AiPD: Autoinhibited Protein Database

Q8N8Q3

Gene name	ENDOV
Protein name	Endonuclease V
Names	hEndoV, Inosine-specific endoribonuclease
Species	Homo sapiens (Human)
KEGG Pathway	hsa:284131
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

225-282 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

225-282 (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

3 structures for Q8N8Q3

Entry ID	Method	Resolution	Chain	Position	Source
4NSP	X-ray	230 A	A	13-250	PDB
6OZE	X-ray	150 A	A	9-254	PDB
AF-Q8N8Q3-F1	Predicted				AlphaFoldDB

340 variants for Q8N8Q3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1046976274 CA294919307	2	A>G		No	ClinGen TOPMed gnomAD
rs770720912 CA8823464	2	A>S		No	ClinGen ExAC TOPMed gnomAD
CA401394857 rs770720912	2	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1046976274 CA294919310	2	A>V		No	ClinGen TOPMed gnomAD
rs943900073 CA294919317	3	L>P		No	ClinGen TOPMed gnomAD
rs943900073 CA401394887	3	L>R		No	ClinGen TOPMed gnomAD
CA8823467 rs769015056	3	L>V		No	ClinGen ExAC TOPMed
CA401394889 rs1317856593	4	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1419948226 CA401394907	5	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs762073392 CA8823469	5	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1295539603 CA401394926	6	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs773575315 CA8823471	7	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1434054998 CA401394952	8	G>E		No	ClinGen TOPMed gnomAD
CA8823473 rs766607283	8	G>R		No	ClinGen ExAC TOPMed gnomAD
rs202151662 CA8823478	9	P>L		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs755123132 CA8823477	9	P>S		No	ClinGen ExAC gnomAD
rs755123132 CA8823476	9	P>T		No	ClinGen ExAC gnomAD
rs375994328 CA8823480	10	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375994328 CA8823481	10	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1189962563 CA401394984	10	P>S		No	ClinGen TOPMed
rs778746332 CA8823485	11	E>A		No	ClinGen ExAC gnomAD
rs756929101 CA8823484	11	E>K		No	ClinGen ExAC TOPMed gnomAD
rs771668570 CA8823487	13	T>M		No	ClinGen ExAC gnomAD
CA8823486 rs543609157	13	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA401395047 rs1481079189	14	L>V		No	ClinGen TOPMed gnomAD
CA401395068 rs1187514805	15	S>L		No	ClinGen TOPMed gnomAD
rs1476410456 CA401395093	17	W>*		No	ClinGen TOPMed gnomAD
rs1166155409 CA401395100	17	W>C		No	ClinGen gnomAD
CA294919370 rs372405906	18	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA401395115 rs1408777581	18	K>N		No	ClinGen gnomAD
CA8823490 rs372405906	18	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8823491 rs773520311	19	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1354622074 CA401395121	19	R>P		No	ClinGen gnomAD
CA401395118 rs773520311	19	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1438712812 CA401395271	21	Q>*		No	ClinGen TOPMed gnomAD
rs1438712812 CA401395269	21	Q>E		No	ClinGen TOPMed gnomAD
rs1029602012 CA294919636	22	A>G		No	ClinGen TOPMed gnomAD
rs1323899520 CA401395285	22	A>T		No	ClinGen gnomAD
CA401395291 rs1029602012	22	A>V		No	ClinGen TOPMed gnomAD
rs200194139 CA8823528	23	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1203796452 CA401395303	23	R>P		No	ClinGen TOPMed
CA8823527 rs200194139	23	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373606809 CA294919647	26	A>V		No	ClinGen ESP TOPMed gnomAD
rs779280003 CA8823531	27	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1380626802 CA401395368	27	H>Y		No	ClinGen TOPMed
CA401395399 rs1599266817	28	V>G		No	ClinGen Ensembl
VAR_046285 rs35549084 CA8823534	29	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8823535 rs760794018	31	R>P		No	ClinGen ExAC TOPMed gnomAD
CA294919655 rs760794018	31	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1180521654 CA401395439	31	R>W		No	ClinGen TOPMed gnomAD
CA401395447 rs1470992486	32	D>N		No	ClinGen gnomAD
rs796453594 CA294919659	33	T>S		No	ClinGen gnomAD
rs776852341 CA8823537	35	A>G		No	ClinGen ExAC gnomAD
rs1385424375 CA401395501	35	A>P		No	ClinGen TOPMed
CA401395508 rs776852341	35	A>V		No	ClinGen ExAC gnomAD
CA294919666 rs946260585	36	W>R		No	ClinGen TOPMed gnomAD
CA8823538 rs761781323	37	Q>R		No	ClinGen ExAC gnomAD
rs1396733613 CA401395555	38	R>*		No	ClinGen TOPMed gnomAD
rs765284188 CA8823539	38	R>Q		No	ClinGen ExAC gnomAD
rs1599267343 CA401395564	39	D>H		No	ClinGen Ensembl
