AiPD: Autoinhibited Protein Database

Q96L50

Gene name	LRR1
Protein name	Leucine-rich repeat protein 1
Names	4-1BB-mediated-signaling molecule, 4-1BBlrr, LRR-repeat protein 1, LRR-1, Peptidylprolyl isomerase-like 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:122769
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-70 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-70 (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

2 structures for Q96L50

Entry ID	Method	Resolution	Chain	Position	Source
7PLO	EM	280 A	O	1-414	PDB
AF-Q96L50-F1	Predicted				AlphaFoldDB

351 variants for Q96L50

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7172032 rs771392301	5	C>G		No	ClinGen ExAC TOPMed gnomAD
CA389605206 rs1195631735	6	E>D		No	ClinGen TOPMed
rs746197235 CA7172034	6	E>K		No	ClinGen ExAC gnomAD
rs1594581720 CA389605217	7	V>G		No	ClinGen Ensembl
rs772591431 CA7172035	7	V>M		No	ClinGen ExAC gnomAD
CA389605243 rs1594581727	9	V>G		No	ClinGen Ensembl
CA7172036 rs775229347	10	I>V		No	ClinGen ExAC TOPMed gnomAD
rs893691600 CA260650413	11	S>T		No	ClinGen Ensembl
rs1422679704 CA389605282	12	R>Q		No	ClinGen gnomAD
CA7172038 rs763651696	13	H>L		No	ClinGen ExAC TOPMed gnomAD
CA260650415 rs763651696	13	H>R		No	ClinGen ExAC TOPMed gnomAD
CA389605322 rs1340052100	15	P>H		No	ClinGen TOPMed gnomAD
CA7172040 rs761784674	17	L>*		No	ClinGen ExAC gnomAD
CA389605362 rs1207196016	18	G>E		No	ClinGen gnomAD
CA260650418 rs772570699	19	L>H		No	ClinGen Ensembl
rs765125742 CA7172041	19	L>V		No	ClinGen ExAC gnomAD
rs1485184803 CA389605389	20	R>S		No	ClinGen gnomAD
rs758139892 CA7172043	21	N>K		No	ClinGen ExAC gnomAD
rs1220806087 CA389605423	23	G>C		No	ClinGen TOPMed
CA389605435 rs1200126685	24	K>E		No	ClinGen gnomAD
CA7172045 rs565449374	24	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA260650423 rs545536791	26	V>I		No	ClinGen Ensembl
CA7172046 rs756349532	27	R>*		No	ClinGen ExAC gnomAD
rs1254391294 CA389605476 COSM1188813	27	R>P	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1254391294 CA389605474	27	R>Q		No	ClinGen gnomAD
rs1566489647 CA389605481	28	A>T		No	ClinGen Ensembl
rs11552668 CA260650425	29	V>A		No	ClinGen Ensembl
CA7172047 rs531024722	31	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA389605542 rs1354712879	32	L>F		No	ClinGen TOPMed
rs1448388105 CA389605562	33	C>F		No	ClinGen TOPMed
CA7172049 rs757391098	34	Q>*		No	ClinGen ExAC gnomAD
CA260650429 rs866827797	35	Q>P		No	ClinGen Ensembl
CA389605611 rs1566489674	37	S>T		No	ClinGen Ensembl
rs1244481844 CA389605925	38	R>G		No	ClinGen gnomAD
rs746393457 CA7172052	38	R>S		No	ClinGen ExAC gnomAD
rs772501896 CA7172053	39	S>N		No	ClinGen ExAC gnomAD
rs776059892 CA7172054	41	P>L		No	ClinGen ExAC gnomAD
rs1594581865 CA389605988	42	P>L		No	ClinGen Ensembl
CA7172055 rs372046185	42	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA389606002 rs1156652467	44	R>G		No	ClinGen gnomAD
rs1344326786 CA389606008	44	R>P		No	ClinGen gnomAD
CA7172056 rs373228685	46	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA389606025 rs373228685	46	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337590263 CA389606037	46	F>L		No	ClinGen gnomAD
rs373228685 CA389606027	46	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA260650437 rs943453975	47	L>P		No	ClinGen TOPMed gnomAD
