AiPD: Autoinhibited Protein Database

Q86XS5

Gene name	ANGPTL5 (UNQ5795/PRO19600)
Protein name	Angiopoietin-related protein 5
Names	Angiopoietin-like protein 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:253935
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

13-95 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

13-95 (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 Q86XS5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86XS5-F1	Predicted				AlphaFoldDB

352 variants for Q86XS5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6245032 rs765401643	2	M>K		No	ClinGen ExAC gnomAD
CA6245031 rs761904379	4	P>L		No	ClinGen ExAC gnomAD
rs1477874656 CA382449211	6	Q>R		No	ClinGen gnomAD
rs1233678967 CA382449204	7	A>D		No	ClinGen gnomAD
TCGA novel	7	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233678967 CA382449200	7	A>V		No	ClinGen gnomAD
CA6245028 rs760593828	9	L>V		No	ClinGen ExAC
rs1329614981 CA382449144	10	L>S		No	ClinGen TOPMed
CA6245027 rs144300304	14	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA227551490 rs922570065	14	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	15	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1324147972 CA382449039	15	C>S		No	ClinGen gnomAD
rs1281285426 CA382448977	16	I>S		No	ClinGen TOPMed
rs770759940 CA6245024	18	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6245025 rs759368494	18	I>S		No	ClinGen ExAC TOPMed gnomAD
rs923214842 CA227551469	19	C>*		No	ClinGen TOPMed gnomAD
rs748917714 CA6245022	22	A>D		No	ClinGen ExAC gnomAD
CA382448783 rs748917714	22	A>G		No	ClinGen ExAC gnomAD
CA382448803 rs1279779454	22	A>T		No	ClinGen gnomAD
TCGA novel	22	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6245020 CA6245021 rs769335412	23	V>L		No	ClinGen ExAC gnomAD
CA6245019 rs747486175	24	Q>*		No	ClinGen ExAC gnomAD
rs371425912 CA6245018	24	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408964145 CA382448720	25	G>S		No	ClinGen gnomAD
CA6245016 rs758791765	27	C>R		No	ClinGen ExAC gnomAD
rs750737032 CA6245015	28	V>I		No	ClinGen ExAC gnomAD
CA227551435 rs976730077	30	H>D		No	ClinGen Ensembl
CA227551431 rs139580863	31	S>C		No	ClinGen ESP
CA6245014 rs779227395	32	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6244995 rs772615341	33	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	34	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746339040 CA6244994	34	S>P		No	ClinGen ExAC gnomAD
CA6244993 rs779313358	35	S>L		No	ClinGen ExAC gnomAD
CA382448346 rs1443947528	36	V>L		No	ClinGen TOPMed
COSM922178 rs1336895541 CA382448224	41	E>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1222764912 CA382448214	41	E>A		No	ClinGen TOPMed gnomAD
TCGA novel	41	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778018097 CA6244991	44	S>F		No	ClinGen ExAC gnomAD
rs778018097 CA6244990	44	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1363311287 CA382448076	47	K>N		No	ClinGen gnomAD
CA382448063 rs1398556486	48	D>G		No	ClinGen gnomAD
rs756417169 CA6244988	48	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6244987 rs767678722	49	E>D		No	ClinGen ExAC gnomAD
CA382447989 rs1304056542	50	S>R		No	ClinGen gnomAD
TCGA novel	52	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	52	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244985 rs200831714	53	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751530282 CA6244983	54	D>N		No	ClinGen ExAC gnomAD
rs555410173 CA6244981	56	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs772769005 CA6244980	57	C>Y		No	ClinGen ExAC gnomAD
CA6244979 rs535129848	58	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA6244978 rs201357622	60	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763143984 CA6244977	61	C>*		No	ClinGen ExAC TOPMed gnomAD
CA227551135 rs1015891137	64	S>*		No	ClinGen TOPMed gnomAD
CA382447172 rs1015891137	64	S>L		No	ClinGen TOPMed gnomAD
rs367815497 CA6244975	65	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA382447167 rs1256742808	65	C>R		No	ClinGen gnomAD
rs367815497 CA382447157	65	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6244974 rs768146804	69	T>A		No	ClinGen ExAC gnomAD
rs1260556317 CA382447094	72	T>I		No	ClinGen gnomAD
COSM466196 rs140984722 CA6244973	73	R>*	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs774778474 CA382447091	73	R>L		No	ClinGen ExAC gnomAD
CA6244972 rs774778474	73	R>Q		No	ClinGen ExAC gnomAD
CA382447085 rs1284305108	74	E>G		No	ClinGen gnomAD
CA382447082 rs1407041983	75	E>K		No	ClinGen gnomAD
