs372418507 CA6072568	91	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs940132291 CA223872248	94	P>T		No	ClinGen Ensembl
rs1475464291 CA381140316	96	W>C		No	ClinGen gnomAD
rs1254045790 COSM1253512 CA381140378 COSM1253511	99	Y>*	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA223872252 rs933536688	99	Y>C		No	ClinGen Ensembl
CA381140375 rs933536688	99	Y>S		No	ClinGen Ensembl
rs1159001372 CA381140507	103	V>A		No	ClinGen gnomAD
rs1457208032 CA381140486	103	V>I		No	ClinGen gnomAD
rs758043179 CA6072573	112	L>F		No	ClinGen ExAC gnomAD
CA381141078 rs1291996360	115	L>V		No	ClinGen gnomAD
rs777232006 CA6072594	120	V>A		No	ClinGen ExAC gnomAD
CA6072593 rs755374426	120	V>M		No	ClinGen ExAC gnomAD
CA6072595 rs746694445 COSM3359299 COSM3359300	122	F>V	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs756692610 CA6072596	124	A>G		No	ClinGen ExAC gnomAD
CA6072597 rs780898664	128	R>H		No	ClinGen ExAC TOPMed gnomAD
CA381141715 rs1235813022	128	R>S		No	ClinGen gnomAD
CA381141758 rs78783096	129	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373965917 CA6072599	129	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6072598 rs78783096	129	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381141783 rs1456290422	130	P>L		No	ClinGen TOPMed gnomAD
rs1456290422 CA381141784	130	P>Q		No	ClinGen TOPMed gnomAD
COSM3687475 rs1057129800 CA223872188 COSM3687474	131	E>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs748980624 CA6072601	134	R>G		No	ClinGen ExAC gnomAD
TCGA novel	138	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753172893 CA6072630	138	A>V		No	ClinGen ExAC gnomAD
CA6072631 rs763418331	140	R>*		No	ClinGen ExAC gnomAD
rs1591208236 CA381144104	140	R>Q		No	ClinGen Ensembl
TCGA novel	142	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1043919672 CA223872895	142	A>T		No	ClinGen TOPMed
rs779651778 CA6072635	144	V>A		No	ClinGen ExAC gnomAD
rs935641310 CA223872910	144	V>M		No	ClinGen TOPMed gnomAD
rs1356099228 CA381140079	147	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs747871341 CA6072639	148	L>M		No	ClinGen ExAC gnomAD
TCGA novel	150	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381144483 rs1264114539	153	V>M		No	ClinGen TOPMed
TCGA novel	155	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6072641 rs777920582	156	L>P		No	ClinGen ExAC TOPMed gnomAD
CA223872969 rs748282310	157	C>Y		No	ClinGen Ensembl
rs770977118 CA6072643	159	V>L		No	ClinGen ExAC gnomAD
rs989644329 CA223872981	160	L>F		No	ClinGen Ensembl
CA381144738 rs1591208532	160	L>P		No	ClinGen Ensembl
rs1021235701 CA223873000	161	S>T		No	ClinGen gnomAD
rs1490756400 CA381144834	162	H>Q		No	ClinGen gnomAD
CA6072644 rs776832040	162	H>R		No	ClinGen ExAC TOPMed gnomAD
rs982112344 CA223873035	163	R>L		No	ClinGen gnomAD
CA381144842 rs1211767264	163	R>W		No	ClinGen gnomAD
CA223873040 rs927990756	164	R>C		No	ClinGen gnomAD
rs770270522 CA223873071	165	R>P		No	ClinGen ExAC TOPMed gnomAD
rs770270522 CA6072646	165	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381144911 rs1419257311	166	A>V		No	ClinGen gnomAD
rs764587210 CA6072649	167	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs763364676 CA6072648	167	Q>R		No	ClinGen ExAC gnomAD
rs1297605041 CA381140912	169	W>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA381145066 rs1313026218	170	A>S		No	ClinGen gnomAD
rs1313026218 CA381145056	170	A>T		No	ClinGen gnomAD
rs1360793859 CA381145081	170	A>V		No	ClinGen gnomAD
rs760450197 CA6072651	173	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1373793520 CA381145168	174	V>F		No	ClinGen gnomAD
rs1373793520 CA381145202	174	V>I		No	ClinGen gnomAD
