AiPD: Autoinhibited Protein Database

Q5XG87

Gene name	TENT4A
Protein name	Terminal nucleotidyltransferase 4A
Names	DNA polymerase sigma, LAK-1, Non-canonical poly(A) RNA polymerase PAPD7, PAP-associated domain-containing protein 7, TRAMP-like complex polyadenylate polymerase, Terminal guanylyltransferase, Terminal uridylyltransferase 5, TUTase 5, Topoisomerase-related function protein 4-1, TRF4-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11044
EC number	2.7.7.19: Nucleotidyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

9-192 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

9-192 (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 Q5XG87

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5XG87-F1	Predicted				AlphaFoldDB

425 variants for Q5XG87

Variant ID(s)	Position	Change	Diseaes Association	Provenance
CA813268507 rs1297064589	5	E>G	No	ClinGen TOPMed
CA1525272525 rs1561021906	11	G>K	No	ClinGen Ensembl
rs1375991690 CA813268522	18	A>T	No	ClinGen TOPMed
CA113751755 rs966736137	18	A>V	No	ClinGen TOPMed gnomAD
rs1427201395 CA813268523	22	C>H	No	ClinGen TOPMed
rs1183098370 CA557629609	26	P>I	No	ClinGen TOPMed gnomAD
rs979587351 CA113751759	27	A>A	No	ClinGen TOPMed gnomAD
rs965336716 CA113751769	33	A>A	No	ClinGen TOPMed
rs1561021927 CA1525272571	34	A>A	No	ClinGen Ensembl
CA813268528 rs1485669177	34	A>R	No	ClinGen TOPMed
CA813268532 rs1482093185	36	A>D	No	ClinGen TOPMed
CA813268531 rs1213127523	36	A>S	No	ClinGen TOPMed
CA813268536 rs1482093185	36	A>V	No	ClinGen TOPMed
rs1341719441 CA813268555	37	A>L	No	ClinGen TOPMed
rs1232385885 CA813268560	39	R>F	No	ClinGen TOPMed
rs1407486750 CA813268566	41	S>V	No	ClinGen TOPMed
CA813268572 rs1328917502	46	P>Q	No	ClinGen TOPMed
CA557629613 rs1162407772	48	L>R	No	ClinGen TOPMed gnomAD
CA813268579 rs1471885020	51	A>V	No	ClinGen TOPMed
CA557629618 rs1171508862	53	P>T	No	ClinGen TOPMed gnomAD
CA557629619 rs1354484095	54	P>S	No	ClinGen TOPMed gnomAD
rs1460859880 CA557629621	55	P>V	No	ClinGen TOPMed gnomAD
rs868116868 CA113751818	56	P>G	No	ClinGen TOPMed gnomAD
CA557629623 rs1356242677	59	T>P	No	ClinGen TOPMed gnomAD
CA557629625 rs1291708677	60	A>D	No	ClinGen TOPMed gnomAD
rs752272595 CA113751833	60	A>S	No	ClinGen TOPMed gnomAD
rs1291708677 CA813268592	60	A>V	No	ClinGen TOPMed gnomAD
rs1208450457 CA813268594	63	A>A	No	ClinGen Ensembl
rs1208450457 CA1525272691	63	A>V	No	ClinGen Ensembl
CA813268601 rs1372504764	65	P>S	No	ClinGen TOPMed
rs1443657627 CA813268604	67	A>V	No	ClinGen TOPMed
CA813268617 rs1324742762	69	L>S	No	ClinGen TOPMed
CA813268612 rs1324742762	69	L>T	No	ClinGen TOPMed
CA813268630 rs1456178581	71	A>V	No	ClinGen TOPMed
CA113751868 rs1055048577	74	P>Q	No	ClinGen TOPMed gnomAD
CA557629630 rs1055048577	74	P>R	No	ClinGen TOPMed gnomAD
rs1002565750 CA113751859	74	P>S	No	ClinGen TOPMed
rs1274874673 CA813268661	75	A>L	No	ClinGen TOPMed
rs1305546624 CA557629632	77	E>S	No	ClinGen TOPMed gnomAD
rs1342208109 CA813268676	78	G>S	No	ClinGen TOPMed
CA113751877 rs1013553075	80	R>P	No	ClinGen TOPMed gnomAD
CA813268689 rs1013553075	80	R>T	No	ClinGen TOPMed gnomAD
rs1020887001 CA113751887	83	H>V	No	ClinGen TOPMed gnomAD
CA813268704 rs966767181	85	S>A	No	ClinGen TOPMed gnomAD
rs1173068931 CA813268708	85	S>L	No	ClinGen TOPMed
CA113751896 rs966767181	85	S>S	No	ClinGen TOPMed gnomAD
CA113751897 rs1000869697	86	P>A	No	ClinGen TOPMed gnomAD
CA813268713 rs1000869697	86	P>T	No	ClinGen TOPMed gnomAD
rs1408563580 CA557629641	87	S>P	No	ClinGen TOPMed gnomAD
rs1349621719 CA813268756	93	S>R	No	ClinGen TOPMed
CA113751906 rs1032955277	94	S>S	No	ClinGen TOPMed
CA557629643 rs1178932211	95	S>V	No	ClinGen TOPMed gnomAD