rs1443023349 COSM1350321 CA382447038	78	F>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA382447043 rs1293099377	78	F>V		No	ClinGen gnomAD
CA227551107 rs80336939	79	M>T		No	ClinGen 1000Genomes gnomAD
CA227551108 rs559906328	79	M>V		No	ClinGen Ensembl
CA382447016 rs1165298381	80	C>Y		No	ClinGen TOPMed
CA6244950 rs763339376	82	N>K		No	ClinGen ExAC gnomAD
rs1591257808 CA382446819	85	N>T		No	ClinGen Ensembl
rs538678287 CA6244948	87	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs773693482 CA6244949	87	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6244947 rs748419339	89	S>C		No	ClinGen ExAC gnomAD
CA382446757 rs1426318438	90	Y>C		No	ClinGen TOPMed
rs781501401 CA6244946	91	T>I		No	ClinGen ExAC gnomAD
CA6244945 rs768890947	93	S>N		No	ClinGen ExAC TOPMed gnomAD
CA227550604 COSM1182735 rs975864795	95	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs140344944 CA6244943 RCV000880439	98	L>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA382446656 rs1307289947	98	L>V		No	ClinGen gnomAD
rs1313435519 CA382446639	100	N>S		No	ClinGen gnomAD
rs750318870 CA6244941	101	M>T		No	ClinGen ExAC gnomAD
CA382446628 rs1565341758	101	M>V		No	ClinGen Ensembl
CA382446602 rs1302018101	102	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs912905299 CA227550584	102	M>L		No	ClinGen gnomAD
rs144888512 CA6244940	103	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382446592 rs144888512	103	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753492408 CA6244938	106	Q>*		No	ClinGen ExAC gnomAD
CA6244936 rs760300183	107	A>P		No	ClinGen ExAC gnomAD
CA382446536 rs760300183	107	A>T		No	ClinGen ExAC gnomAD
rs868372223 CA227550564	108	S>F		No	ClinGen Ensembl
rs752245271 COSM922176 CA6244935	110	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1435733874 CA382446448	114	N>Y		No	ClinGen TOPMed
CA382446125 rs532254397	116	V>D		No	ClinGen 1000Genomes ExAC gnomAD
rs532254397 CA6244921	116	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs369448584 CA227550248	118	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6244919 rs369448584	118	E>Q		No	ClinGen ExAC gnomAD
rs755832350 CA6244918	120	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1307938609 CA382446069	122	R>G		No	ClinGen TOPMed
CA6244917 rs752333159	122	R>K		No	ClinGen ExAC
rs202147597 CA6244915	124	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1356030107 CA382446050	125	L>F		No	ClinGen TOPMed gnomAD
CA227550224 rs765615860	128	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6244913 rs765615860	128	T>P		No	ClinGen ExAC TOPMed gnomAD
rs762384610 CA6244912	130	V>I		No	ClinGen ExAC gnomAD
CA6244911 rs370886281	132	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs761031390 CA6244909	134	Q>*		No	ClinGen ExAC gnomAD
CA382445985 rs983909142	135	L>P		No	ClinGen gnomAD
CA227550194 rs983909142	135	L>R		No	ClinGen gnomAD
rs546596108 CA6244907	135	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs745894564 CA382445973	137	P>H		No	ClinGen ExAC gnomAD
rs745894564 CA6244906	137	P>L		No	ClinGen ExAC gnomAD
CA382445975 rs1384574114	137	P>T		No	ClinGen gnomAD
rs200370035 CA227550186	139	P>S		No	ClinGen 1000Genomes
CA382445954 rs1591257203	140	H>R		No	ClinGen Ensembl
CA382445946 rs1267255890	141	R>T		No	ClinGen TOPMed
CA6244905 rs774366365	142	P>A		No	ClinGen ExAC gnomAD
CA6244904 rs759417696	142	P>L		No	ClinGen ExAC TOPMed gnomAD
CA382445942 rs774366365	142	P>S		No	ClinGen ExAC gnomAD
CA382445933 rs1421986463	144	Q>*		No	ClinGen gnomAD
CA382445919 rs1170454346	146	H>Y		No	ClinGen gnomAD
rs770985278 CA6244884	147	G>D		No	ClinGen ExAC gnomAD
rs375532085 CA6244903	147	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1198414610 CA382445884	149	D>E		No	ClinGen gnomAD
rs533409426 CA6244883	149	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs533409426 CA6244882	149	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6244881 rs769611935	150	C>G		No	ClinGen ExAC gnomAD
CA6244879 rs781021923	153	I>V		No	ClinGen ExAC gnomAD
rs1309243734 CA382445842 CA382445843	155	D>E		No	ClinGen TOPMed gnomAD
CA6244878 rs754624387	155	D>V		No	ClinGen ExAC gnomAD
CA6244877 rs541393851	156	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs573078012 CA6244876	156	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1315644700 CA382445832	157	I>M		No	ClinGen TOPMed
rs372575734 CA6244875	157	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1414212330 CA382445825	159	S>T		No	ClinGen gnomAD
CA6244874 rs754400241	161	T>I		No	ClinGen ExAC gnomAD
CA6244873 rs778384202	162	K>E		No	ClinGen ExAC gnomAD
rs756567463 CA6244872	162	K>T		No	ClinGen ExAC gnomAD
