AiPD: Autoinhibited Protein Database

Q96I13

Gene name	ABHD8
Protein name	Protein ABHD8
Names	Alpha/beta hydrolase domain-containing protein 8, Abhydrolase domain-containing protein 8
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79575
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

100-179 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

100-179 (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 Q96I13

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96I13-F1	Predicted				AlphaFoldDB

361 variants for Q96I13

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs769538954 CA404676019	4	G>E		No	ClinGen ExAC gnomAD
CA404676021 CA404676024 rs919856528	4	G>R		No	ClinGen TOPMed gnomAD
rs769538954 CA9291916	4	G>V		No	ClinGen ExAC gnomAD
CA306033298 rs919856528	4	G>W		No	ClinGen TOPMed gnomAD
CA404675994 rs1431301310	5	V>L		No	ClinGen gnomAD
CA404675930 rs1418088232	7	D>A		No	ClinGen gnomAD
rs561881827 CA306033275	7	D>E		No	ClinGen ExAC TOPMed gnomAD
rs759068394 CA404675940	7	D>H		No	ClinGen ExAC gnomAD
CA9291914 rs759068394	7	D>N		No	ClinGen ExAC gnomAD
rs552233794 CA404675896	8	G>C		No	ClinGen TOPMed gnomAD
rs949602157 CA306033265	8	G>D		No	ClinGen TOPMed
CA306033269 rs552233794	8	G>R		No	ClinGen TOPMed gnomAD
rs746966639 CA9291911	11	C>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	15	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9291906 rs780297252	17	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9291907 rs146901681	17	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404675613 rs1235324616	18	P>L		No	ClinGen TOPMed gnomAD
rs1235324616 CA404675610	18	P>R		No	ClinGen TOPMed gnomAD
CA306033239 rs367827324	19	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs546146109 CA404675581	19	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9291904 rs367827324	19	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1382768097 CA404675569	20	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs147808769 CA306033217	21	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9291901 rs147808769	21	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1433688298 CA404675483	22	G>E		No	ClinGen gnomAD
CA9291900 rs151037617	25	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764675043 CA404675364	26	S>I		No	ClinGen ExAC TOPMed gnomAD
rs764675043 CA9291899	26	S>T		No	ClinGen ExAC TOPMed gnomAD
CA9291898 rs142856821	27	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1429668458 CA404675329	28	E>Q		No	ClinGen TOPMed gnomAD
CA9291897 rs753140950	30	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1469221185 CA404675286	30	S>T		No	ClinGen TOPMed gnomAD
rs968935995 CA306033210	31	D>N		No	ClinGen gnomAD
rs1272979772 CA404675231	32	G>D		No	ClinGen gnomAD
CA9291896 rs765645691	32	G>S		No	ClinGen ExAC gnomAD
CA404675201 rs1303372344	34	T>I		No	ClinGen TOPMed
rs1253630838 CA404675142	36	V>E		No	ClinGen gnomAD
CA306033205 rs1022195852	37	E>A		No	ClinGen Ensembl
CA9291895 rs759236130	38	V>I		No	ClinGen ExAC gnomAD
CA9291894 rs776077620	40	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776077620 CA404675054	40	P>T		No	ClinGen ExAC TOPMed gnomAD
CA404675035 rs765984168	41	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9291893 rs765984168	41	G>S		No	ClinGen ExAC TOPMed gnomAD
CA404675023 rs1295350383	42	R>C		No	ClinGen TOPMed gnomAD
rs1295350383 CA404675022	42	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	42	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404675008 rs1227527679	42	R>L		No	ClinGen gnomAD
rs760095047 CA9291892	43	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1384783545 CA404674956	45	R>L		No	ClinGen gnomAD
CA404674852 rs1462832548	51	P>S		No	ClinGen gnomAD
rs771970137 CA404674832	52	A>P		No	ClinGen ExAC gnomAD