CA557629644 rs1376563071	97	S>G	No	ClinGen gnomAD
CA813268776 rs1312353808	100	E>G	No	ClinGen TOPMed
CA557629645 rs1434218139	101	S>C	No	ClinGen TOPMed gnomAD
CA813268790 rs1428107883	103	T>R	No	ClinGen TOPMed
CA113751932 rs923536447	103	T>Y	No	ClinGen TOPMed
CA813268796 rs1420037423	106	P>A	No	ClinGen TOPMed
CA1072897427 rs1420037423	106	P>S	No	ClinGen TOPMed
CA113751934 rs954915147	111	S>T	No	ClinGen TOPMed
CA113751940 rs986484689	112	S>L	No	ClinGen TOPMed
CA813268827 rs1307701166	114	S>F	No	ClinGen TOPMed
rs1293161543 CA813268835	117	S>C	No	ClinGen TOPMed
CA813268841 rs1293161543	117	S>F	No	ClinGen TOPMed
CA113751976 rs937846448	119	G>T	No	ClinGen TOPMed gnomAD
rs1355267680 CA813268848	126	G>T	No	ClinGen TOPMed
rs1474077695 CA813268852	127	G>S	No	ClinGen TOPMed
CA113751993 rs1055337455	128	A>R	No	ClinGen TOPMed
CA813268865 rs1247872856	131	N>L	No	ClinGen TOPMed
rs1252639484 CA813268878	136	A>T	No	ClinGen TOPMed
rs1207091012 CA813268879	137	P>W	No	ClinGen TOPMed
CA813268889 rs1357914955	142	T>R	No	ClinGen TOPMed
CA813268892 rs1357914955	142	T>S	No	ClinGen TOPMed
rs1460047401 CA813268920	145	G>P	No	ClinGen TOPMed
CA813268927 rs1393523935	146	H>S	No	ClinGen TOPMed
CA813268930 rs1463007836	147	P>S	No	ClinGen TOPMed
rs1180480415 CA813268942	156	G>S	No	ClinGen TOPMed
CA1525273033 rs1579441259	156	G>V	No	ClinGen Ensembl
CA813268943 rs1419101372	158	P>I	No	ClinGen TOPMed
rs1252268760 CA813268951	160	Q>S	No	ClinGen TOPMed
rs1239983436 CA557629665	161	H>S	No	ClinGen TOPMed gnomAD
CA113752031 rs1042376699	162	Q>K	No	ClinGen TOPMed
CA113752032 rs902512589	163	F>P	No	ClinGen TOPMed gnomAD
rs1000942678 CA113752039	164	H>D	No	ClinGen TOPMed
CA557629666 rs1396235805	168	R>R	No	ClinGen gnomAD
rs559941746 CA113752049	169	K>L	No	ClinGen 1000Genomes TOPMed gnomAD
rs1309211948 CA813268977	170	R>C	No	ClinGen TOPMed
rs918757547 CA113752050	171	E>A	No	ClinGen Ensembl
rs1382305923 CA557629672	172	N>S	No	ClinGen gnomAD
CA1525273088 rs1382305923	172	N>T	No	ClinGen gnomAD
CA113752053 rs867135528	174	A>L	No	ClinGen TOPMed gnomAD
rs1438371456 CA557629682	182	L>E	No	ClinGen gnomAD
CA813269000 rs1442751654	186	S>R	No	ClinGen TOPMed
CA557629685 rs1232082498	199	A>V	No	ClinGen TOPMed gnomAD
CA113752114 rs1015303364	204	P>F	No	ClinGen TOPMed gnomAD
CA813269053 rs1205114586	206	T>R	No	ClinGen TOPMed
CA113752118 rs961029166	207	P>C	No	ClinGen TOPMed gnomAD
CA113752125 rs974253536	209	K>S	No	ClinGen TOPMed
rs919699923 CA113752138	210	S>V	No	ClinGen TOPMed
rs1281742563 CA557629688	212	A>N	No	ClinGen TOPMed gnomAD
CA1525273220 rs1304375697	213	Y>A	No	ClinGen TOPMed
CA813269056 rs1304375697	213	Y>E	No	ClinGen TOPMed
CA813269063 rs1324506529	214	S>R	No	ClinGen TOPMed
CA1525273233 rs1579441464	217	I>S	No	ClinGen Ensembl
CA557629691 rs1254092658	218	Q>W	No	ClinGen gnomAD
rs1386967371 CA813269082	219	G>T	No	ClinGen TOPMed
rs1192360373 CA557629693	221	H>V	No	ClinGen TOPMed gnomAD
rs1366022540 CA557629694	223	E>W	No	ClinGen gnomAD
CA557629695 rs1470569126	226	D>N	No	ClinGen TOPMed gnomAD
rs111451280 CA113752170	232	S>T	No	ClinGen Ensembl
rs1474210880 CA813269125	234	C>G	No	ClinGen TOPMed
rs1165923000 CA557629702	235	P>L	No	ClinGen TOPMed gnomAD
CA813269130 rs1192919802	237	E>V	No	ClinGen TOPMed
CA113752183 rs949827087	238	A>H	No	ClinGen Ensembl
CA557629703 rs1393538224	238	A>K	No	ClinGen TOPMed gnomAD
rs748261070 CA3193234	249	E>D	No	ClinGen ExAC gnomAD
rs748261070 CA3193235	249	E>Y	No	ClinGen ExAC gnomAD
CA813283554 rs1319339110	250	T>L	No	ClinGen TOPMed
rs1166829680 CA359140544	258	T>V	No	ClinGen gnomAD
CA113709966 rs1010085675	259	A>D	No	ClinGen TOPMed
rs749130040 CA359140588	262	Q>*	No	ClinGen ExAC gnomAD
rs749130040 CA3193237	262	Q>G	No	ClinGen ExAC gnomAD