rs376609480 CA223873094	175	R>H		No	ClinGen gnomAD
CA381145500 rs1481829480	183	F>C		No	ClinGen gnomAD
CA6072658 rs375255078	184	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381145559 rs1397767782	185	I>T		No	ClinGen Ensembl
CA381145542 rs1469210278	185	I>V		No	ClinGen TOPMed
CA6072660 rs757569049	187	A>T		No	ClinGen ExAC gnomAD
rs781275629 CA6072662	188	L>P		No	ClinGen ExAC gnomAD
rs1025684359 CA223873175	189	S>F		No	ClinGen TOPMed
CA381145682 rs1280839426	190	L>F		No	ClinGen TOPMed
rs138261831 CA6072602	192	A>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA381145783 rs1565361087	192	A>T		No	ClinGen Ensembl
CA381142008 rs1343581451	193	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs201636978 CA6072663	194	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6072664 rs769790857	195	C>F		No	ClinGen ExAC TOPMed gnomAD
CA381145966 rs1565361121	196	L>R		No	ClinGen Ensembl
rs141699719 CA6072666	197	V>I		No	ClinGen ESP ExAC gnomAD
CA223873245 rs141699719	197	V>L		No	ClinGen ESP ExAC gnomAD
rs199901628 CA381146027	198	A>S		No	ClinGen ExAC TOPMed gnomAD
rs199901628 CA6072669	198	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6072671 rs776161272	200	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6072673 rs371923620	201	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1457010624 CA381146176	202	P>H		No	ClinGen TOPMed gnomAD
CA6072637 rs754996541	205	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381146272 rs1476748681	205	S>N		No	ClinGen gnomAD
rs1444969458 CA381146300	205	S>R		No	ClinGen TOPMed
rs1033197628 CA223873296	206	I>V		No	ClinGen gnomAD
CA381146410 rs1285707284	207	Y>C		No	ClinGen TOPMed
CA381146511 rs1343701292	210	A>G		No	ClinGen TOPMed
CA6072679 rs781430494	210	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6072680 rs781430494	210	A>T		No	ClinGen ExAC TOPMed gnomAD
CA381146969 rs1353766084	212	G>R		No	ClinGen gnomAD
rs1035259122 CA223873469	212	G>V		No	ClinGen Ensembl
CA381144577 rs1381321596	213	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1273868079 CA381147045	213	T>S		No	ClinGen TOPMed
CA381147198 rs1286019759	216	C>W		No	ClinGen gnomAD
TCGA novel	216	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779511879 CA381147334	218	A>E		No	ClinGen ExAC gnomAD
rs779511879 CA6072702	218	A>V		No	ClinGen ExAC gnomAD
rs116483940 CA381147430	220	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772451549 CA6072704	220	A>T		No	ClinGen ExAC gnomAD
CA6072705 rs116483940	220	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs941423375 CA223873501 CA381147479	221	M>I		No	ClinGen TOPMed gnomAD
COSM930065 COSM1585899 CA6072645 rs746357799	223	G>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6072709 rs762401963	224	A>T		No	ClinGen ExAC TOPMed gnomAD
rs771262718 CA6072710	225	M>V		No	ClinGen ExAC gnomAD
CA381147760 rs1332568422	227	L>P		No	ClinGen gnomAD
rs1243535110 CA381147801	229	Y>C		No	ClinGen gnomAD
CA6072714 rs750249021	232	R>W		No	ClinGen ExAC gnomAD
CA6072652 rs149311005	233	A>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6072653 COSM1152382 COSM930066 rs753450610	234	C>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA223873135 rs909951119	238	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA223873545 rs560033866	238	T>R		No	ClinGen gnomAD
rs755067520 CA6072718	241	A>S		No	ClinGen ExAC gnomAD
rs765445407 CA6072719	241	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6072721 rs758885319	242	L>F		No	ClinGen ExAC gnomAD
CA381145521 rs375255078	242	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA6072720 rs139990625	242	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA223873569 rs911118065	243	A>T		No	ClinGen TOPMed