CA7172057 rs776173270	48	L>P		No	ClinGen ExAC gnomAD
CA7172060 rs773076282	50	S>C		No	ClinGen ExAC TOPMed gnomAD
rs762881893 CA7172061	51	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1245018895 CA389606098	52	L>M		No	ClinGen TOPMed
rs376200466 CA7172063	53	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7172066 rs754110702	55	K>Q		No	ClinGen ExAC gnomAD
CA7172067 rs757223739	57	G>R		No	ClinGen ExAC gnomAD
CA389606149 rs1471127761	58	T>A		No	ClinGen gnomAD
rs1175341287 CA389606153	58	T>I		No	ClinGen gnomAD
rs1207260929 CA389606157	59	R>H		No	ClinGen TOPMed
CA260650448 rs142069646	60	Y>C		No	ClinGen ESP TOPMed gnomAD
CA260650985 rs904911038	62	L>P		No	ClinGen TOPMed
rs144778460 CA389606533	62	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745819331 CA7172105	66	I>V		No	ClinGen ExAC gnomAD
CA389606611 rs1312484382	67	E>D		No	ClinGen TOPMed gnomAD
CA7172106 rs771756095	67	E>K		No	ClinGen ExAC gnomAD
CA389606635 rs1234276133	69	F>Y		No	ClinGen TOPMed gnomAD
rs117500205 CA7172108	70	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA260650986 rs763089074	71	T>A		No	ClinGen TOPMed
rs765599718 CA7172109	72	K>E		No	ClinGen ExAC gnomAD
TCGA novel	73	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7172110 rs773602455	73	F>Y		No	ClinGen ExAC gnomAD
rs1310572278 CA389606842	76	E>G		No	ClinGen TOPMed gnomAD
CA389606904 rs763080897	79	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7172111 rs763080897	79	A>T		No	ClinGen ExAC TOPMed gnomAD
CA389606955 rs1594584481	81	V>L		No	ClinGen Ensembl
rs1207086371 CA389606972	82	R>L		No	ClinGen gnomAD
CA389606970 rs1207086371	82	R>Q		No	ClinGen gnomAD
CA7172114 rs766411123	82	R>W		No	ClinGen ExAC TOPMed gnomAD
CA260650993 rs996000862	84	K>R		No	ClinGen TOPMed
rs201932943 CA7172116	85	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA7172115 rs755576107	85	E>G		No	ClinGen ExAC gnomAD
CA7172117 rs183973680	86	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756501349 CA7172118	86	P>L		No	ClinGen ExAC TOPMed gnomAD
CA389607073 rs1183077092	87	P>L		No	ClinGen TOPMed gnomAD
rs777354325 CA7172119 COSM1477580	87	P>S	Variant assessed as Somatic; 0.0001386 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA260650996 rs1029338576	88	V>L		No	ClinGen gnomAD
CA389607089 rs1158018838	89	D>Y		No	ClinGen gnomAD
CA7172123 rs546920395	93	S>R		No	ClinGen ExAC TOPMed gnomAD
rs781201541 CA7172149	95	A>G		No	ClinGen ExAC gnomAD
CA389608367 rs1386977368	95	A>S		No	ClinGen TOPMed gnomAD
CA389608390 rs1429025011	96	I>M		No	ClinGen TOPMed gnomAD
VAR_051095 CA7172150 rs17121605	96	I>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs184774048 CA260651843	97	S>C		No	ClinGen 1000Genomes
rs771233643 CA7172151	98	S>I		No	ClinGen ExAC TOPMed gnomAD
CA7172152 rs774468080	99	S>R		No	ClinGen ExAC gnomAD
rs377767304 CA260651846	100	L>S		No	ClinGen ESP TOPMed gnomAD
CA7172154 rs772056764	102	G>D		No	ClinGen ExAC TOPMed gnomAD
CA389608473 COSM955930 rs1307568557	103	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs775907122 CA389608481	104	L>F		No	ClinGen ExAC gnomAD
CA7172155 rs775907122	104	L>I		No	ClinGen ExAC gnomAD
rs1227047302 CA389608488	105	S>*		No	ClinGen gnomAD