CA6244871 rs757195821 COSM1350319	164	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6244868 rs751746656	165	S>N		No	ClinGen ExAC TOPMed gnomAD
rs371557379 CA6244867	166	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs762983900 CA382445772	168	Y>H		No	ClinGen ExAC gnomAD
CA6244866 rs762983900	168	Y>N		No	ClinGen ExAC gnomAD
TCGA novel	169	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591255970 CA382445764	169	I>V		No	ClinGen Ensembl
rs1485191360 CA382445755	170	I>T		No	ClinGen gnomAD
TCGA novel	173	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591255960 CA382445727	174	G>*		No	ClinGen Ensembl
rs7946238 CA6244864 VAR_055803	175	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1460481287 CA382445721	175	S>Y		No	ClinGen TOPMed
rs776353206 CA6244862	177	Y>C		No	ClinGen ExAC gnomAD
rs761782379 CA6244863	177	Y>H		No	ClinGen ExAC gnomAD
CA6244859 rs779782124	179	F>S		No	ClinGen ExAC gnomAD
rs542494787 CA6244858	180	E>*		No	ClinGen 1000Genomes ExAC
rs1476683287 CA382445178	182	M>I		No	ClinGen gnomAD
CA382445197 rs1424198707	182	M>L		No	ClinGen gnomAD
rs144380533 CA227547780	182	M>T		No	ClinGen 1000Genomes ESP gnomAD
CA601430323 rs1241028574	183	C>*		No	ClinGen TOPMed gnomAD
rs199903298 CA227547773	183	C>Y		No	ClinGen 1000Genomes
TCGA novel	186	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244841 rs541845581	186	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771898220 CA6244840	189	G>E		No	ClinGen ExAC gnomAD
CA382445009 rs1191406006	189	G>R		No	ClinGen gnomAD
CA6244839 rs149631024	190	G>D		No	ClinGen ESP ExAC gnomAD
CA382444994 rs1244452406	190	G>R		No	ClinGen gnomAD
rs149631024 CA6244838	190	G>V		No	ClinGen ESP ExAC gnomAD
rs770418027 CA6244837	191	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6244836 rs3858418	192	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382444925 rs1281249198	193	T>A		No	ClinGen TOPMed gnomAD
rs1307214755 CA382444914	193	T>S		No	ClinGen gnomAD
CA382444887 rs1293045546	195	I>K		No	ClinGen gnomAD
rs183747772 CA6244832	195	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6244833 rs769470490	195	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6244831 rs758689424	196	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA6244830 rs143533861	197	K>E		No	ClinGen ESP ExAC gnomAD
CA227547722 rs1036583761	197	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	200	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382444722 CA382444725 rs1176387720	201	G>R		No	ClinGen TOPMed gnomAD
CA227547709 rs372718593	203	I>V		No	ClinGen ESP gnomAD
rs1439701485 CA382444638	204	D>G		No	ClinGen gnomAD
CA382444644 rs1276454676	204	D>H		No	ClinGen TOPMed
rs1439701485 CA382444635	204	D>V		No	ClinGen gnomAD
rs577573435 CA6244827	205	F>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6244826 rs757290847	207	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA382444552 rs1309081164	208	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
rs966236520 CA227547702	209	W>*		No	ClinGen Ensembl
rs1212631602 CA382444428	215	G>R		No	ClinGen gnomAD
CA6244824 rs764043070	216	F>Y		No	ClinGen ExAC gnomAD
COSM1704472 CA6244823 rs760507880	217	G>E	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA382444400 rs1240985011	218	D>H		No	ClinGen gnomAD
rs1483380136 CA382444367	220	L>V		No	ClinGen TOPMed
CA6244797 rs767427306	222	E>D		No	ClinGen ExAC gnomAD
rs752625689 CA6244798	222	E>K		No	ClinGen ExAC gnomAD
CA382443601 rs1194715875	223	F>L		No	ClinGen gnomAD
rs759364693 CA6244796	225	L>V		No	ClinGen ExAC TOPMed gnomAD
CA382443547 rs1276520977	227	L>M		No	ClinGen gnomAD
CA6244795 rs774170208	227	L>P		No	ClinGen ExAC gnomAD
CA382443517 rs1218707821	229	K>M		No	ClinGen gnomAD
CA6244794 COSM3415417 rs766108959	229	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA227545130 rs867779789	229	K>Q		No	ClinGen Ensembl
rs762486231 CA382443512	230	I>L		No	ClinGen ExAC gnomAD
CA6244793 rs762486231	230	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6244792 rs772847823	231	F>L		No	ClinGen ExAC gnomAD
CA382443479 rs1565338026	232	Y>C		No	ClinGen Ensembl
CA6244790 rs747524689	233	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6244791 rs769176772	233	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6244788 rs138002170	234	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs367960108 CA6244789	234	V>I		No	ClinGen ESP ExAC gnomAD
rs748045063 CA227545096	235	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA382443440 rs1366809371	235	N>S		No	ClinGen TOPMed