CA9291890 rs771970137	52	A>T		No	ClinGen ExAC gnomAD
rs1449332719 CA404674776	54	A>D		No	ClinGen gnomAD
rs1431702798 CA404674745	56	A>T		No	ClinGen TOPMed gnomAD
CA404674737 rs1266919073	56	A>V		No	ClinGen gnomAD
rs1196556447 CA404674727	57	P>A		No	ClinGen gnomAD
rs774155542 CA9291887	57	P>R		No	ClinGen ExAC gnomAD
CA306033175 rs747827990	60	P>L		No	ClinGen Ensembl
rs1230406150 CA404674633	62	S>F		No	ClinGen gnomAD
CA9291884 rs781257066	62	S>P		No	ClinGen ExAC gnomAD
CA9291882 rs374386420	63	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1391437 rs374386420 CA9291881	63	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs370070131 CA9291877	65	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370070131 CA9291878	65	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376563081 CA404674545	69	Q>*		No	ClinGen gnomAD
CA404674541 rs1174441746	69	Q>L		No	ClinGen gnomAD
CA9291873 rs760274265	70	G>E		No	ClinGen ExAC gnomAD
rs3745186 CA9291874	70	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1599525947 CA404674513	71	D>A		No	ClinGen Ensembl
CA9291872 rs766966995	71	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9291871 rs766966995	71	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs749014928 CA9291867	74	G>C		No	ClinGen ExAC TOPMed gnomAD
rs776950825 CA9291866	74	G>D		No	ClinGen ExAC gnomAD
CA9291868 rs749014928	74	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1198619549 CA404674453	75	L>F		No	ClinGen gnomAD
CA404674429 rs1363521448	77	R>C		No	ClinGen TOPMed
rs1037237789 CA404674427	77	R>H		No	ClinGen gnomAD
rs1037237789 CA306033146	77	R>L		No	ClinGen gnomAD
CA404674387 rs1260743268	80	R>C		No	ClinGen gnomAD
CA9291865 rs771087992	80	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778010815 CA9291863	81	R>P		No	ClinGen ExAC TOPMed
CA404674378 rs778010815	81	R>Q		No	ClinGen ExAC TOPMed
CA9291864 rs747176177	81	R>W		No	ClinGen ExAC TOPMed gnomAD
rs912465414 CA306033129	84	V>A		No	ClinGen Ensembl
rs1336758703 CA404674348 CA404674350	84	V>L		No	ClinGen gnomAD
CA404674352 rs1336758703	84	V>M		No	ClinGen gnomAD
CA9291860 rs779278939	86	R>G		No	ClinGen ExAC gnomAD
CA9291859 rs755423619	86	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM1742673 CA306033126 rs932304480	87	N>S	biliary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA9291858 rs754123574	89	R>Q		No	ClinGen ExAC gnomAD
CA404674281 rs1459054979	89	R>W		No	ClinGen gnomAD
CA9291857 rs780429313	92	V>A		No	ClinGen ExAC gnomAD
rs1475430098 CA404674252	92	V>L		No	ClinGen TOPMed gnomAD
CA404674216 rs1599525882	94	N>T		No	ClinGen Ensembl
TCGA novel	96	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755787357 CA9291856	97	R>P		No	ClinGen ExAC TOPMed gnomAD
CA404674176 rs755787357	97	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767018432 CA9291854	98	A>D		No	ClinGen ExAC TOPMed gnomAD
rs767018432 CA9291855	98	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9291853 rs761309621	99	P>L		No	ClinGen ExAC gnomAD
CA404674144 rs751547039	100	R>G		No	ClinGen ExAC gnomAD
rs763907147 CA9291851	100	R>P		No	ClinGen ExAC TOPMed gnomAD
CA404674141 rs763907147	100	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA306033095 rs867132263	102	D>N		No	ClinGen Ensembl
rs1233485170 CA404674081	103	L>P		No	ClinGen gnomAD
CA404674046 rs1357506772	105	H>Y		No	ClinGen gnomAD
CA9291846 rs773559603 CA9291848	106	G>R		No	ClinGen ExAC TOPMed gnomAD
rs773559603 CA9291847	106	G>W		No	ClinGen ExAC TOPMed gnomAD
CA404673993 rs1319118086	107	Q>P		No	ClinGen gnomAD
rs1050142434 CA306033084	108	N>I		No	ClinGen TOPMed
rs772333400 CA9291845	109	G>C		No	ClinGen ExAC gnomAD
rs1035930909 CA306033079	110	S>F		No	ClinGen gnomAD
CA404673888 rs1161239635	113	P>A		No	ClinGen gnomAD
CA306033058 rs1002898696	114	P>L		No	ClinGen Ensembl