rs1156834105 CA359140593	262	Q>I	No	ClinGen gnomAD
CA3193238 rs201401259	263	I>Q	No	ClinGen ExAC gnomAD
CA3193239 rs372514240	268	S>M	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1032597259 CA113709981	269	T>G	No	ClinGen TOPMed
CA3193241 rs766876723	269	T>K	No	ClinGen ExAC TOPMed gnomAD
CA359140704 rs1217640095	270	G>S	No	ClinGen TOPMed
rs760201324 CA3193243	273	L>R	No	ClinGen ExAC TOPMed gnomAD
rs1204152178 CA359140764	275	T>I	No	ClinGen TOPMed
rs1204152178 CA359140767	275	T>V	No	ClinGen TOPMed
rs571317210 CA3193245	278	I>A	No	ClinGen 1000Genomes ExAC gnomAD
CA3193246 rs758893026	278	I>M	No	ClinGen ExAC gnomAD
rs373735447 CA3193272	282	V>R	No	ClinGen ESP ExAC gnomAD
rs1327344487 CA359140951	283	F>V	No	ClinGen gnomAD
CA359140993 rs1315411542	288	R>R	No	ClinGen gnomAD
rs377710076 CA359141001	290	P>R	No	ClinGen ESP ExAC TOPMed gnomAD
rs377710076 CA3193273	290	P>S	No	ClinGen ESP ExAC TOPMed gnomAD
CA3193274 rs777832209	295	E>A	No	ClinGen ExAC gnomAD
rs1579480098 CA359141096	302	N>G	No	ClinGen Ensembl
CA113710763 rs751194564	305	E>T	No	ClinGen TOPMed gnomAD
rs1399711595 CA359141118	306	P>R	No	ClinGen gnomAD
CA3193299 rs143476341	307	C>A	No	ClinGen ESP ExAC TOPMed gnomAD
rs1456388727 CA359141129	307	C>Q	No	ClinGen TOPMed
CA3193300 rs768737746	308	S>C	No	ClinGen ExAC gnomAD
rs780810522 CA3193301	308	S>H	No	ClinGen ExAC TOPMed gnomAD
rs1406606644 CA359141165	313	D>M	No	ClinGen TOPMed
rs1377632697 CA359141169	313	D>R	No	ClinGen TOPMed gnomAD
CA359141206 rs1320302614	319	I>Q	No	ClinGen TOPMed gnomAD
CA359141203 rs1380626286	319	I>W	No	ClinGen gnomAD
rs572310565 CA3193303	322	L>D	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3193304 rs772983697	322	L>S	No	ClinGen ExAC gnomAD
rs62349049 CA113710791	323	T>M	No	ClinGen TOPMed gnomAD
rs772421168 CA3193306	325	Q>D	No	ClinGen ExAC gnomAD
CA359141241 rs1222894931	325	Q>Q	No	ClinGen TOPMed
CA3193308 rs761127883	327	T>Y	No	ClinGen ExAC gnomAD
rs764621770 CA3193309	329	V>L	No	ClinGen ExAC gnomAD
rs753888655 CA3193310	336	N>M	No	ClinGen ExAC gnomAD
rs1400605321 CA359141809	348	K>G	No	ClinGen TOPMed
CA359141815 rs1453903139	349	N>L	No	ClinGen gnomAD
rs765306287 CA3193330	351	M>I	No	ClinGen ExAC TOPMed gnomAD
rs960882391 CA113711692	353	K>V	No	ClinGen TOPMed
CA113711698 rs866157657	355	S>Y	No	ClinGen Ensembl
rs556558634 CA113711701	357	L>V	No	ClinGen Ensembl
CA113711703 rs994119820	358	P>Q	No	ClinGen TOPMed
CA359141881 rs1307256441	358	P>V	No	ClinGen gnomAD
rs766747987 CA3193333	359	Y>M	No	ClinGen ExAC TOPMed gnomAD
CA3193336 rs201308363	361	I>I	No	ClinGen ExAC TOPMed gnomAD
rs1579484871 CA359141901	362	L>W	No	ClinGen Ensembl
CA113711717 rs952798730	363	V>T	No	ClinGen TOPMed gnomAD
CA3193338 rs756026173	364	L>V	No	ClinGen ExAC gnomAD
rs762798038 CA113711723	366	Q>L	No	ClinGen TOPMed gnomAD
rs756876923 CA3193341	368	L>R	No	ClinGen ExAC TOPMed gnomAD
rs1251895909 CA359141949	369	L>S	No	ClinGen gnomAD
CA3193343 rs747372879	371	R>I	No	ClinGen ExAC gnomAD
rs1191835218 CA359141964	371	R>T	No	ClinGen gnomAD
CA3193342 rs778591243	371	R>V	No	ClinGen ExAC TOPMed gnomAD
rs138749862 CA3193362	373	L>E	No	ClinGen ESP ExAC TOPMed gnomAD
rs1309891970 CA359142422	380	G>M	No	ClinGen gnomAD
rs771076444 CA3193367	391	I>K	No	ClinGen ExAC gnomAD
CA359142511 rs1215176885	392	S>E	No	ClinGen TOPMed gnomAD
rs1470863189 CA359142505	392	S>N	No	ClinGen TOPMed
CA3193368 rs774593642	398	P>A	No	ClinGen ExAC gnomAD
rs1466073683 CA359143419	419	L>I	No	ClinGen TOPMed
rs138124674 CA359143445	423	N>G	No	ClinGen ESP ExAC gnomAD
CA3193390 rs772320867	423	N>Q	No	ClinGen ExAC TOPMed gnomAD
rs138124674 CA3193389	423	N>W	No	ClinGen ESP ExAC gnomAD