CA8823540 rs750197418	40	P>A		No	ClinGen ExAC TOPMed gnomAD
rs762700200 CA8823541	40	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762700200 CA401395594	40	P>R		No	ClinGen ExAC TOPMed gnomAD
CA401395599 rs1334624939	41	A>T		No	ClinGen TOPMed gnomAD
CA8823543 rs751231316	42	F>L		No	ClinGen ExAC gnomAD
rs1247890084 CA401395639	43	S>*		No	ClinGen gnomAD
rs1194726174 CA401395636	43	S>A		No	ClinGen gnomAD
TCGA novel	43	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247890084 CA401395641	43	S>W		No	ClinGen gnomAD
rs754482363 CA8823544	44	G>S		No	ClinGen ExAC
CA401395671 rs1449040228	45	L>R		No	ClinGen TOPMed
rs886858742 CA294919688	46	Q>H		No	ClinGen gnomAD
rs906859120 CA294919694	49	G>E		No	ClinGen TOPMed
rs1474118673 CA401395748	50	G>V		No	ClinGen gnomAD
rs757712981 CA8823548	51	V>I		No	ClinGen ExAC gnomAD
rs746220237 CA401395791 CA401395794	53	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746220237 CA8823551	53	V>M		No	ClinGen ExAC TOPMed gnomAD
CA401395816 rs202223389	54	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401395807 rs1394425476	54	S>P		No	ClinGen gnomAD
rs202223389 CA8823552	54	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401395829 rs1355108949	55	F>S		No	ClinGen gnomAD
CA294919705 rs763776226	56	V>L		No	ClinGen gnomAD
rs1295563614 CA401395864	57	K>R		No	ClinGen gnomAD
CA401395872 rs1246890817	58	G>R		No	ClinGen TOPMed
CA401395911 rs1433162614	60	S>G		No	ClinGen TOPMed
CA8823557 rs377339183	62	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377339183 CA8823556	62	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA401395961 rs769828483	63	A>D		No	ClinGen ExAC TOPMed gnomAD
rs370340349 CA401395958	63	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370340349 CA8823558	63	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs769828483 CA8823559	63	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1279120802 CA401395972	64	C>G		No	ClinGen gnomAD
rs773076902 CA8823561	65	A>S		No	ClinGen ExAC TOPMed gnomAD
CA401396016 rs766155697	67	L>M		No	ClinGen ExAC gnomAD
rs1371356550 CA401396022	67	L>P		No	ClinGen gnomAD
CA401396024 rs1371356550	67	L>Q		No	ClinGen gnomAD
CA8823563 rs766155697	67	L>V		No	ClinGen ExAC gnomAD
CA401396037 rs1431672831	68	V>G		No	ClinGen gnomAD
CA294919737 rs375071073	69	V>L		No	ClinGen ESP TOPMed
rs1373975025 CA401396064	70	L>P		No	ClinGen TOPMed
CA8823566 rs767179610	70	L>V		No	ClinGen ExAC gnomAD
CA401396104 rs1403369366	72	F>L		No	ClinGen TOPMed gnomAD
rs1382103871 CA401396107	73	P>A		No	ClinGen gnomAD
CA401396121 rs765760407	74	E>G		No	ClinGen ExAC gnomAD
CA8823569 rs765760407	74	E>V		No	ClinGen ExAC gnomAD
rs1014699843 CA294919747	75	L>V		No	ClinGen TOPMed
CA401396149 rs1328753266	76	E>Q		No	ClinGen TOPMed gnomAD
rs761422870 CA8823608	78	V>A		No	ClinGen ExAC gnomAD
rs1321728567 CA401399144	78	V>L		No	ClinGen gnomAD
rs1454625897 CA401399166	79	Y>*		No	ClinGen TOPMed
CA8823609 rs372695550	79	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs372695550 CA401399163	79	Y>F		No	ClinGen ESP ExAC gnomAD
rs1599357586 CA401399151	79	Y>N		No	ClinGen Ensembl
rs1327558055 CA401399172	80	E>*		No	ClinGen gnomAD
rs1327558055 CA401399177	80	E>K		No	ClinGen gnomAD
rs1230736437 CA401399193	81	E>K		No	ClinGen gnomAD
CA8823610 rs752174189	82	S>R		No	ClinGen ExAC TOPMed gnomAD
CA401399233 rs1334820712	83	R>C		No	ClinGen TOPMed gnomAD
rs759977970 CA8823611	83	R>H	Variant assessed as Somatic; 5.343e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA401399242 rs759977970	83	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8823612 rs767930622	84	M>V		No	ClinGen ExAC gnomAD
rs1180675959 CA401399288	86	S>N		No	ClinGen gnomAD
CA401399297 rs1249296498	86	S>R		No	ClinGen gnomAD
rs990878951 CA294922083	87	L>F		No	ClinGen gnomAD
rs1159515424 CA401399307	87	L>R		No	ClinGen TOPMed
CA401399312 rs1456386378	88	T>A		No	ClinGen gnomAD
rs753126824 CA8823613	89	A>P		No	ClinGen ExAC gnomAD
CA8823614 rs753126824	89	A>S		No	ClinGen ExAC gnomAD
rs573851518 CA8823615	89	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8823617 rs367553290	90	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401399344 rs1439536895	90	P>R		No	ClinGen gnomAD
CA8823618 rs367553290	90	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371311997 CA8823620	91	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs779773085 CA8823621	92	V>M		No	ClinGen ExAC TOPMed gnomAD