rs761236025 CA7172156	105	S>T		No	ClinGen ExAC gnomAD
rs1411591817 CA389608502	107	M>T		No	ClinGen TOPMed
rs764425600 CA7172157	109	L>P		No	ClinGen ExAC gnomAD
CA389608514 rs1411903503	109	L>V		No	ClinGen TOPMed gnomAD
CA389608533 rs1302371496	112	R>K		No	ClinGen TOPMed
rs754245364 CA7172158	112	R>S		No	ClinGen ExAC gnomAD
CA389608541 rs1566495073	113	G>V		No	ClinGen Ensembl
rs1265822801 CA389608543	114	C>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs75597763 CA260651852	114	C>W		No	ClinGen Ensembl
CA7172159 rs200215420	116	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA7172160 rs764907176	118	T>I		No	ClinGen ExAC gnomAD
CA7172161 rs764907176	118	T>K		No	ClinGen ExAC gnomAD
rs200475726 CA260651858	121	S>A		No	ClinGen gnomAD
CA7172163 rs779716696	122	T>M		No	ClinGen ExAC TOPMed gnomAD
CA260651860 rs979692457	123	L>F		No	ClinGen TOPMed
rs1161699958 CA389608600	123	L>P		No	ClinGen gnomAD
CA389608611 rs1566495120	125	P>R		No	ClinGen Ensembl
CA7172165 rs755024398	126	V>L		No	ClinGen ExAC gnomAD
CA389608628 rs1360898457	128	T>A		No	ClinGen TOPMed gnomAD
CA389608629 rs1360898457	128	T>S		No	ClinGen TOPMed gnomAD
rs781113168 CA7172166	129	S>*		No	ClinGen ExAC gnomAD
CA260651864 rs994877387	134	F>L		No	ClinGen TOPMed gnomAD
rs34947556 CA7172168	136	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs957120371 CA260651867	137	K>E		No	ClinGen TOPMed
CA7172169 rs370286542	138	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs992352181 CA260651869	139	V>A		No	ClinGen TOPMed gnomAD
CA389608728 rs1280171700	142	S>F		No	ClinGen gnomAD
rs1271666453 CA389608732	143	K>E		No	ClinGen Ensembl
rs746080227 CA7172171	144	K>R		No	ClinGen ExAC gnomAD
rs149083139 CA7172172	149	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149083139 CA7172173	149	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1233356930 CA389608795	149	S>R		No	ClinGen gnomAD
CA389608804 rs1349253394	150	K>Q		No	ClinGen TOPMed
TCGA novel	151	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	151	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763415986 CA7172175	152	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7172174 rs368611958	152	F>S		No	ClinGen ESP ExAC gnomAD
rs777157858 CA7172176	154	Y>C		No	ClinGen ExAC gnomAD
rs1024370114 CA260651878	155	S>F		No	ClinGen Ensembl
rs762192868 CA7172177	160	Q>H		No	ClinGen ExAC gnomAD
rs1321405776 CA389608939	162	S>P		No	ClinGen TOPMed
rs1412808438 CA389608989	165	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	165	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7172179 rs750028135	166	L>R		No	ClinGen ExAC TOPMed gnomAD
rs377149462 COSM955931 CA7172180	168	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs138840261 CA7172182	168	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138840261 CA7172181	168	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389609044 rs775020794	169	V>A		No	ClinGen Ensembl
CA260651886 rs775020794	169	V>D		No	ClinGen Ensembl
CA260651885 rs959282000	169	V>I		No	ClinGen Ensembl
rs752589685 CA7172185	170	D>G		No	ClinGen ExAC gnomAD
CA7172184 rs781225986	170	D>H		No	ClinGen ExAC
CA389609070 rs1276228851	171	M>L		No	ClinGen gnomAD
rs1342314091 CA389609078	171	M>T		No	ClinGen gnomAD