CA9291841 rs749756854	116	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1230328810 CA404673826	117	L>P		No	ClinGen TOPMed
CA9291840 rs780297888	118	E>K		No	ClinGen ExAC gnomAD
CA404673804 rs1213946271	120	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA404673780 rs1452966436	122	A>T		No	ClinGen gnomAD
rs1210659112 CA404673771	122	A>V		No	ClinGen TOPMed
rs750143429 CA404673770	123	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9291838 rs750143429	123	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1036904356 CA404673755	124	P>A		No	ClinGen gnomAD
CA9291836 rs756799431	124	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1036904356 CA306033016	124	P>S		No	ClinGen gnomAD
CA9291835 rs751059861	125	A>E		No	ClinGen ExAC TOPMed gnomAD
CA404673743 rs751059861	125	A>G		No	ClinGen ExAC TOPMed gnomAD
CA306033005 rs751059861	125	A>V		No	ClinGen ExAC TOPMed gnomAD
rs373958722 CA9291834	126	G>V		No	ClinGen ExAC TOPMed gnomAD
CA404673717 rs1351804599	128	D>N		No	ClinGen gnomAD
rs762808953 CA9291833	129	G>A		No	ClinGen ExAC TOPMed gnomAD
CA9291832 rs377333754	130	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA404673652 rs765003550	132	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9291831 rs765003550	132	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	133	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs957002325 CA306032980	134	G>D		No	ClinGen TOPMed gnomAD
rs773620898 CA9291829	134	G>S		No	ClinGen ExAC gnomAD
CA9291828 rs772396065	135	S>G		No	ClinGen ExAC TOPMed gnomAD
CA404673613 rs1001048620 CA306032969	135	S>R		No	ClinGen TOPMed gnomAD
rs762089945 CA9291827	136	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9291826 rs774320476	137	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1599525728 CA404673570	138	S>R		No	ClinGen Ensembl
CA404673576 rs1340652817	138	S>T		No	ClinGen gnomAD
CA306032960 rs946527902	139	G>R		No	ClinGen TOPMed gnomAD
CA306032961 rs946527902	139	G>S		No	ClinGen TOPMed gnomAD
CA9291825 rs200255813	139	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9291823 rs776062813	140	S>R		No	ClinGen ExAC gnomAD
rs1273331087 CA404673550	140	S>R		No	ClinGen gnomAD
CA404673531 rs1309594251	141	G>A		No	ClinGen TOPMed gnomAD
CA9291821 rs746198270	141	G>C		No	ClinGen ExAC TOPMed gnomAD
CA404673532 rs1309594251	141	G>D		No	ClinGen TOPMed gnomAD
CA9291822 rs746198270	141	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1427781814 CA404673485	145	G>C		No	ClinGen gnomAD
CA404673491 rs1427781814	145	G>S		No	ClinGen gnomAD
rs1369864977 CA404673456	146	G>E		No	ClinGen gnomAD
rs781494346 CA404673448	147	R>W		No	ClinGen ExAC gnomAD
rs756925739 CA9291815	148	R>Q	Variant assessed as Somatic; 5.61e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA404673438 rs1172151996	148	R>W		No	ClinGen gnomAD
CA306032913 rs989023450	150	R>L		No	ClinGen gnomAD
CA404673414 rs989023450	150	R>Q		No	ClinGen gnomAD
rs757916868 CA9291812	151	A>S		No	ClinGen ExAC
CA9291809 rs765241379	153	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9291808 rs754863962	153	R>L		No	ClinGen ExAC gnomAD
CA306032877 rs981703441	154	P>R		No	ClinGen TOPMed gnomAD
CA404673329 rs1276644683	156	R>T		No	ClinGen TOPMed
rs369279878 CA9291806	157	T>S		No	ClinGen ESP ExAC gnomAD
rs1276527288 CA404673280	159	H>R		No	ClinGen gnomAD
CA404673262 rs1471390777	160	I>M		No	ClinGen gnomAD
rs753121204 CA9291801	162	C>*		No	ClinGen ExAC
CA9291802 rs764146908	163	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1330047113 CA404673208	163	E>K		No	ClinGen gnomAD
rs907807943 CA306032844	165	R>C		No	ClinGen TOPMed gnomAD
rs907807943 CA404673184	165	R>G		No	ClinGen TOPMed gnomAD