CA294922116 rs369178212	93	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs369178212 CA8823624	93	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs769500007 CA8823626	95	F>L		No	ClinGen ExAC TOPMed gnomAD
rs772855446 CA8823627	96	L>V		No	ClinGen ExAC gnomAD
CA401399460 rs1483863995	97	A>D		No	ClinGen gnomAD
CA8823629 rs372942612	98	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8823630 rs35171431	99	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8823633 rs370977155	99	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370977155 CA8823632	99	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370977155 CA8823631	99	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1368935186 CA401399509	101	V>E		No	ClinGen gnomAD
CA8823635 rs765241901	101	V>L		No	ClinGen ExAC gnomAD
rs1308945385 CA401399522	102	P>S		No	ClinGen TOPMed gnomAD
CA401399517 rs1308945385	102	P>T		No	ClinGen TOPMed gnomAD
CA401399572 rs1394759392	105	L>P		No	ClinGen gnomAD
CA401399600 rs780002339 CA8823638	106	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8823637 rs377732244	106	E>K		No	ClinGen ESP ExAC gnomAD
CA401399580 rs377732244	106	E>Q		No	ClinGen ESP ExAC gnomAD
rs746754546 CA8823640	109	Q>R		No	ClinGen ExAC gnomAD
CA8823642 rs780707117	110	Q>H		No	ClinGen ExAC gnomAD
CA8823641 rs754864364	110	Q>L		No	ClinGen ExAC gnomAD
CA294922160 rs765952369	111	L>P		No	ClinGen Ensembl
rs549246635 CA8823644	112	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs34933300 CA401399677	112	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34933300 VAR_046286 CA8823645	112	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8823643 rs549246635	112	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748840023 CA8823646	113	E>Q		No	ClinGen ExAC gnomAD
VAR_046287 CA8823647 rs41298706	114	K>R		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP
TCGA novel	115	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8823648 rs547186198	116	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547186198 CA8823649	116	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8823653 rs765471505	119	M>I		No	ClinGen ExAC gnomAD
rs761972291 CA8823652	119	M>K		No	ClinGen ExAC gnomAD
CA8823651 rs373201269	119	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377324489 CA401399794	120	P>A		No	ClinGen gnomAD
CA401399804 rs1289959848	120	P>L		No	ClinGen TOPMed
CA294922185 rs890159318	121	Q>E		No	ClinGen TOPMed gnomAD
CA401399808 rs890159318	121	Q>K		No	ClinGen TOPMed gnomAD
CA401399903 rs1254424912	122	V>G		No	ClinGen gnomAD
CA401399897 rs1599363440	122	V>I		No	ClinGen Ensembl
rs894438252 CA294922313	124	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8823689 rs192388023	124	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8823690 rs769171987	126	D>N		No	ClinGen ExAC gnomAD
CA294922319 rs1006087921	127	G>E		No	ClinGen Ensembl
rs1164931154 CA401400012	129	G>A		No	ClinGen gnomAD
rs1016081176 CA294922324	129	G>R		No	ClinGen TOPMed gnomAD
rs184854277 CA8823692	130	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401400029 rs184854277	130	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	130	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	130	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770208178 CA8823693	131	L>F		No	ClinGen ExAC gnomAD
rs999416274 CA294922329	131	L>P		No	ClinGen TOPMed gnomAD
CA8823694 rs547221124	132	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs763106798 CA8823695	133	H>L		No	ClinGen ExAC gnomAD
CA8823696 rs565329204	134	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401400081 rs1315909911	134	R>Q		No	ClinGen gnomAD
rs998076142 CA294923064	135	G>V		No	ClinGen TOPMed
CA8823723 rs548277311	137	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA401400208 rs1386412540	137	G>R		No	ClinGen gnomAD
CA8823724 rs41299812 RCV000827716 VAR_046288	141	H>Y		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1273389374 CA401400248	143	G>D		No	ClinGen gnomAD
rs1273389374 CA401400250	143	G>V		No	ClinGen gnomAD
CA8823727 rs764925581	144	V>A		No	ClinGen ExAC gnomAD
CA8823726 rs373243964	144	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327774235 CA401400266	146	T>I		No	ClinGen TOPMed gnomAD
rs1210054519 CA401400274	147	D>E		No	ClinGen gnomAD
rs750107967 CA8823728	149	P>L		No	ClinGen ExAC TOPMed gnomAD
rs958143181 CA294923078	150	C>F		No	ClinGen TOPMed
CA401400302 rs1196333891	152	G>A		No	ClinGen gnomAD