rs200590486 CA6244787	236	Q>R		No	ClinGen 1000Genomes ExAC TOPMed
CA6244786 rs771225147	237	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6244785 rs771225147	237	K>T		No	ClinGen ExAC TOPMed gnomAD
CA227545087 rs542925216	238	N>I		No	ClinGen gnomAD
rs1315721169 CA382443359	241	F>S		No	ClinGen gnomAD
TCGA novel rs749465712 CA6244784	242	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs1381221743 CA382443349	242	M>L		No	ClinGen gnomAD
CA227545086 rs1045256770	242	M>T		No	ClinGen TOPMed
rs777966656 CA6244783	246	A>V		No	ClinGen ExAC gnomAD
rs1460319104 CA382443236	251	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	251	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460319104 CA382443234	251	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	253	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244780 rs150362257	253	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA382443194 rs1591250956	254	L>F		No	ClinGen Ensembl
CA382443179 rs1421774017	255	A>S		No	ClinGen gnomAD
rs751414863 CA6244778	256	Y>F		No	ClinGen ExAC gnomAD
CA6244776 rs762728136	259	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs940564532 CA227545047	260	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs749982132 CA6244775	261	N>Y		No	ClinGen ExAC
rs1437042020 CA382443046	263	W>C		No	ClinGen TOPMed
CA6244773 rs764729251	265	E>D		No	ClinGen ExAC gnomAD
TCGA novel	267	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244772 rs77315074	268	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6244770 rs143196444	269	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1226202383 CA382442999	269	R>T		No	ClinGen gnomAD
rs774846058 CA6244768	270	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1394400156 CA382442982 COSM1244939	271	F>L	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs765321536	272	K>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1173421799 CA382442979	272	K>E		No	ClinGen gnomAD
rs1332560499 CA382442964 CA382442965	273	M>I		No	ClinGen TOPMed gnomAD
rs961748906 CA227545002	274	H>N		No	ClinGen TOPMed
rs749530810 CA6244765	274	H>R		No	ClinGen ExAC gnomAD
rs777818263 CA382442952	275	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	276	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA227544983 rs921353165	277	R>Q		No	ClinGen TOPMed gnomAD
CA6244763 rs149099147	277	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6244760 rs755034899	282	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6244762 rs374423446	282	A>T		No	ClinGen ESP ExAC gnomAD
CA6244761 rs755034899	282	A>V		No	ClinGen ExAC TOPMed gnomAD
rs973870798 CA227543174	284	D>N		No	ClinGen TOPMed gnomAD
CA382442580 rs1342634444	285	A>E		No	ClinGen gnomAD
CA382442585 rs1449294751	285	A>T		No	ClinGen gnomAD
rs763486363 CA382442566	286	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1414376898 CA382442574	286	F>L		No	ClinGen gnomAD
rs766846166 CA6244729	286	F>S		No	ClinGen ExAC gnomAD
rs374617528 CA6244726	287	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs773782310 COSM1704471 CA6244727	287	R>W	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6244724 rs776930157	288	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6244725 rs776930157	288	G>S		No	ClinGen ExAC TOPMed gnomAD
CA382442541 rs866525384	290	K>E		No	ClinGen gnomAD
CA227543153 rs866525384	290	K>Q		No	ClinGen gnomAD
TCGA novel	291	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	292	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs182243647 CA6244723	292	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747007871 CA6244722	293	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6244721 rs775615216	295	Q>*		No	ClinGen ExAC gnomAD
CA6244720 rs771940240	297	A>S		No	ClinGen ExAC
CA227543130 rs958403406	298	M>I		No	ClinGen Ensembl
rs144846970 CA6244719	298	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1009987587 CA227543106	299	P>L		No	ClinGen TOPMed gnomAD
rs778736384 CA227543095	301	S>N		No	ClinGen ExAC TOPMed gnomAD
rs778736384 CA6244718	301	S>T		No	ClinGen ExAC TOPMed gnomAD
rs113858530 CA6244717	303	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6244716 rs748943116	305	V>I		No	ClinGen ExAC gnomAD
rs755769571 CA6244714	308	D>G		No	ClinGen ExAC gnomAD
CA382442297 rs755769571	308	D>V		No	ClinGen ExAC gnomAD
CA6244713 rs137857623	309	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382442275 rs1428790951	309	G>V		No	ClinGen gnomAD
COSM922172 CA227543050 rs1046956838	311	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA6244711 rs758888750 COSM199777	311	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA227543032 rs898420412	312	P>S		No	ClinGen Ensembl