rs775912056 CA9291799	165	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775912056 CA9291800	165	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776992540 CA9291796	170	K>R		No	ClinGen ExAC gnomAD
rs1174711087 CA404673091 COSM1195878	171	G>C	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs555670452 CA9291793	172	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555670452 CA9291794	172	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555670452 COSM1641083 CA306032825	172	A>T	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1451767226 CA404673050	173	Q>E		No	ClinGen TOPMed
rs1223167732 CA404673038 COSM4131404	173	Q>H	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed
rs757891883 CA9291792	174	A>T		No	ClinGen ExAC gnomAD
CA9291788 CA9291787 rs536054282	175	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs778529369 CA9291790	175	D>N		No	ClinGen ExAC gnomAD
CA9291786 rs755933630	176	V>L		No	ClinGen ExAC TOPMed gnomAD
rs755933630 CA306032806	176	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	185	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369129606 CA306032794	185	G>S		No	ClinGen ESP TOPMed
CA9291783 rs566396701	186	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA404672733 rs1212478405	188	L>P		No	ClinGen gnomAD
CA404672729 rs1212478405	188	L>R		No	ClinGen gnomAD
CA306032780 rs868204906	189	A>T		No	ClinGen Ensembl
rs1313135880 CA404672706	189	A>V		No	ClinGen gnomAD
CA404672702 rs1599525539	190	I>L		No	ClinGen Ensembl
CA9291781 rs765242155	192	K>R		No	ClinGen ExAC gnomAD
CA404672523 rs1599525528	196	D>G		No	ClinGen Ensembl
rs1406132376 CA404672464	198	F>L		No	ClinGen TOPMed
rs1348144597 CA404672444	199	V>E		No	ClinGen TOPMed
rs771338692 CA9291778	199	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM2156757 rs371098180 CA9291776	200	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
TCGA novel	200	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9291777 rs371098180	200	R>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1165886987 CA404672342	203	Y>C		No	ClinGen gnomAD
CA404672232 rs1296548514	208	P>S		No	ClinGen TOPMed
CA404672159 rs1356615950	212	G>S		No	ClinGen TOPMed
rs768218913 CA9291771	215	A>V		No	ClinGen ExAC gnomAD
rs1050853182 CA306032742	218	A>V		No	ClinGen TOPMed
rs1249927317 CA404671996	219	P>H		No	ClinGen TOPMed gnomAD
CA9291770 rs749306333	220	Q>E		No	ClinGen ExAC gnomAD
CA404671927 rs1223479129	223	A>S		No	ClinGen gnomAD
TCGA novel	223	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217231353 CA404671921	223	A>V		No	ClinGen gnomAD
CA9291769 rs780127653	226	T>I		No	ClinGen ExAC gnomAD
rs780799086 CA9291766	228	Y>C		No	ClinGen ExAC gnomAD
rs750203612 CA9291767	228	Y>H		No	ClinGen ExAC gnomAD
CA9291764 rs376723965	229	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	229	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376723965 CA9291765	229	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	233	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404671750 rs1372803110	234	M>I		No	ClinGen TOPMed
rs1459777077 CA404671758	234	M>L		No	ClinGen gnomAD
CA404671754 rs1348464096	234	M>T		No	ClinGen TOPMed gnomAD
rs1459777077 COSM3672775 CA404671759	234	M>V	Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA9291761 rs754390119	236	A>T		No	ClinGen ExAC gnomAD
CA404671665 rs1430932500	240	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404671660 rs1392149270	240	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1392149270 CA404671658	240	R>L		No	ClinGen TOPMed gnomAD
rs1165212243 CA404671544	248	L>F		No	ClinGen TOPMed
CA306032711 rs150514651	249	I>T		No	ClinGen ESP TOPMed
rs766875943 CA9291760	249	I>V		No	ClinGen ExAC gnomAD
TCGA novel	254	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1345142473 CA404669545	260	F>L		No	ClinGen TOPMed gnomAD