COSM1369909 CA7172187 rs777495090	172	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs61754304 COSM1369910 CA7172188	172	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA260651892 rs61754304 COSM14021	172	R>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs61754304 CA389609097	172	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389609091 rs777495090	172	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	173	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7172190 rs758666717	173	M>T		No	ClinGen ExAC TOPMed gnomAD
CA389609103 rs1478537389	173	M>V		No	ClinGen TOPMed
rs780073578 CA7172191	174	L>R		No	ClinGen ExAC gnomAD
rs978255788 CA260651896	177	K>Q		No	ClinGen Ensembl
rs1172053224 CA614273637	182	L>A		No	ClinGen gnomAD
CA7172196 rs770191229	184	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748610496 CA7172195	184	L>W		No	ClinGen ExAC TOPMed gnomAD
CA260651916 rs554715478	187	N>D		No	ClinGen 1000Genomes gnomAD
CA389609324 rs1405899923	187	N>S		No	ClinGen gnomAD
CA389609338 rs1391821375	188	H>R		No	ClinGen gnomAD
CA7172198 rs762644698	189	I>V		No	ClinGen ExAC gnomAD
CA389609402 rs1435233492	193	P>L		No	ClinGen gnomAD
CA389609394 rs1262375635	193	P>T		No	ClinGen TOPMed
CA7172201 rs371720241	194	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA389609417 rs1346782499	195	T>A		No	ClinGen TOPMed
rs1226117634 CA389609432	196	I>T		No	ClinGen gnomAD
rs886373654 CA260651932	197	G>V		No	ClinGen TOPMed
CA7172204 rs376006121	198	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7172205 rs752674099	198	D>E		No	ClinGen ExAC gnomAD
CA7172203 rs759058859	198	D>N		No	ClinGen ExAC gnomAD
rs1292358748 CA389609459	199	L>F		No	ClinGen gnomAD
CA389609493 rs1358847180	202	L>F		No	ClinGen gnomAD
rs1248748391 CA389609498	203	Q>K		No	ClinGen gnomAD
rs1566495395 CA389609516	205	L>F		No	ClinGen Ensembl
CA260651941 rs866914285	209	D>E		No	ClinGen Ensembl
CA7172207 rs763924712	210	N>S		No	ClinGen ExAC gnomAD
rs866639738 CA260651949	212	L>V		No	ClinGen gnomAD
TCGA novel	217	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7172209 rs145619371	219	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7172210 rs369051720	220	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7172211 rs61754305	223	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7172212 rs61754305	223	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA260651968 rs868867975	225	Q>*		No	ClinGen gnomAD
CA389609650 rs868867975	225	Q>E		No	ClinGen gnomAD
CA389609664 rs1474857620	227	S>T		No	ClinGen TOPMed
rs1390451959 CA389609672	228	L>F		No	ClinGen TOPMed
rs770255744 CA7172215	229	R>Q		No	ClinGen ExAC
CA7172214 rs7148147 VAR_051096	229	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1246825663 CA389609689 COSM3377411	231	L>*	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	232	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1228347284 CA389609713	232	D>Y		No	ClinGen gnomAD
rs1444126417 CA389609732	233	L>P		No	ClinGen TOPMed
rs745467767 CA389609748	234	S>R		No	ClinGen gnomAD
CA389609743 rs1392740393	234	S>T		No	ClinGen TOPMed
rs1195051586 CA389609853	241	L>F		No	ClinGen TOPMed
CA389609850 rs1195051586	241	L>V		No	ClinGen TOPMed
rs774080283 CA7172219	243	V>L		No	ClinGen ExAC TOPMed gnomAD