TCGA novel	152	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370464093 CA401400306	153	V>L		No	ClinGen TOPMed
COSM1589338 CA401400323 COSM985720 rs114008153	155	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA401400330 rs1181248764	156	K>N		No	ClinGen gnomAD
CA8823731 rs569079997	159	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA401400346 rs1473533842	159	Q>R		No	ClinGen gnomAD
CA401400355 rs1161386637	160	V>A		No	ClinGen gnomAD
TCGA novel	164	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321790401 CA401400379	164	E>V		No	ClinGen gnomAD
rs1419613125 CA401400387	165	N>S		No	ClinGen Ensembl
rs756577179 CA401400397	166	N>K		No	ClinGen ExAC TOPMed gnomAD
CA401400395 rs1442459145	166	N>S		No	ClinGen TOPMed gnomAD
rs900294768 CA294923090	167	A>P		No	ClinGen TOPMed gnomAD
CA294923087 rs900294768	167	A>T		No	ClinGen TOPMed gnomAD
CA401400402 rs1349103103	167	A>V		No	ClinGen gnomAD
rs1568227929 CA401400415	169	H>Q		No	ClinGen Ensembl
rs1032740034 CA294923099	170	K>E		No	ClinGen TOPMed gnomAD
rs1207594929 CA401400420	170	K>R		No	ClinGen gnomAD
CA294923101 rs1046607650	172	K>N		No	ClinGen TOPMed
rs199843685 CA8823769	174	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8823770 rs200492190	174	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8823771 rs774049161	175	L>P		No	ClinGen ExAC TOPMed gnomAD
rs759043082 CA8823772	176	L>P		No	ClinGen ExAC gnomAD
CA294923895 rs763806461	178	T>A		No	ClinGen Ensembl
CA8823774 rs1223292679	179	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1223292679 CA401401056	179	R>G		No	ClinGen TOPMed gnomAD
rs1018548551 CA294923910	179	R>Q		No	ClinGen TOPMed gnomAD
CA401401089 rs1208185105	180	G>R		No	ClinGen gnomAD
CA401401120 rs1414667017	181	D>G		No	ClinGen TOPMed
TCGA novel	181	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374533284 CA8823777	182	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8823779 rs368043046	183	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1431780991 CA401401193	184	P>L		No	ClinGen TOPMed gnomAD
CA8823780 rs765813578	184	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1455559756 CA401401218	186	L>R		No	ClinGen TOPMed
CA401401258 rs1033354172	189	S>A		No	ClinGen gnomAD
CA294923924 rs1033354172	189	S>P		No	ClinGen gnomAD
rs750730169 CA8823781	190	G>E		No	ClinGen ExAC TOPMed gnomAD
CA401401284 rs1204942875	191	T>S		No	ClinGen TOPMed gnomAD
rs372176181 CA8823783	193	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA401401335 rs1349726931	194	G>E		No	ClinGen gnomAD
CA401401327 rs1283766310	194	G>R		No	ClinGen gnomAD
CA8823784 rs751761906	195	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1354969538 CA401402074	196	A>T		No	ClinGen gnomAD
CA8823804 rs370224076	197	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1302286269 CA401402092	198	R>G		No	ClinGen gnomAD
rs1380717313 CA401402113 CA401402114	199	S>R		No	ClinGen gnomAD
rs1364813201 CA401402145	201	D>G		No	ClinGen gnomAD
rs35929621 CA8823806	201	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_046289 rs35929621 CA8823805	201	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8823808 rs756279464	202	R>C		No	ClinGen ExAC TOPMed
CA401402161 rs777566968	202	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777566968 CA8823809	202	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	203	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA294924256 rs1039872937	203	S>N		No	ClinGen TOPMed gnomAD
rs749158497 CA8823810	204	T>I		No	ClinGen ExAC gnomAD
rs757201690 CA401402201	205	R>S		No	ClinGen ExAC TOPMed gnomAD
CA401402220 rs1462249146	206	P>L		No	ClinGen gnomAD
rs1261855907 CA401402204	206	P>S		No	ClinGen gnomAD
CA401402228 rs1183725021	207	L>F		No	ClinGen TOPMed gnomAD
rs1247027812 CA401402231	207	L>H		No	ClinGen gnomAD
rs867886012 CA294924270	208	Y>*		No	ClinGen Ensembl
CA401402238 rs1376268444	208	Y>C		No	ClinGen gnomAD
CA8823812 rs377061973	209	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA401402249 rs377061973	209	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3742503 rs369225866 CA8823815 COSM3742502	211	V>M	liver Variant assessed as Somatic; 6.083e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA401402291 rs1467820980	212	G>A		No	ClinGen TOPMed
CA8823816 rs775271641	212	G>S		No	ClinGen ExAC gnomAD
rs914730518 CA294924304	214	R>G		No	ClinGen TOPMed
rs746492820 CA8823817	215	M>I		No	ClinGen ExAC gnomAD