rs775638125 CA3193391	426	Y>E	No	ClinGen ExAC gnomAD
rs776509916 CA3193394	440	I>C	No	ClinGen ExAC gnomAD
CA3193395 rs761702125	443	E>K	No	ClinGen ExAC gnomAD
CA359143590 rs1579491092	444	E>L	No	ClinGen Ensembl
rs765200918 CA3193396	448	A>E	No	ClinGen ExAC gnomAD
rs766051766 CA3193399	450	T>S	No	ClinGen ExAC TOPMed gnomAD
rs374469337 CA3193400	458	L>T	No	ClinGen ESP ExAC TOPMed gnomAD
rs754682411 CA3193401	459	C>C	No	ClinGen ExAC gnomAD
rs1006676425 CA113713743	460	I>V	No	ClinGen gnomAD
rs754293765 CA3193403	461	E>T	No	ClinGen ExAC gnomAD
rs1234557173 CA359143744	466	P>T	No	ClinGen gnomAD
rs1460502414 CA359143842	480	V>V	No	ClinGen TOPMed
CA113713786 rs866517600	481	K>K	No	ClinGen Ensembl
rs771841219 CA3193437	487	A>E	No	ClinGen ExAC gnomAD
CA359143918 rs1158455106	490	V>I	No	ClinGen TOPMed gnomAD
CA359143931 rs1416358263	492	S>W	No	ClinGen gnomAD
rs1476437355 CA359143947	494	A>C	No	ClinGen gnomAD
rs766962066 CA3193443	497	P>T	No	ClinGen ExAC gnomAD
CA3193445 rs755153622	498	L>I	No	ClinGen ExAC gnomAD
CA3193444 rs557259475	498	L>V	No	ClinGen ExAC TOPMed gnomAD
CA359143975 rs1413951412	499	A>E	No	ClinGen gnomAD
rs576937304 CA113715684	499	A>R	No	ClinGen 1000Genomes
CA359143998 rs1291138043	502	Y>E	No	ClinGen gnomAD
CA113715685 rs1003774548	505	R>H	No	ClinGen TOPMed
rs111722861 CA113715686	507	A>V	No	ClinGen Ensembl
rs1391845225 CA359144074	513	R>D	No	ClinGen TOPMed gnomAD
CA3193448 rs756358277	515	I>L	No	ClinGen ExAC gnomAD
CA359144103 rs1347883091	517	V>L	No	ClinGen gnomAD
rs749156218 CA3193450	518	T>P	No	ClinGen ExAC gnomAD
CA359144164 rs1363683837	527	W>T	No	ClinGen gnomAD
CA3193484 rs764081039	536	A>R	No	ClinGen ExAC gnomAD
CA3193485 rs754031221	539	S>E	No	ClinGen ExAC gnomAD
CA359144272 rs140169056	540	P>D	No	ClinGen ESP ExAC TOPMed gnomAD
rs780038393 CA113716486	542	M>V	No	ClinGen Ensembl
rs1191772366 CA359144304	545	R>Q	No	ClinGen TOPMed gnomAD
CA359144311 rs1269756450	546	I>S	No	ClinGen gnomAD
rs1422064584 CA359144568	549	K>T	No	ClinGen TOPMed
rs765044790 CA3193487	553	A>S	No	ClinGen ExAC gnomAD
CA3193488 rs750228533	554	T>G	No	ClinGen ExAC gnomAD
rs1371118359 CA359144608	554	T>R	No	ClinGen gnomAD
rs1171266770 CA359144631	557	G>Q	No	ClinGen TOPMed gnomAD
rs371737445 CA3193491	558	E>L	No	ClinGen ESP ExAC TOPMed gnomAD
rs371737445 CA3193490	558	E>R	No	ClinGen ESP ExAC TOPMed gnomAD
CA359144641 rs1294704807	559	Q>L	No	ClinGen gnomAD
rs1295372215 CA359144660	562	N>I	No	ClinGen gnomAD
rs1381289668 CA359144655	562	N>V	No	ClinGen gnomAD
rs960797983 CA113716568	563	R>N	No	ClinGen TOPMed gnomAD
rs373790135 CA113717122	564	E>G	No	ClinGen ESP gnomAD
CA3193522 rs776754058	564	E>N	No	ClinGen ExAC gnomAD
rs1299257045 CA359144701	566	E>M	No	ClinGen gnomAD
CA3193523 rs761860610	567	S>Q	No	ClinGen ExAC TOPMed gnomAD
CA3193524 rs770055869	568	P>N	No	ClinGen ExAC gnomAD
CA359144729 rs1380469962	570	G>D	No	ClinGen gnomAD
CA3193525 rs746472114	571	Q>Q	No	ClinGen ExAC TOPMed gnomAD
CA3193526 rs763282364	572	R>T	No	ClinGen ExAC TOPMed gnomAD
rs1209280960 CA359144746	573	L>V	No	ClinGen TOPMed
CA3193527 rs766229617	574	T>I	No	ClinGen ExAC gnomAD
CA359144760 rs1561046023	576	S>H	No	ClinGen Ensembl
VAR_021175 CA3193529 rs28381415	576	S>S	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA359144771 rs1237999795	577	L>E	No	ClinGen gnomAD
rs878881928 CA113717196	577	L>W	No	ClinGen Ensembl
CA3193530 rs767411982	578	S>G	No	ClinGen ExAC gnomAD
CA3193531 rs752246759	579	S>R	No	ClinGen ExAC gnomAD
CA3193533 rs375858272	580	P>M	No	ClinGen ESP ExAC TOPMed gnomAD
CA3193532 rs755512884	580	P>P	No	ClinGen ExAC TOPMed gnomAD
rs1448791358 CA359144795	581	Q>R	No	ClinGen TOPMed
rs1413149179 CA359144804	582	L>K	No	ClinGen gnomAD