rs774080283 CA389609876	243	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	244	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7172220 rs373141197	244	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373141197 CA7172221	244	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7172222 rs577168247	248	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA389610013 rs1380598577 COSM3793708	250	E>K	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1566495502 CA389610096	253	N>S		No	ClinGen Ensembl
rs1424904860 CA389610123	254	L>F		No	ClinGen TOPMed gnomAD
CA7172224 rs763894771	255	K>N		No	ClinGen ExAC gnomAD
rs1449390026 CA389610159	256	L>R		No	ClinGen TOPMed
CA260652010 rs374706751	257	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389610170 rs1472659323	257	D>H		No	ClinGen gnomAD
rs1371590258 CA389610220	258	D>G		No	ClinGen TOPMed
rs150690979 CA7172226	258	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1371590258 CA389610224	258	D>V		No	ClinGen TOPMed
CA7172227 rs765023283	259	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7172229 rs755252468	260	E>*		No	ClinGen ExAC gnomAD
rs1332090320 CA389610346	261	L>F		No	ClinGen gnomAD
CA7172230 rs781311885	261	L>M		No	ClinGen ExAC TOPMed gnomAD
CA260652025 rs756250676	263	Q>E		No	ClinGen ExAC gnomAD
CA7172232 rs756250676	263	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA389610415 rs1211728085	264	F>L		No	ClinGen gnomAD
rs778082973 CA7172233	264	F>S		No	ClinGen ExAC gnomAD
rs749817002 CA389610438	265	P>A		No	ClinGen ExAC gnomAD
TCGA novel	265	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749817002 CA7172234	265	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1003828109 CA260652032	267	K>E		No	ClinGen TOPMed
CA7172235 rs771415885	268	I>T		No	ClinGen ExAC gnomAD
CA260652038 rs1025147750	270	Q>L		No	ClinGen TOPMed gnomAD
CA389610577 rs1471407399	273	N>K		No	ClinGen gnomAD
rs775234772 CA7172239	273	N>S		No	ClinGen ExAC gnomAD
rs760052002 CA7172240	274	L>I		No	ClinGen ExAC TOPMed gnomAD
CA7172241 rs149392146	275	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1467104305 CA389610625	275	R>H		No	ClinGen TOPMed gnomAD
CA389610720 rs1401398985	280	A>P		No	ClinGen TOPMed gnomAD
CA389610717 rs1401398985	280	A>S		No	ClinGen TOPMed gnomAD
CA389610714 rs1401398985	280	A>T		No	ClinGen TOPMed gnomAD
rs761808522 CA7172243	281	R>*		No	ClinGen ExAC gnomAD
rs765006876 CA7172244	281	R>Q		No	ClinGen ExAC gnomAD
rs1022137778 CA260652067	282	N>S		No	ClinGen TOPMed
TCGA novel	287	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750268371 CA7172245	288	P>L		No	ClinGen ExAC TOPMed gnomAD
CA389610909 rs750268371	288	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7172246 rs759725714	289	S>N		No	ClinGen ExAC TOPMed gnomAD
CA260652074 rs376915571	290	E>G		No	ClinGen ESP gnomAD
rs767595895 CA7172247	291	F>L		No	ClinGen ExAC gnomAD
CA389610997 rs1235508811	292	R>I		No	ClinGen gnomAD
rs147512785 CA7172250	295	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7172249 rs544538184	295	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389611105 rs544538184	295	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147512785 CA389611108	295	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389611121 rs1164836542	296	L>F		No	ClinGen TOPMed