rs947608527 CA294924306	215	M>L		No	ClinGen TOPMed gnomAD
rs947608527 CA401402326	215	M>V		No	ClinGen TOPMed gnomAD
rs11558173 CA8823818	216	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs11558173 CA8823819	216	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1363051972 CA401402385	219	A>T		No	ClinGen gnomAD
rs774828826 CA8823822	219	A>V		No	ClinGen ExAC gnomAD
rs370766897 CA8823825	220	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8823824 rs370766897	220	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM985721 CA401402402 rs1203669623 COSM1589336	220	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8823826 rs756296249	221	V>A		No	ClinGen ExAC gnomAD
rs764178841 CA8823827	222	R>C		No	ClinGen ExAC gnomAD
CA8823828 rs775146831	222	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA294924341 rs1057228950	223	L>P		No	ClinGen TOPMed gnomAD
rs1480728094 CA401402444	224	T>I		No	ClinGen gnomAD
CA401402447 rs1599404961	225	C>G		No	ClinGen Ensembl
rs778869443 CA8823830	226	C>S		No	ClinGen ExAC gnomAD
CA401402482 rs1346070673	227	C>Y		No	ClinGen gnomAD
CA8823832 rs745648767	228	C>S		No	ClinGen ExAC gnomAD
CA8823834 rs374434149	229	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1599405258 CA401402519	230	F>V		No	ClinGen Ensembl
CA401402528 rs376958092	231	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs139905366 CA8823836	231	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8823835 rs376958092	231	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	233	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401402581 rs1284503231	235	P>S		No	ClinGen gnomAD
rs200727944 CA8823840	236	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8823841 rs771546462	237	R>C		No	ClinGen ExAC TOPMed gnomAD
rs562125959 CA8823842	237	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294924454 rs562125959	237	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294924462 rs868150805	238	Q>K		No	ClinGen Ensembl
rs1181407116 CA401402611	238	Q>R		No	ClinGen gnomAD
rs762027111 CA8823867	241	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1318904884 CA401403632	242	C>W		No	ClinGen gnomAD
CA8823868 rs375315445	244	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1568245913 CA401403653	246	H>Y		No	ClinGen Ensembl
rs1291366698 CA401403663	247	I>T		No	ClinGen gnomAD
rs202048384 CA8823869	248	R>C		No	ClinGen ExAC TOPMed gnomAD
rs202048384 CA294928905	248	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8823870 rs762904750	248	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401403667 rs762904750	248	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8823871 rs371356823	250	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419263795 CA401403700	254	P>A		No	ClinGen gnomAD
CA8823875 rs780990662	255	G>R		No	ClinGen ExAC gnomAD
CA8823877 rs755845235	258	T>A		No	ClinGen ExAC gnomAD
rs772602497	259	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs544071697 CA8823879	259	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544071697 CA8823878	259	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353793484 CA401403729	259	P>S		No	ClinGen gnomAD
rs34292553 CA8823900	261	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs747412732 CA8823901	262	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747412732 CA8823902	262	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8823904 rs372710137	264	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	265	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200540042 CA294929677	266	R>S		No	ClinGen gnomAD
CA401403793 rs1484762159	267	P>L		No	ClinGen gnomAD
CA401403789 rs1599453687	267	P>S		No	ClinGen Ensembl
rs1599453792 CA401403799	268	V>G		No	ClinGen Ensembl
CA401403800 rs1420058583	269	A>S		No	ClinGen gnomAD
CA8823908 rs546329630	269	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8823909 rs564527072	270	C>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8823911 rs767597259	270	C>W		No	ClinGen ExAC gnomAD
CA8823910 rs759501595	270	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA401403815 rs1330552153	271	P>R		No	ClinGen TOPMed
rs1463631731 CA401403829	273	G>E		No	ClinGen TOPMed
TCGA novel	273	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8823912 rs375970007	276	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8823994 rs749125934	282	C>R		No	ClinGen ExAC gnomAD