rs762224995 CA382442185	314	C>F		No	ClinGen ExAC gnomAD
CA6244708 rs762224995	314	C>Y		No	ClinGen ExAC gnomAD
rs1038572097 CA227543012	315	L>V		No	ClinGen Ensembl
CA382442111 rs1192947691	318	G>D		No	ClinGen TOPMed
rs764269593 CA6244706	319	Q>P		No	ClinGen ExAC gnomAD
rs1591248965 CA382442064	320	S>P		No	ClinGen Ensembl
CA382442017 rs1240995536	322	K>N		No	ClinGen TOPMed gnomAD
rs775497401 CA6244704	323	S>G		No	ClinGen ExAC gnomAD
CA6244703 rs772175969	323	S>T		No	ClinGen ExAC
CA6244702 rs189589528	324	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774206452 CA6244701	327	L>F		No	ClinGen ExAC TOPMed gnomAD
rs201869415 CA6244700	328	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6244698 rs200895384	329	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769401345 CA382441845	331	T>N		No	ClinGen ExAC gnomAD
rs769401345 CA6244697	331	T>S		No	ClinGen ExAC gnomAD
rs780584082 CA227542918	332	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1238493657 CA382441834	332	G>D		No	ClinGen TOPMed
rs780584082 CA6244695	332	G>S		No	ClinGen ExAC TOPMed gnomAD
rs201809845 CA6244693	334	W>G		No	ClinGen ExAC gnomAD
rs779509737 CA6244692	335	F>V		No	ClinGen ExAC gnomAD
COSM199776 CA6244690 CA6244689 rs139900371	336	N>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs757813342 CA6244691	336	N>Y		No	ClinGen ExAC
rs200165022 CA227542877	337	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200165022 CA6244687	337	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767499869 CA382441745	338	C>R		No	ClinGen ExAC TOPMed gnomAD
CA6244685 rs759572295	338	C>S		No	ClinGen ExAC TOPMed gnomAD
rs767499869 CA6244686	338	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1455150633 CA382441689	342	N>K		No	ClinGen gnomAD
CA227542843 rs946256263	344	N>K		No	ClinGen Ensembl
CA382441653 rs369497815	345	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA227542836 rs369497815	345	G>V		No	ClinGen ESP TOPMed gnomAD
rs762875539 CA6244682	346	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6244678 COSM169740 rs780860743	349	F>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747763907 COSM169740 CA6244679	349	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA227542805 rs747763907	349	F>V		No	ClinGen ExAC TOPMed gnomAD
CA6244677 rs142977782	353	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6244675 rs558608655	354	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6244674 rs376406932	361	G>C		No	ClinGen ESP ExAC gnomAD
rs754381808 CA6244673	361	G>D		No	ClinGen ExAC gnomAD
rs754381808 CA382441460	361	G>V		No	ClinGen ExAC gnomAD
CA6244672 rs140148922	362	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs140148922 CA382441450	362	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1025698084 CA227542753 COSM1660523	363	W>*	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs993852413 CA227542748 COSM1660523	363	W>*	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs767829656 CA6244669	364	T>A		No	ClinGen ExAC gnomAD
CA382441421 rs1565336592	364	T>I		No	ClinGen Ensembl
rs866944851 CA227542738	365	K>E		No	ClinGen TOPMed
RCV000888002 rs199645342	366	N>missing		No	ClinVar dbSNP
TCGA novel	366	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382441371 rs1241606976	368	S>P		No	ClinGen TOPMed
CA6244667 rs759723871	369	P>L		No	ClinGen ExAC gnomAD
CA227542732 rs988075453	370	V>I		No	ClinGen TOPMed
rs1392686894 CA382441342	371	K>T		No	ClinGen gnomAD
CA382441331 rs1193613897	372	I>V		No	ClinGen gnomAD
rs1379286671 CA382441264	375	V>L		No	ClinGen gnomAD
CA382441254 rs1175849612	376	S>*		No	ClinGen TOPMed gnomAD
rs751706909 CA6244666	376	S>A		No	ClinGen ExAC gnomAD
rs1175849612 CA382441249	376	S>L		No	ClinGen TOPMed gnomAD
rs1238338516 CA382441234	377	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1480476284 CA382441241	377	M>K		No	ClinGen gnomAD
rs1213252134 CA382441221	378	K>I		No	ClinGen TOPMed gnomAD
rs1194008209 CA382441186	381	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs147151032 CA6244665	382	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	384	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	385	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244662 rs143415747	386	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	386	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761624924 CA6244661	388	K>I		No	ClinGen ExAC gnomAD
rs768460111 CA6244659	389	K>Q		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q86XS5