rs757887089 CA7172252	297	E>D		No	ClinGen ExAC TOPMed gnomAD
rs373427150 CA7172255	303	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA389611269 rs1376512403	304	N>I		No	ClinGen gnomAD
rs772504345 CA7172256	305	T>S		No	ClinGen ExAC
CA7172257 rs779510872	307	E>K		No	ClinGen ExAC gnomAD
rs1170355481 CA389611300	307	E>V		No	ClinGen gnomAD
rs746681808 CA7172258	309	P>S		No	ClinGen ExAC TOPMed gnomAD
CA389611372 rs1253699102	312	L>F		No	ClinGen TOPMed
rs529947824 CA7172259	314	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1297883794 CA389611495	319	A>S		No	ClinGen gnomAD
rs761716820 CA7172261	321	L>*		No	ClinGen ExAC gnomAD
rs1489913459 CA389611565	323	L>S		No	ClinGen TOPMed
rs769764583 CA7172262	323	L>V		No	ClinGen ExAC gnomAD
rs762688991 CA7172264	325	E>A		No	ClinGen ExAC gnomAD
rs1340568478 CA389611617	326	S>Y		No	ClinGen gnomAD
CA7172265 rs140364791	329	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389611658 rs369194727	329	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369194727 CA7172266	329	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA389611694 rs1189062533	331	I>M		No	ClinGen gnomAD
rs200757504 CA7172267	331	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389611735 rs1449516572	333	H>Q		No	ClinGen gnomAD
rs764058340 CA7172268	333	H>R		No	ClinGen ExAC gnomAD
CA7172291 rs760776774	335	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	336	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389613657 rs1210027474	337	P>L		No	ClinGen gnomAD
rs201614832 CA7172292	338	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389613700 rs1184657451	340	S>F		No	ClinGen TOPMed gnomAD
CA260653918 rs571998155	340	S>P		No	ClinGen TOPMed
CA389613710 COSM1493274 rs1174310466	341	H>Y	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs186223942 CA7172294	342	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1378686240 CA389613734	343	I>L		No	ClinGen TOPMed
CA7172295 rs765409122	347	L>F		No	ClinGen ExAC gnomAD
rs1427096939 CA389613813	349	Q>*		No	ClinGen TOPMed
CA389613815 rs1247721955	349	Q>L		No	ClinGen TOPMed
rs374982161 CA7172297	351	L>S		No	ClinGen ESP ExAC gnomAD
CA389613862 rs1173506631	352	D>G		No	ClinGen TOPMed gnomAD
rs751995886 CA7172299	353	T>I		No	ClinGen ExAC gnomAD
rs202037682 COSM357229 CA7172301	354	A>T	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	354	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747814180 CA7172303	355	K>E		No	ClinGen ExAC TOPMed gnomAD
rs747814180 CA389613894	355	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA7172304 rs368394503	355	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	356	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	357	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233541688 CA389613937	358	V>A		No	ClinGen gnomAD
CA389613933 rs1349570771	358	V>I		No	ClinGen gnomAD
CA389613945 rs1566499083	359	C>F		No	ClinGen Ensembl
rs1033989900 CA260653934	359	C>R		No	ClinGen Ensembl
CA389613952 rs1257674174	360	G>V		No	ClinGen TOPMed
rs1566499092 CA389613960	361	R>*		No	ClinGen Ensembl
CA7172305 rs777321301	362	F>V		No	ClinGen ExAC gnomAD
rs749159115 CA7172306	363	C>F		No	ClinGen ExAC TOPMed gnomAD
CA260653944 rs749159115	363	C>S		No	ClinGen ExAC TOPMed gnomAD