rs762255829 CA9291733	266	P>Q		No	ClinGen ExAC gnomAD
rs767996580 CA9291734	266	P>T		No	ClinGen ExAC gnomAD
CA306031271 rs1035061048	267	D>A		No	ClinGen TOPMed
rs1306751408 CA404669441	267	D>E		No	ClinGen gnomAD
CA9291732 rs368686278	267	D>H		No	ClinGen ESP ExAC gnomAD
CA404669430 rs1391269580	268	L>R		No	ClinGen gnomAD
CA9291729 rs528302809	272	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9291730 rs141675608	272	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404669378 rs141675608	272	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404669365 rs1160102817	273	I>L		No	ClinGen gnomAD
TCGA novel	273	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9291727 rs745884795	274	M>T		No	ClinGen ExAC gnomAD
TCGA novel	276	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770758079 CA9291725	279	G>D		No	ClinGen ExAC gnomAD
CA404669233 rs1257742043	281	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1452486212 CA404669119	285	P>H		No	ClinGen TOPMed
CA404669121 rs1229806152	285	P>S		No	ClinGen gnomAD
rs780190388 CA9291720	288	C>W		No	ClinGen ExAC gnomAD
rs1201320788 CA404669006	288	C>Y		No	ClinGen TOPMed
CA9291718 rs750996957	290	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9291717 rs767889101	291	F>S		No	ClinGen ExAC gnomAD
CA9291715 rs752006334	293	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1405353019 CA404668767	295	T>I		No	ClinGen gnomAD
rs764493398 CA9291714	296	C>F		No	ClinGen ExAC
rs1568346834 CA404668752	296	C>G		No	ClinGen Ensembl
CA9291712 rs775000128	297	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	299	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9291710 rs758942089	300	C>Y		No	ClinGen ExAC
rs1386238942 CA404668586	302	S>L		No	ClinGen gnomAD
rs375423667 CA306031255	302	S>P		No	ClinGen ESP
CA404668579 rs1284611987	303	P>S		No	ClinGen gnomAD
TCGA novel	310	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404668366 rs1370136665	311	K>E		No	ClinGen gnomAD
CA404667465 rs1437396291	312	A>D		No	ClinGen TOPMed gnomAD
CA306031219 rs1013484743	312	A>T		No	ClinGen Ensembl
CA404667460 rs1437396291	312	A>V		No	ClinGen TOPMed gnomAD
CA306031217 rs1028990706	315	A>P		No	ClinGen Ensembl
rs1028990706 CA404667413	315	A>S		No	ClinGen Ensembl
CA306031215 rs746055933	316	R>C		No	ClinGen ExAC TOPMed gnomAD
CA306031214 rs868423446	316	R>H		No	ClinGen Ensembl
CA9291682 rs746055933	316	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1371071198 CA404667390	317	Q>E		No	ClinGen gnomAD
rs1170345450 CA404667374	318	G>R		No	ClinGen gnomAD
CA306031213 rs894626012	319	A>D		No	ClinGen gnomAD
TCGA novel	320	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599522153 CA404667357	320	K>R		No	ClinGen Ensembl
rs747576672 CA9291678	326	K>M		No	ClinGen ExAC gnomAD
CA306031208 rs553178516	328	G>S		No	ClinGen 1000Genomes gnomAD
CA9291677 rs778402701	330	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA306031207 rs190922068	330	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA404667137 rs778402701	330	A>V		No	ClinGen ExAC gnomAD
CA306031205 rs1017154349	332	N>K		No	ClinGen TOPMed gnomAD
CA306031203 rs202076995	333	V>L		No	ClinGen gnomAD
CA9291673 rs779284386	335	S>F		No	ClinGen ExAC gnomAD
CA306031199 rs1005725052	338	L>F		No	ClinGen gnomAD
CA404667071 rs1005725052	338	L>V		No	ClinGen gnomAD
CA9291672 rs754597785	341	M>T		No	ClinGen ExAC gnomAD
CA404667021 rs1281207788	342	M>I		No	ClinGen gnomAD
TCGA novel	344	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306031197 rs186428731	344	G>S		No	ClinGen 1000Genomes
rs1309806929 CA404666893	348	P>S		No	ClinGen gnomAD
CA9291667 rs767412487	351	D>G		No	ClinGen ExAC
rs138969474 CA9291665	352	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA404666741 rs1175184306	356	A>G		No	ClinGen gnomAD