rs1178595221 CA359144808	583	L>Q	No	ClinGen gnomAD
rs780362632 CA3193536	584	S>D	No	ClinGen ExAC gnomAD
CA359144814 rs1442094715	584	S>G	No	ClinGen gnomAD
CA3193535 rs368847076	584	S>K	No	ClinGen ESP ExAC TOPMed gnomAD
CA113717257 rs993170367	586	G>K	No	ClinGen TOPMed gnomAD
rs993170367 CA359144823	586	G>Q	No	ClinGen TOPMed gnomAD
CA3193538 rs201358736	588	S>L	No	ClinGen ESP ExAC TOPMed gnomAD
rs141863278 CA3193539	589	A>C	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141863278 CA359144845	589	A>F	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769704671 CA3193541	590	S>R	No	ClinGen ExAC gnomAD
CA359144856 rs1196652683	591	S>P	No	ClinGen TOPMed gnomAD
rs1196652683 CA359144857	591	S>R	No	ClinGen TOPMed gnomAD
rs1259479172 CA359144863	592	V>C	No	ClinGen TOPMed gnomAD
CA359144862 rs1259479172	592	V>G	No	ClinGen TOPMed gnomAD
rs763229052 CA3193543	592	V>H	No	ClinGen ExAC gnomAD
CA359144864 rs763229052	592	V>L	No	ClinGen ExAC gnomAD
rs1192412363 CA359144873	594	S>P	No	ClinGen gnomAD
CA3193544 rs771321599	596	S>L	No	ClinGen ExAC gnomAD
rs767348305 CA3193547	599	D>N	No	ClinGen ExAC gnomAD
CA3193548 rs752518257	599	D>R	No	ClinGen ExAC gnomAD
rs202101080 CA3193550	600	V>S	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202101080 CA3193549	600	V>T	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3193551 rs200435958	601	D>E	No	ClinGen ExAC TOPMed gnomAD
rs756883141 CA3193552	606	P>R	No	ClinGen ExAC gnomAD
CA359144958 rs1348424433	608	T>L	No	ClinGen TOPMed gnomAD
CA113717360 rs766647427	611	S>P	No	ClinGen gnomAD
rs1360977527 CA359144977	612	V>L	No	ClinGen gnomAD
CA359145004 rs1242001776	616	S>F	No	ClinGen TOPMed
rs1216530145 CA359145002	616	S>P	No	ClinGen gnomAD
rs1226911904 CA359145015	618	Q>N	No	ClinGen gnomAD
rs373115695 CA113717362	619	A>E	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781630682 CA3193556	620	P>G	No	ClinGen ExAC gnomAD
rs199899607 CA3193555	620	P>I	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1488932374 CA359145056	622	P>L	No	ClinGen gnomAD
CA3193578 rs756669366	625	A>L	No	ClinGen ExAC TOPMed gnomAD
CA359145074 rs756669366	625	A>Q	No	ClinGen ExAC TOPMed gnomAD
CA3193577 rs753147914	625	A>T	No	ClinGen ExAC gnomAD
rs1025148959 CA113717848	626	G>L	No	ClinGen TOPMed gnomAD
CA359145083 rs1160283868	627	L>Y	No	ClinGen gnomAD
CA3193582 rs757353325	628	P>A	No	ClinGen ExAC TOPMed gnomAD
CA3193581 rs757353325	628	P>P	No	ClinGen ExAC TOPMed gnomAD
CA359145093 rs1413895144	629	T>A	No	ClinGen gnomAD
rs746033118 CA3193583	629	T>M	No	ClinGen ExAC TOPMed gnomAD
CA359145104 rs1561046759	631	L>G	No	ClinGen Ensembl
rs1394408584 CA359145110	631	L>R	No	ClinGen TOPMed gnomAD
rs775122783 CA3193585	634	P>R	No	ClinGen ExAC gnomAD
CA113717859 rs1002553060	636	G>G	No	ClinGen Ensembl
rs768578950 CA3193587	638	P>R	No	ClinGen ExAC TOPMed gnomAD
rs1199060431 CA359145159	639	Q>T	No	ClinGen TOPMed
CA3193588 rs149890591	639	Q>V	No	ClinGen ESP ExAC TOPMed gnomAD
rs1354892393 CA359145172	641	T>S	No	ClinGen gnomAD
rs376992245 CA3193590	643	S>H	No	ClinGen ESP ExAC gnomAD
CA359145192 rs1316365242	644	R>I	No	ClinGen TOPMed
rs1011538466 CA113717882	644	R>V	No	ClinGen gnomAD
CA3193593 VAR_021176 rs28381418	646	L>S	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1579500368 CA359145219	649	T>P	No	ClinGen Ensembl
CA3193595 rs370241452	649	T>S	No	ClinGen ESP ExAC TOPMed gnomAD
rs762856962 CA3193597	650	T>T	No	ClinGen ExAC gnomAD
rs74610290 CA113717924	650	T>V	No	ClinGen Ensembl
rs778824628 CA3193599	652	N>S	No	ClinGen ExAC gnomAD
rs766505435 CA113717941	653	Q>V	No	ClinGen gnomAD
CA3193601 rs146716658	655	R>G	No	ClinGen ESP ExAC gnomAD