CA7172307 rs749159115	363	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA7172308 rs372339466	366	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200336496 CA7172310	369	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs776923968 CA260653951	369	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs776923968 CA7172311	369	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA389614039 rs1452631467	371	T>P		No	ClinGen gnomAD
CA389614069 rs1193602872	374	M>T		No	ClinGen gnomAD
CA260653954 rs978287016	377	H>Y		No	ClinGen Ensembl
TCGA novel	378	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389614117 rs1451819737	380	A>T		No	ClinGen TOPMed gnomAD
CA389614122 rs1166522221	380	A>V		No	ClinGen TOPMed gnomAD
CA389614128 rs1460880241	381	H>Y		No	ClinGen TOPMed
CA7172315 rs190647437	385	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763341596 CA7172316	387	D>H		No	ClinGen ExAC gnomAD
TCGA novel	388	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1382995795 CA389614192	389	L>V		No	ClinGen TOPMed
rs766870127 CA389614212	392	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1367277814 CA389614215	392	T>I		No	ClinGen gnomAD
CA7172317 rs766870127	392	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1225994459 CA389614225	394	A>S		No	ClinGen gnomAD
rs1225994459 CA389614224	394	A>T		No	ClinGen gnomAD
rs147805635 CA260653972	394	A>V		No	ClinGen ESP TOPMed gnomAD
CA389614255 rs1210714641	396	I>S		No	ClinGen gnomAD
rs1257573979 CA389614249	396	I>V		No	ClinGen TOPMed
CA260653977 rs985809589	399	Y>*		No	ClinGen TOPMed gnomAD
CA7172318 rs752029601	399	Y>F		No	ClinGen ExAC gnomAD
rs767874978 CA7172320	402	S>F		No	ClinGen ExAC
CA7172319 rs759838277	402	S>T		No	ClinGen ExAC gnomAD
TCGA novel	402	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7172321 rs752331281	403	L>V		No	ClinGen ExAC gnomAD
CA389614346 rs1191607319	404	G>D		No	ClinGen gnomAD
CA7172325 rs753348353	405	C>S		No	ClinGen ExAC TOPMed gnomAD
CA7172326 rs753348353	405	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA260653988 rs77448344	406	Y>F		No	ClinGen Ensembl
CA260653991 rs930694576	411	D>N		No	ClinGen Ensembl
rs924963621 CA260653998	412	M>I		No	ClinGen TOPMed
TCGA novel	412	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778848000 CA260653995	412	M>R		No	ClinGen ExAC TOPMed gnomAD
CA7172327 rs778848000	412	M>T		No	ClinGen ExAC TOPMed gnomAD
CA260654000 rs867718665	414	K>R		No	ClinGen Ensembl

No associated diseases with Q96L50

2 regional properties for Q96L50

Type	Name	Position	InterPro Accession
domain	Ubiquitin-conjugating enzyme E2	14 - 160	IPR000608
active_site	Ubiquitin-conjugating enzyme, active site	87 - 102	IPR023313

Functions

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

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.

36 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3MHH9	ECM2	Extracellular matrix protein 2	Bos taurus (Bovine)	PR
P58874	OPTC	Opticin	Bos taurus (Bovine)	PR
Q24K06	LRRC10	Leucine-rich repeat-containing protein 10	Bos taurus (Bovine)	PR
Q9V780	Lap1	Protein lap1	Drosophila melanogaster (Fruit fly)	PR
Q96NW7	LRRC7	Leucine-rich repeat-containing protein 7	Homo sapiens (Human)	PR
Q9HCJ2	LRRC4C	Leucine-rich repeat-containing protein 4C	Homo sapiens (Human)	PR