CA306031193 rs374194413	356	A>T		No	ClinGen ESP TOPMed
rs759741263 CA404666679	359	T>A		No	ClinGen ExAC gnomAD
CA404666672 rs1479925569	359	T>I		No	ClinGen gnomAD
rs759741263 CA9291663	359	T>S		No	ClinGen ExAC gnomAD
rs1255326358 CA404666667	360	V>M		No	ClinGen TOPMed
CA404666549 rs1261497158	366	H>Q		No	ClinGen gnomAD
CA404666570 rs1444144729	366	H>Y		No	ClinGen gnomAD
CA9291661 rs771183001	368	M>L		No	ClinGen ExAC gnomAD
CA9291660 rs747053634	368	M>R		No	ClinGen ExAC gnomAD
rs1289952803 CA404666525	369	H>R		No	ClinGen TOPMed gnomAD
rs1284654419 CA404666501	370	D>E		No	ClinGen gnomAD
CA404666514 rs1372516589	370	D>N		No	ClinGen gnomAD
CA404666492 rs1449590839	371	K>E		No	ClinGen gnomAD
CA9291658 rs745919339	371	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1464074291 CA404666453	373	V>A		No	ClinGen TOPMed
rs199521781 CA9291656	374	P>L		No	ClinGen ExAC TOPMed gnomAD
CA306031187 rs998316977	374	P>S		No	ClinGen gnomAD
CA404666429 rs1214198567	376	E>Q		No	ClinGen gnomAD
rs1161728290 CA404666396	378	D>H		No	ClinGen gnomAD
CA404666365 rs1410896085	380	R>H		No	ClinGen TOPMed
rs1039561725 CA306031185	380	R>S		No	ClinGen TOPMed
CA9291655 rs755368498	381	M>K		No	ClinGen ExAC gnomAD
rs749002268 CA9291654	383	E>K		No	ClinGen ExAC gnomAD
CA404666164 rs1599521218	387	L>R		No	ClinGen Ensembl
CA9291630 rs149224420	392	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439784952 CA404666129	392	L>P		No	ClinGen TOPMed
CA404666115 rs1181107717	394	D>N		No	ClinGen TOPMed
CA404666096 rs1599521201	396	G>A		No	ClinGen Ensembl
CA404666099 COSM3378644 rs1267882074	396	G>S	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA404666093 rs1201299594	397	S>G		No	ClinGen gnomAD
rs1268103031 CA404666028	405	P>S		No	ClinGen gnomAD
rs1393000400 CA404666009	408	V>I		No	ClinGen gnomAD
CA404665983 rs1312400637	411	L>R		No	ClinGen gnomAD
CA404665985 rs1226286810	411	L>V		No	ClinGen gnomAD
rs773565790 CA9291625	413	H>R		No	ClinGen ExAC TOPMed gnomAD
rs373678410 CA306030906	414	E>K		No	ClinGen ESP TOPMed gnomAD
rs774760937 CA9291622	419	E>D		No	ClinGen ExAC gnomAD
rs1398782281 CA404665915	420	P>T		No	ClinGen gnomAD
CA9291619 rs775849701	421	E>*		No	ClinGen ExAC TOPMed gnomAD
rs770079721 CA9291618	421	E>A		No	ClinGen ExAC TOPMed gnomAD
CA9291620 rs775849701	421	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1479351565 CA404665900	422	P>L		No	ClinGen TOPMed gnomAD
rs745575280 CA9291617	422	P>S		No	ClinGen ExAC gnomAD
rs770384675 CA9291615	423	S>*		No	ClinGen ExAC TOPMed gnomAD
rs780872893 CA9291616	423	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1247885006 CA404665889	424	P>L		No	ClinGen gnomAD
CA404665891 rs1394616505	424	P>S		No	ClinGen TOPMed
rs777099060 CA9291613	425	K>R		No	ClinGen ExAC TOPMed gnomAD
CA306030901 rs958033047	426	A>P		No	ClinGen TOPMed
CA9291608 rs750662437	428	P>L		No	ClinGen ExAC gnomAD
rs140486702 CA9291610	428	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140486702 CA9291609	428	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9291607 rs767748984	429	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9291606 rs761901546	430	P>A		No	ClinGen ExAC gnomAD
rs370658365 CA404665846	431	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9291604 rs370658365	431	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA404665826 rs1338970133	435	P>T		No	ClinGen gnomAD
rs763458545 CA9291603	436	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1159618102 CA404665812	437	D>H		No	ClinGen gnomAD
CA404665813 rs1159618102	437	D>N		No	ClinGen gnomAD
CA404665798 rs1471007929	438	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404665792 rs1362001772	439	K>M		No	ClinGen gnomAD
CA9291602 rs775974530	439	K>N		No	ClinGen ExAC gnomAD
rs1447311953 CA404665786	440	K>W		No	ClinGen TOPMed gnomAD