rs1591211144 CA381148305	243	A>V		No	ClinGen Ensembl
CA6072722 rs778349060	244	P>H		No	ClinGen ExAC gnomAD
CA381148323 rs1474705240	244	P>S		No	ClinGen TOPMed
CA6072723 rs747279633	245	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA223873579 rs942378533	246	S>N		No	ClinGen Ensembl
rs202166109 CA6072726	247	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs149851257 CA6072725	247	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381148550 rs1444149965	248	L>V		No	ClinGen gnomAD
rs1234857518 CA381148718	252	D>Y		No	ClinGen TOPMed gnomAD
CA381148792 rs1199018555	254	D>A		No	ClinGen gnomAD
CA223873618 rs148504479	254	D>N		No	ClinGen ESP TOPMed gnomAD
rs1591211424 CA381148842	256	Y>D		No	ClinGen Ensembl
rs1456582583 CA381148911	257	N>S		No	ClinGen TOPMed gnomAD
CA223873263 rs979585557	258	V>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1591211491 CA381149014	259	S>F		No	ClinGen Ensembl
TCGA novel	259	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381149087 rs1591211525	260	D>E		No	ClinGen Ensembl
CA381149020 rs1178266285	260	D>N		No	ClinGen TOPMed gnomAD
CA6072752 rs369261653	262	A>=	Variant assessed as Somatic; 4.659e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6072751 rs200168273	262	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA381149289 rs1364416600	264	L>P		No	ClinGen gnomAD
CA6072753 rs759833031	267	D>E		No	ClinGen ExAC gnomAD
CA223873751 rs955229554	267	D>G		No	ClinGen Ensembl
rs1187157193 CA381149443	269	G>R		No	ClinGen gnomAD
rs1338418459 CA381149501	270	N>S		No	ClinGen gnomAD
rs373363759 CA6072754	272	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA381149726 rs1461695973	278	L>V		No	ClinGen TOPMed
CA381149963 rs1218975441	285	L>V		No	ClinGen gnomAD
rs750716657 CA6072762	288	T>S		No	ClinGen ExAC gnomAD
rs1591212904 CA381150100	289	T>P		No	ClinGen Ensembl
rs1058388 CA223873789	293	G>C		No	ClinGen Ensembl
rs1416454995 CA381150246	293	G>V		No	ClinGen TOPMed gnomAD
rs778377469 CA6072764	295	F>L		No	ClinGen ExAC gnomAD
rs1384291863 CA381150359	296	R>Q		No	ClinGen gnomAD
rs752422453 CA6072765	296	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1419767506 CA381150430	299	R>Q		No	ClinGen TOPMed gnomAD
rs956853903 CA223873800	301	P>Q		No	ClinGen TOPMed gnomAD
CA381150834 rs745842537	305	S>N		No	ClinGen ExAC gnomAD
rs745842537 CA6072790	305	S>T		No	ClinGen ExAC gnomAD
CA6072791 rs78106172	306	T>P		No	ClinGen ExAC gnomAD
CA6072792 rs779960366	309	I>V		No	ClinGen ExAC gnomAD
CA381151058 rs1591214291	310	L>F		No	ClinGen Ensembl
CA381148709 COSM1355670 rs1234857518 COSM1355671	310	L>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA381151096 rs1180126291	311	N>K		No	ClinGen gnomAD
CA6072793 rs749469977	311	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1256976852 CA381151107	312	G>A		No	ClinGen TOPMed
CA381151109 rs1256976852	312	G>V		No	ClinGen TOPMed
rs768861262 CA6072794	313	Q>*		No	ClinGen ExAC gnomAD
rs768861262 CA6072795	313	Q>E		No	ClinGen ExAC gnomAD
rs1281700916 CA381151234	318	R>W		No	ClinGen TOPMed
rs1354501692 CA381151258	319	S>F		No	ClinGen Ensembl
rs370539837 CA381151411	324	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370539837 CA6072798	324	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1175395905 CA381151410	324	R>W		No	ClinGen gnomAD
CA381151430 rs1467328464	325	A>V		No	ClinGen gnomAD
CA381151445 rs1329549835	326	G>V		No	ClinGen gnomAD
rs773675345 CA6072799	327	H>R		No	ClinGen ExAC gnomAD
CA381151478 rs1335472006	327	H>Y		No	ClinGen gnomAD
CA6072800 rs761291894	329	E>K		No	ClinGen ExAC gnomAD