2 regional properties for Q86XS5

Type	Name	Position	InterPro Accession
conserved_site	Aminoacyl-tRNA synthetase, class I, conserved site	38 - 48	IPR001412
domain	RNA-binding S4 domain	354 - 415	IPR002942

Functions

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

2 GO annotations of cellular component

Name	Definition
collagen-containing extracellular matrix	An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P12799	FGG	Fibrinogen gamma-B chain	Bos taurus (Bovine)	PR
P06399	Fga	Fibrinogen alpha chain	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MMSPSQASLL	FLNVCIFICG	EAVQGNCVHH	STDSSVVNIV	EDGSNAKDES	KSNDTVCKED
70	80	90	100	110	120
CEESCDVKTK	ITREEKHFMC	RNLQNSIVSY	TRSTKKLLRN	MMDEQQASLD	YLSNQVNELM
130	140	150	160	170	180
NRVLLLTTEV	FRKQLDPFPH	RPVQSHGLDC	TDIKDTIGSV	TKTPSGLYII	HPEGSSYPFE
190	200	210	220	230	240
VMCDMDYRGG	GRTVIQKRID	GIIDFQRLWC	DYLDGFGDLL	GEFWLGLKKI	FYIVNQKNTS
250	260	270	280	290	300
FMLYVALESE	DDTLAYASYD	NFWLEDETRF	FKMHLGRYSG	NAGDAFRGLK	KEDNQNAMPF
310	320	330	340	350	360
STSDVDNDGC	RPACLVNGQS	VKSCSHLHNK	TGWWFNECGL	ANLNGIHHFS	GKLLATGIQW
370	380
GTWTKNNSPV	KIKSVSMKIR	RMYNPYFK