No associated diseases with Q96I13

1 regional properties for Q96I13

Type	Name	Position	InterPro Accession
domain	ABT1/ESF2, RNA recognition motif	46 - 149	IPR034353

Functions

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

2 GO annotations of cellular component

Name	Definition
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

2 GO annotations of molecular function

Name	Definition
carboxylic ester hydrolase activity	Catalysis of the hydrolysis of a carboxylic ester bond.
lysophosphatidic acid acyltransferase activity	Catalysis of the transfer of acyl groups from an acyl-CoA to lysophosphatidic acid to form phosphatidic acid.

2 GO annotations of biological process

Name	Definition
lipid homeostasis	Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.
phosphatidic acid biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q0V9K2	abhd11	Protein ABHD11	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MLTGVTDGIF	CCLLGTPPNA	VGPLESVESS	DGYTFVEVKP	GRVLRVKHAG	PAPAAAPPPP
70	80	90	100	110	120
SSASSDAAQG	DLSGLVRCQR	RITVYRNGRL	LVENLGRAPR	ADLLHGQNGS	GEPPAALEVE
130	140	150	160	170	180
LADPAGSDGR	LAPGSAGSGS	GSGSGGRRRR	ARRPKRTIHI	DCEKRITSCK	GAQADVVLFF
190	200	210	220	230	240
IHGVGGSLAI	WKEQLDFFVR	LGYEVVAPDL	AGHGASSAPQ	VAAAYTFYAL	AEDMRAIFKR
250	260	270	280	290	300
YAKKRNVLIG	HSYGVSFCTF	LAHEYPDLVH	KVIMINGGGP	TALEPSFCSI	FNMPTCVLHC
310	320	330	340	350	360
LSPCLAWSFL	KAGFARQGAK	EKQLLKEGNA	FNVSSFVLRA	MMSGQYWPEG	DEVYHAELTV
370	380	390	400	410	420
PVLLVHGMHD	KFVPVEEDQR	MAEILLLAFL	KLIDEGSHMV	MLECPETVNT	LLHEFLLWEP
430
EPSPKALPEP	LPAPPEDKK