rs929799699 CA223874014	332	G>D		No	ClinGen TOPMed
CA381151646 rs1383627858	332	G>S		No	ClinGen TOPMed
rs762903268 CA6072756	333	C>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1047369258 CA223874018	333	C>R		No	ClinGen TOPMed gnomAD
rs777120487 CA6072802	334	S>F		No	ClinGen ExAC gnomAD
rs1270439958 CA381151758	335	W>*		No	ClinGen gnomAD
CA381151741 rs1197207180	335	W>S		No	ClinGen gnomAD
rs759824628 CA6072803	336	E>V		No	ClinGen ExAC TOPMed gnomAD
CA381151812 rs1565363421	337	H>R		No	ClinGen Ensembl
rs577812067 CA381151878	339	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6072805 rs577812067	339	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6072804 rs763791624	339	R>W		No	ClinGen ExAC TOPMed gnomAD
CA381149851 rs1565362548	340	G>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6072806 rs756798210	340	G>S		No	ClinGen ExAC gnomAD
CA223874066 rs943996004	341	E>*		No	ClinGen TOPMed
rs533564739 CA6072807	341	E>D		No	ClinGen ExAC gnomAD
CA381152030 rs1478680256	344	R>K		No	ClinGen gnomAD
rs1565364325 CA381153263	344	R>S		No	ClinGen Ensembl
rs1164892448 CA381153443	349	A>T		No	ClinGen gnomAD
CA6072847 rs112280262	349	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6072848 rs759525423	351	T>S		No	ClinGen ExAC gnomAD
rs1404201706 CA381153575	352	T>I		No	ClinGen gnomAD
rs1442775336 CA381153650	354	V>I		No	ClinGen TOPMed
rs1240322587 CA381153782	356	T>A		No	ClinGen gnomAD
CA6072849 rs765010882	356	T>I		No	ClinGen ExAC gnomAD
CA381153823 rs1212997040	357	P>A		No	ClinGen TOPMed
CA6072850 rs752421079	357	P>L		No	ClinGen ExAC gnomAD
CA6072851 rs59138617	359	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs561497512 CA223874481	361	R>H		No	ClinGen TOPMed gnomAD
CA381154049 rs778003446	361	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6072853 rs751769598	363	P>H		No	ClinGen ExAC gnomAD
CA6072856 COSM1188283 rs551479017	364	P>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed
CA6072854 rs757339612	364	P>S		No	ClinGen ExAC TOPMed gnomAD
CA381154187 rs1278785438	366	S>P		No	ClinGen TOPMed gnomAD
rs1327313394 CA381154226	367	P>T		No	ClinGen TOPMed
CA381154264 rs1305733573	368	T>P		No	ClinGen TOPMed gnomAD
CA381154289 rs1331561479	369	E>*		No	ClinGen TOPMed gnomAD
rs780722823 CA6072861	369	E>G		No	ClinGen ExAC gnomAD
CA381154294 rs1331561479	369	E>K		No	ClinGen TOPMed gnomAD
CA6072862 rs749624824	370	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1183505174 CA381154428	371	P>A		No	ClinGen TOPMed
CA381154557 rs1232267506	374	S>R		No	ClinGen TOPMed
rs1202123637 CA381154573	374	S>T		No	ClinGen TOPMed
CA6072864 rs768937513	375	P>A		No	ClinGen ExAC gnomAD
rs768937513 CA6072863	375	P>S		No	ClinGen ExAC gnomAD
CA6072865 rs200570583	376	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6072796 rs761827195	376	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1591218864 CA381154678	377	H>P		No	ClinGen Ensembl
rs141281150 CA6072866	379	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1332746164 CA381154760	380	P>S		No	ClinGen TOPMed
rs759049381 CA6072868	382	C>R		No	ClinGen ExAC gnomAD
rs765100830 COSM1676140 CA6072869	383	Q>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1429279303 CA381154873	384	V>I		No	ClinGen gnomAD
rs752653816 CA6072870	386	L>V		No	ClinGen ExAC gnomAD
CA6072871 rs762705422	387	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6072872 rs762705422	387	P>R		No	ClinGen ExAC TOPMed gnomAD
CA381154992 rs1444742381	387	P>S		No	ClinGen TOPMed
rs766931611 CA223874556	388	L>P		No	ClinGen Ensembl
rs1460171555 CA381155040	389	L>F		No	ClinGen gnomAD