Q9UFC0	LRWD1	Leucine-rich repeat and WD repeat-containing protein 1	Homo sapiens (Human)	PR
Q86UN2	RTN4RL1	Reticulon-4 receptor-like 1	Homo sapiens (Human)	PR
Q8IWK6	ADGRA3	Adhesion G protein-coupled receptor A3	Homo sapiens (Human)	PR
Q96FE5	LINGO1	Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1	Homo sapiens (Human)	PR
Q38SD2	LRRK1	Leucine-rich repeat serine/threonine-protein kinase 1	Homo sapiens (Human)	EV
Q8IWT6	LRRC8A	Volume-regulated anion channel subunit LRRC8A	Homo sapiens (Human)	PR
Q8TDW0	LRRC8C	Volume-regulated anion channel subunit LRRC8C	Homo sapiens (Human)	PR
Q7L1W4	LRRC8D	Volume-regulated anion channel subunit LRRC8D	Homo sapiens (Human)	PR
A6H694	Lrrc63	Leucine-rich repeat-containing protein 63	Mus musculus (Mouse)	PR
Q9D9Q0	Lrrc69	Leucine-rich repeat-containing protein 69	Mus musculus (Mouse)	PR
Q8BGI7	Lrrc39	Leucine-rich repeat-containing protein 39	Mus musculus (Mouse)	PR
Q7TT36	Adgra3	Adhesion G protein-coupled receptor A3	Mus musculus (Mouse)	PR
P59383	Lrrn4	Leucine-rich repeat neuronal protein 4	Mus musculus (Mouse)	PR
Q9D1T0	Lingo1	Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1	Mus musculus (Mouse)	PR
Q8R502	Lrrc8c	Volume-regulated anion channel subunit LRRC8C	Mus musculus (Mouse)	PR
Q80WG5	Lrrc8a	Volume-regulated anion channel subunit LRRC8A	Mus musculus (Mouse)	PR
Q8K0S5	Rtn4rl1	Reticulon-4 receptor-like 1	Mus musculus (Mouse)	PR
Q80TE7	Lrrc7	Leucine-rich repeat-containing protein 7	Mus musculus (Mouse)	PR
Q5DU41	Lrrc8b	Volume-regulated anion channel subunit LRRC8B	Mus musculus (Mouse)	PR
Q5RKR3	Islr2	Immunoglobulin superfamily containing leucine-rich repeat protein 2	Mus musculus (Mouse)	PR
Q8C031	Lrrc4c	Leucine-rich repeat-containing protein 4C	Mus musculus (Mouse)	PR
P70587	Lrrc7	Leucine-rich repeat-containing protein 7	Rattus norvegicus (Rat)	PR
Q4V8G0	Lrrc63	Leucine-rich repeat-containing protein 63	Rattus norvegicus (Rat)	PR
Q80WD0	Rtn4rl1	Reticulon-4 receptor-like 1	Rattus norvegicus (Rat)	PR
Q9TZM3	lrk-1	Leucine-rich repeat serine/threonine-protein kinase 1	Caenorhabditis elegans	SS
Q9SHI4	RLP3	Receptor-like protein 3	Arabidopsis thaliana (Mouse-ear cress)	SS
Q5G5E0	PIRL5	Plant intracellular Ras-group-related LRR protein 5	Arabidopsis thaliana (Mouse-ear cress)	PR
B0JZ65	lrwd1	Leucine-rich repeat and WD repeat-containing protein 1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q68F79	lrrc8e	Volume-regulated anion channel subunit LRRC8E	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
B0R160	lrwd1	Leucine-rich repeat and WD repeat-containing protein 1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MKLHCEVEVI	SRHLPALGLR	NRGKGVRAVL	SLCQQTSRSQ	PPVRAFLLIS	TLKDKRGTRY
70	80	90	100	110	120
ELRENIEQFF	TKFVDEGKAT	VRLKEPPVDI	CLSKAISSSL	KGFLSAMRLA	HRGCNVDTPV
130	140	150	160	170	180
STLTPVKTSE	FENFKTKMVI	TSKKDYPLSK	NFPYSLEHLQ	TSYCGLVRVD	MRMLCLKSLR
190	200	210	220	230	240
KLDLSHNHIK	KLPATIGDLI	HLQELNLNDN	HLESFSVALC	HSTLQKSLRS	LDLSKNKIKA
250	260	270	280	290	300
LPVQFCQLQE	LKNLKLDDNE	LIQFPCKIGQ	LINLRFLSAA	RNKLPFLPSE	FRNLSLEYLD
310	320	330	340	350	360
LFGNTFEQPK	VLPVIKLQAP	LTLLESSART	ILHNRIPYGS	HIIPFHLCQD	LDTAKICVCG
370	380	390	400	410
RFCLNSFIQG	TTTMNLHSVA	HTVVLVDNLG	GTEAPIISYF	CSLGCYVNSS	DMLK