CA359145256 rs1561046935	655	R>N	No	ClinGen Ensembl
rs780392722 CA3193602	657	T>R	No	ClinGen ExAC TOPMed gnomAD
rs768386108 CA3193604	658	I>H	No	ClinGen ExAC gnomAD
rs531095997 CA113717982	658	I>S	No	ClinGen Ensembl
CA3193605 rs780991923	660	P>L	No	ClinGen ExAC gnomAD
rs780991923 CA359145290	660	P>R	No	ClinGen ExAC gnomAD
rs1347804892 CA359145293	661	P>A	No	ClinGen gnomAD
rs748037851 CA3193606	661	P>I	No	ClinGen ExAC gnomAD
rs372180163 CA3193607	662	T>S	No	ClinGen ESP ExAC gnomAD
CA3193609 rs762585021	663	L>F	No	ClinGen ExAC gnomAD
rs772576661 CA3193608	663	L>P	No	ClinGen ExAC gnomAD
CA359145313 rs1432808497	665	V>A	No	ClinGen gnomAD
rs1379121971 CA359145331	668	V>V	No	ClinGen gnomAD
CA3193612 rs143583524	671	R>S	No	ClinGen ESP ExAC TOPMed gnomAD
rs764509563 CA3193613	672	Q>H	No	ClinGen ExAC TOPMed gnomAD
CA3193614 rs754293964	672	Q>K	No	ClinGen ExAC gnomAD
rs551425981 CA113718017	672	Q>S	No	ClinGen gnomAD
CA3193615 rs762386520	673	A>R	No	ClinGen ExAC gnomAD
rs543673479 CA3193639	674	G>N	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3193640 rs767788596	675	V>W	No	ClinGen ExAC gnomAD
rs1321219372 CA359145554	677	G>P	No	ClinGen gnomAD
CA359145576 rs1289012907	678	T>M	No	ClinGen Ensembl
CA359145575 rs1488895147	678	T>R	No	ClinGen TOPMed gnomAD
rs755741942 CA3193642	678	T>V	No	ClinGen ExAC TOPMed gnomAD
CA3193643 rs755123608	679	A>H	No	ClinGen ExAC gnomAD
CA113719361 rs755123608	679	A>L	No	ClinGen ExAC gnomAD
CA3193645 rs374089909	681	L>R	No	ClinGen ESP ExAC TOPMed gnomAD
CA3193647 rs199783023	682	K>I	No	ClinGen 1000Genomes ExAC gnomAD
rs28381429 CA359145597	683	A>I	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA113719432 rs997852912	684	V>V	No	ClinGen Ensembl
CA359145618 rs1166219449	686	H>G	No	ClinGen gnomAD
CA359145617 rs1166219449	686	H>V	No	ClinGen gnomAD
CA359145632 rs1260063943	689	S>A	No	ClinGen TOPMed
CA359145651 rs773480450	691	A>S	No	ClinGen ExAC TOPMed gnomAD
CA359145669 rs1402184302	694	S>D	No	ClinGen gnomAD
rs1358998923 CA359145667	694	S>S	No	ClinGen gnomAD
rs1289998665 CA359145672	695	A>I	No	ClinGen TOPMed gnomAD
CA359145673 rs1289998665	695	A>L	No	ClinGen TOPMed gnomAD
CA359145682 rs1201804684	696	S>G	No	ClinGen TOPMed
CA359145693 rs1263612173	698	N>A	No	ClinGen TOPMed
CA359145692 rs1263612173	698	N>P	No	ClinGen TOPMed
rs763490183 CA3193653	699	P>V	No	ClinGen ExAC TOPMed gnomAD
rs868424115 CA113719457	700	L>F	No	ClinGen Ensembl
rs774404623 CA3193655	700	L>P	No	ClinGen ExAC TOPMed gnomAD
CA113719462 rs1029384328	703	P>T	No	ClinGen TOPMed gnomAD
rs545618711 CA3193657	704	H>I	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1355630247 CA359145747	705	L>R	No	ClinGen gnomAD
rs866316050 CA113719480	705	L>Y	No	ClinGen Ensembl
rs1406161702 CA359145771	707	H>V	No	ClinGen TOPMed
rs919017289 CA113719485	708	K>F	No	ClinGen TOPMed
CA113719487 rs1801745	709	Q>P	No	ClinGen gnomAD
CA3193658 rs150204125	710	H>L	No	ClinGen ESP ExAC TOPMed gnomAD
rs755713523 CA113719489	710	H>S	No	ClinGen Ensembl
rs371319991 CA3193660	713	M>A	No	ClinGen ESP ExAC TOPMed gnomAD
CA359145878 rs1450507856	714	K>L	No	ClinGen TOPMed
CA359145881 rs1176417553	715	L>T	No	ClinGen gnomAD
rs757204868 CA3193662	715	L>V	No	ClinGen ExAC TOPMed gnomAD
CA359145923 rs1178941524	717	M>R	No	ClinGen gnomAD
rs757925888 CA3193665	717	M>S	No	ClinGen ExAC gnomAD
rs1464977493 CA359145938	718	K>S	No	ClinGen gnomAD
CA3193666 rs143141039	719	G>L	No	ClinGen ESP ExAC TOPMed gnomAD
CA113719517 rs1053023108	720	S>F	No	ClinGen TOPMed
CA113719533 rs773607777	721	H>L	No	ClinGen ExAC TOPMed gnomAD
rs773607777 CA3193669	721	H>W	No	ClinGen ExAC TOPMed gnomAD
CA3193671 rs200806644	722	G>G	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760056653 CA3193673	723	H>A	No	ClinGen ExAC TOPMed gnomAD