No associated diseases with Q8N8Q3

No regional properties for Q8N8Q3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8N8Q3

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cytoplasm Nucleus, nucleolus Cytoplasm, Stress granule	Relocalizes to cytoplasmic stress granules upon cellular stress where it colocalizes with PABPC1
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic stress granule	A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.

5 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
endodeoxyribonuclease activity, producing 5'-phosphomonoesters	Catalysis of the hydrolysis of ester linkages within deoxyribonucleic acids by creating internal breaks to yield 5'-phosphomonoesters.
endoribonuclease activity, producing 5'-phosphomonoesters	Catalysis of the hydrolysis of ester linkages within ribonucleic acids by creating internal breaks to yield 5'-phosphomonoesters.
magnesium ion binding	Binding to a magnesium (Mg) ion.
single-stranded RNA binding	Binding to single-stranded RNA.

1 GO annotations of biological process

Name	Definition
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8C9A2	Endov	Endonuclease V	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MALEAAGGPP	EETLSLWKRE	QARLKAHVVD	RDTEAWQRDP	AFSGLQRVGG	VDVSFVKGDS
70	80	90	100	110	120
VRACASLVVL	SFPELEVVYE	ESRMVSLTAP	YVSGFLAFRE	VPFLLELVQQ	LREKEPGLMP
130	140	150	160	170	180
QVLLVDGNGV	LHHRGFGVAC	HLGVLTDLPC	VGVAKKLLQV	DGLENNALHK	EKIRLLQTRG
190	200	210	220	230	240
DSFPLLGDSG	TVLGMALRSH	DRSTRPLYIS	VGHRMSLEAA	VRLTCCCCRF	RIPEPVRQAD
250	260	270	280
ICSREHIRKS	LGLPGPPTPR	SPKAQRPVAC	PKGDSGESSA	LC