CA6072875 rs781483598	389	L>P		No	ClinGen ExAC gnomAD
rs376225218 CA6072876	390	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA381155151 rs1406302144	391	Q>*		No	ClinGen gnomAD
CA6072877 rs756288995	391	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	391	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6072878 rs367703845	392	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6072879 rs367703845	392	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs755343938 CA6072880	394	G>W		No	ClinGen ExAC gnomAD
rs945401079 CA381155293	396	R>G		No	ClinGen TOPMed gnomAD
rs779201215 CA6072881	396	R>H		No	ClinGen ExAC TOPMed gnomAD
rs553703869 CA6072882	397	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs776278037 CA6072884	398	Y>*		No	ClinGen ExAC gnomAD
rs1488932917 CA381155373	398	Y>C		No	ClinGen gnomAD
CA381155369 rs1488932917	398	Y>S		No	ClinGen gnomAD
CA6072886 rs769324867	399	P>A		No	ClinGen ExAC gnomAD
CA6072887 rs775383976	399	P>L		No	ClinGen ExAC gnomAD
CA6072888 rs762857960	400	L>P		No	ClinGen ExAC gnomAD
rs763947093 CA6072889	401	L>F		No	ClinGen ExAC gnomAD
rs773952568 CA6072890	402	W>*		No	ClinGen ExAC TOPMed gnomAD
rs761684438 CA6072892	403	P>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	404	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381155712 rs1185070906	407	C>R		No	ClinGen gnomAD
rs1359626153 CA381155792	408	S>F		No	ClinGen gnomAD
CA6072896 rs754387631	409	C>R		No	ClinGen ExAC TOPMed gnomAD
rs755506702 CA6072897	410	H>R		No	ClinGen ExAC gnomAD
CA6072898 rs779481487	411	S>I		No	ClinGen ExAC gnomAD
CA6072899 rs371910058	413	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs780783559 CA6072901	414	V>A		No	ClinGen ExAC gnomAD
CA381156043 rs775046189	416	S>C		No	ClinGen ExAC gnomAD
rs775046189 CA6072904	416	S>F		No	ClinGen ExAC gnomAD
rs1378691774 CA381153898	416	S>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775046189 CA381156044	416	S>Y		No	ClinGen ExAC gnomAD
CA6072906 rs768418179	417	P>S		No	ClinGen ExAC gnomAD
CA381156091 rs1354838704	418	P>E		No	ClinGen TOPMed

No associated diseases with Q96N19

1 regional properties for Q96N19

Type	Name	Position	InterPro Accession
active_site	Lipase, GDSL, active site	38 - 49	IPR008265

Functions

		Description
EC Number
Subcellular Localization	Lysosome membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a 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.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name	Definition
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
negative regulation of bone resorption	Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption.
negative regulation of osteoclast differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation.
positive regulation of TORC1 signaling	Any process that activates or increases the frequency, rate or extent of TORC1 signaling.
regulation of autophagy	Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O60478	GPR137B	Integral membrane protein GPR137B	Homo sapiens (Human)	PR

10	20	30	40	50	60
MESNLSGLVP	AAGLVPALPP	AVTLGLTAAY	TTLYALLFFS	VYAQLWLVLL	YGHKRLSYQT
70	80	90	100	110	120
VFLALCLLWA	ALRTTLFSFY	FRDTPRANRL	GPLPFWLLYC	CPVCLQFFTL	TLMNLYFAQV
130	140	150	160	170	180
VFKAKVKRRP	EMSRGLLAVR	GAFVGASLLF	LLVNVLCAVL	SHRRRAQPWA	LLLVRVLVSD
190	200	210	220	230	240
SLFVICALSL	AACLCLVARR	APSTSIYLEA	KGTSVCQAAA	MGGAMVLLYA	SRACYNLTAL
250	260	270	280	290	300
ALAPQSRLDT	FDYDWYNVSD	QADLVNDLGN	KGYLVFGLIL	FVWELLPTTL	LVGFFRVHRP
310	320	330	340	350	360
PQDLSTSHIL	NGQVFASRSY	FFDRAGHCED	EGCSWEHSRG	ESTRCQDQAA	TTTVSTPPHR
370	380	390	400	410
RDPPPSPTEY	PGPSPPHPRP	LCQVCLPLLA	QDPGGRGYPL	LWPAPCCSCH	SELVPSP