rs1394909243 CA359146139	726	G>C	No	ClinGen TOPMed
CA113719558 rs889942174	726	G>H	No	ClinGen TOPMed gnomAD
rs760925031 CA3193676	727	G>R	No	ClinGen ExAC TOPMed gnomAD
rs1315309807 CA359146618	730	S>Y	No	ClinGen gnomAD
rs762962736 CA3193703	731	S>S	No	ClinGen ExAC TOPMed gnomAD
CA113721183 rs377709180	732	V>D	No	ClinGen ESP TOPMed gnomAD
CA3193705 rs751079673	732	V>S	No	ClinGen ExAC TOPMed gnomAD
rs756780526 CA113721184	733	G>V	No	ClinGen Ensembl
rs184218968 CA3193706	736	G>C	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3193707 rs200286550	737	V>I	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1039859782 CA113721192	739	P>A	No	ClinGen TOPMed gnomAD
rs1294450409 CA359146679	739	P>S	No	ClinGen TOPMed
CA3193708 rs750379826	740	P>F	No	ClinGen ExAC gnomAD
rs1579507188 CA359146692	741	V>P	No	ClinGen Ensembl
rs758160708 CA359146699	741	V>Q	No	ClinGen ExAC gnomAD
rs779223223 CA3193710	742	G>S	No	ClinGen ExAC TOPMed gnomAD
rs1288175126 CA359146726	743	N>L	No	ClinGen TOPMed
rs746285850 CA3193711	744	R>I	No	ClinGen ExAC TOPMed gnomAD
rs746285850 CA359146743	744	R>S	No	ClinGen ExAC TOPMed gnomAD
rs772562135 CA3193712	745	G>K	No	ClinGen ExAC gnomAD
CA3193713 rs780357525	746	H>S	No	ClinGen ExAC TOPMed gnomAD
CA3193715 rs546946241	747	H>S	No	ClinGen 1000Genomes ExAC gnomAD
rs762098149 CA3193717	748	Q>S	No	ClinGen ExAC TOPMed gnomAD
rs201107006 CA3193719	749	Y>C	No	ClinGen ExAC TOPMed gnomAD
rs770191383 CA3193718	749	Y>H	No	ClinGen ExAC
rs1561050214 CA359146851	752	T>G	No	ClinGen Ensembl
CA113721240 rs375654693	752	T>M	No	ClinGen Ensembl
CA3193722 rs774101666	755	R>R	No	ClinGen ExAC gnomAD
rs147489333 CA3193723	758	K>Q	No	ClinGen ESP ExAC TOPMed gnomAD
rs1246232823 CA359146929	758	K>W	No	ClinGen gnomAD
CA113721265 rs895153826	759	H>L	No	ClinGen TOPMed gnomAD
rs1214821840 CA359146952	760	T>A	No	ClinGen TOPMed gnomAD
CA359146950 rs1214821840	760	T>T	No	ClinGen TOPMed gnomAD
CA3193725 rs752249306	762	T>D	No	ClinGen ExAC TOPMed gnomAD
rs1200920813 CA359147039	766	L>D	No	ClinGen gnomAD
rs1216073866 CA359147081	768	V>R	No	ClinGen TOPMed
rs1379871962 CA359147098	769	S>C	No	ClinGen gnomAD
rs1561050309 CA359147109	770	L>D	No	ClinGen Ensembl
rs763801628 CA3193727	771	S>C	No	ClinGen ExAC TOPMed gnomAD
CA359147131 rs1385669103	771	S>H	No	ClinGen gnomAD
rs1331686041 CA359147149	772	R>S	No	ClinGen gnomAD
rs1337700529 CA359147174	773	R>D	No	ClinGen TOPMed
rs371416636 CA3193729	773	R>S	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q5XG87

2 regional properties for Q5XG87

Type	Name	Position	InterPro Accession
domain	PAP/25A-associated	428 - 486	IPR002058
domain	Polymerase, nucleotidyl transferase domain	265 - 372	IPR002934

Functions

		Description
EC Number	2.7.7.19	Nucleotidyltransferases
Subcellular Localization	Cytoplasm Nucleus, nucleoplasm	Excluded from nucleolus, weak staining detected in the cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
TRAMP complex	A multiprotein complex having distributive polyadenylation activity of a variety of RNA substrates including hypomodified and incorrectly folded tRNAs, pre-snRNAs, pre-snoRNAs, incorrectly spliced or processed pre-mRNAs, cryptic unstable transcripts (CUTs), pre-rRNAs and rRNA fragments released as part of rRNA processing. In S. cerevisiae, the complex consists of either Pap2 (also known as Trf4) or Trf5, Air1 or Air2, and Mtr4, and is involved in RNA 3'-end processing and in RNA surveillance and quality control.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
guanylyltransferase activity	Catalysis of the transfer of a guanylyl group to an acceptor.
metal ion binding	Binding to a metal ion.
polynucleotide adenylyltransferase activity	Catalysis of the template-independent extension of the 3'- end of an RNA or DNA strand by addition of one adenosine molecule at a time. Cannot initiate a chain 'de novo'. The primer, depending on the source of the enzyme, may be an RNA or DNA fragment, or oligo(A) bearing a 3'-OH terminal group.
SMC family protein binding	Binding to a protein from the structural maintenance of chromosomes (SMC) family, a group of chromosomal ATPases with a role in mitotic chromosome organization.

10 GO annotations of biological process

Name	Definition
double-strand break repair	The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix.
mitotic chromosome condensation	The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
negative regulation of nuclear-transcribed mRNA poly(A) tail shortening	Any process that decreases the frequency, rate or extent of poly(A) tail shortening of a nuclear-transcribed mRNA. Poly(A) tail shortening is the decrease in length of the poly(A) tail of an mRNA from full length to an oligo(A) length.
positive regulation of 3'-UTR-mediated mRNA stabilization	Any process that activates or increases the frequency, rate or extent of 3'-UTR-mediated mRNA stabilization.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
RNA 3' uridylation	The enzymatic addition of a sequence of uridylyl residues at the 3' end of an RNA molecule.
RNA 3'-end processing	Any process involved in forming the mature 3' end of an RNA molecule.
RNA polyadenylation	The enzymatic addition of a sequence of adenylyl residues at the 3' end of an RNA molecule.
sister chromatid cohesion	The cell cycle process in which the sister chromatids of a replicated chromosome become tethered to each other.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8NDF8	TENT4B	Terminal nucleotidyltransferase 4B	Homo sapiens (Human)	PR
Q68ED3	Tent4b	Terminal nucleotidyltransferase 4B	Mus musculus (Mouse)	PR
Q6PB75	Tent4a	Terminal nucleotidyltransferase 4A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MQIWETSQGV	GRGGSGFASY	FCLNSPALDT	AAAAGAAGRG	SGGLGPALPA	ASPPPPGPTA
70	80	90	100	110	120
PAALPPALLT	ALGPAAEGAR	RLHKSPSLSS	SSSSSSSNAE	SGTESPGCSS	SSSSSASLGR
130	140	150	160	170	180
PGGGRGGAFF	NFADGAPSAP	GTANGHPGPR	GPAPAGSPSQ	HQFHPGRRKR	ENKASTYGLN
190	200	210	220	230	240
YLLSGSRAAA	LSGGGGPGAQ	APRPGTPWKS	RAYSPGIQGL	HEEIIDFYNF	MSPCPEEAAM
250	260	270	280	290	300
RREVVKRIET	VVKDLWPTAD	VQIFGSFSTG	LYLPTSDIDL	VVFGKWERPP	LQLLEQALRK
310	320	330	340	350	360
HNVAEPCSIK	VLDKATVPII	KLTDQETEVK	VDISFNMETG	VRAAEFIKNY	MKKYSLLPYL
370	380	390	400	410	420
ILVLKQFLLQ	RDLNEVFTGG	ISSYSLILMA	ISFLQLHPRI	DARRADENLG	MLLVEFFELY
430	440	450	460	470	480
GRNFNYLKTG	IRIKEGGAYI	AKEEIMKAMT	SGYRPSMLCI	EDPLLPGNDV	GRSSYGAMQV
490	500	510	520	530	540
KQVFDYAYIV	LSHAVSPLAR	SYPNRDAEST	LGRIIKVTQE	VIDYRRWIKE	KWGSKAHPSP
550	560	570	580	590	600
GMDSRIKIKE	RIATCNGEQT	QNREPESPYG	QRLTLSLSSP	QLLSSGSSAS	SVSSLSGSDV
610	620	630	640	650	660
DSDTPPCTTP	SVYQFSLQAP	APLMAGLPTA	LPMPSGKPQP	TTSRTLIMTT	NNQTRFTIPP
670	680	690	700	710	720
PTLGVAPVPC	RQAGVEGTAS	LKAVHHMSSP	AIPSASPNPL	SSPHLYHKQH	NGMKLSMKGS
730	740	750	760	770
HGHTQGGGYS	SVGSGGVRPP	VGNRGHHQYN	RTGWRRKKHT	HTRDSLPVSL	SR