AiPD: Autoinhibited Protein Database

Q9H3P2

Gene name	NELFA (WHSC2, P/OKcl.15)
Protein name	Negative elongation factor A
Names	NELF-A, Wolf-Hirschhorn syndrome candidate 2 protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7469
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

185-406 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

185-406 (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

6 structures for Q9H3P2

Entry ID	Method	Resolution	Chain	Position	Source
5L3X	X-ray	275 A	A	6-182	PDB
6GML	EM	320 A	U	1-528	PDB
7PKS	EM	360 A	U	1-528	PDB
7YCX	EM	418 A	e	1-528	PDB
8RBX	EM	410 A	u	1-528	PDB
AF-Q9H3P2-F1	Predicted				AlphaFoldDB

424 variants for Q9H3P2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA356000774 rs753199708	2	A>E		No	ClinGen gnomAD
CA356000796 rs1382984570	2	A>T		No	ClinGen TOPMed
CA91291729 rs753199708	2	A>V		No	ClinGen gnomAD
rs1366653780 CA356000751	3	S>C		No	ClinGen gnomAD
rs867963285 CA91291721	5	R>L		No	ClinGen Ensembl
rs1163303544 CA356000648	6	E>G		No	ClinGen gnomAD
rs764561942 CA2813707	7	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1183357881 CA356000606	7	S>N		No	ClinGen gnomAD
rs1250406779 CA356000571	8	D>N		No	ClinGen gnomAD
rs761227801 CA356000512	9	T>K		No	ClinGen ExAC TOPMed gnomAD
COSM1054459 CA356000516 rs761227801	9	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2813706 rs761227801	9	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1262352385 CA356000434	12	W>*		No	ClinGen gnomAD
rs1577635702 CA356000380	14	H>N		No	ClinGen Ensembl
rs1048436359 CA91291676	15	N>K		No	ClinGen TOPMed gnomAD
CA356000286 rs1335312979	16	K>Q		No	ClinGen gnomAD
CA91291654 rs1047247246	18	G>A		No	ClinGen Ensembl
rs1346365756 CA356000189	19	A>T		No	ClinGen gnomAD
rs371871500 CA356000170	20	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs371871500 CA2813700	20	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs780120171 CA356000046	25	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2813695 rs780120171	25	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1410636164 CA356000038	25	A>V		No	ClinGen TOPMed gnomAD
rs779059727 CA2813692	26	P>L		No	ClinGen ExAC gnomAD
CA2813693 rs750509383	26	P>S		No	ClinGen ExAC gnomAD
rs1263572310 CA355999939	31	S>F		No	ClinGen TOPMed gnomAD
rs1266369487 CA355999910	34	T>A		No	ClinGen gnomAD
rs150929755 CA2813686	36	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2813687 rs753200372	36	A>P		No	ClinGen ExAC gnomAD
CA2813685 rs150929755	36	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355999864 rs1577635581	38	I>L		No	ClinGen Ensembl
CA355999845 rs1319356420	39	D>G		No	ClinGen gnomAD
rs772766148 CA2813684	39	D>H		No	ClinGen ExAC gnomAD
CA355999810 rs1387021862	42	R>C		No	ClinGen gnomAD
rs1156352954 CA355999804	42	R>H		No	ClinGen gnomAD
rs912799332 CA91291535	43	L>H		No	ClinGen TOPMed gnomAD
COSM109289 rs138637054 CA91291531	45	F>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2813682 rs761496202	46	H>R		No	ClinGen ExAC gnomAD
CA355999744 rs1371499482	46	H>Y		No	ClinGen TOPMed
rs1193604356 CA355999699	49	S>*		No	ClinGen gnomAD
CA355999675 rs1205655110	51	A>P		No	ClinGen gnomAD
CA355999679 rs1205655110	51	A>S		No	ClinGen gnomAD
rs548003009 CA91291436	59	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs548003009 CA2813673	59	G>W		No	ClinGen 1000Genomes ExAC gnomAD
rs142583682 CA2813672	60	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA355999538 rs1453977177	60	T>M		No	ClinGen gnomAD
rs1412456344 CA355999492	64	P>L		No	ClinGen gnomAD
CA2813670 rs753108493	64	P>S		No	ClinGen ExAC TOPMed gnomAD
CA355999481 rs1169761336	65	R>H		No	ClinGen TOPMed
rs1560891914 CA355999468	67	T>P		No	ClinGen Ensembl
CA355999459 rs1185410419	68	V>M		No	ClinGen gnomAD
rs1237022857 CA355999440	69	D>G		No	ClinGen gnomAD
CA355999447 rs1445132095	69	D>N		No	ClinGen gnomAD
CA355999423 rs1352969866	70	E>D		No	ClinGen TOPMed
rs749941293 CA2813667	70	E>K		No	ClinGen ExAC gnomAD
rs765261720 CA2813596	73	G>D		No	ClinGen ExAC gnomAD
CA355994067 rs765261720	73	G>V		No	ClinGen ExAC gnomAD
CA355994064 rs1252726874	74	A>T		No	ClinGen gnomAD
rs1181925651 CA355994053	74	A>V		No	ClinGen gnomAD
CA2813594 rs368446695	76	M>T		No	ClinGen ESP ExAC gnomAD
CA2813592 rs760766481	79	I>M		No	ClinGen ExAC gnomAD
CA2813593 rs768959622	79	I>V		No	ClinGen ExAC gnomAD
rs1451519534 CA355993933	81	L>V		No	ClinGen gnomAD
CA2813590 rs772360883	82	A>G		No	ClinGen ExAC gnomAD
CA91280144 rs1018787585	82	A>T		No	ClinGen Ensembl
rs746382078 CA2813589	83	S>I		No	ClinGen ExAC TOPMed gnomAD
rs746382078 CA355993899	83	S>N		No	ClinGen ExAC TOPMed gnomAD
CA355993890 rs1187384433	83	S>R		No	ClinGen TOPMed
CA2813588 rs201015263	84	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2813585 rs780539029	85	D>E		No	ClinGen ExAC gnomAD
rs906816150 CA91280125	85	D>H		No	ClinGen TOPMed
CA2813584 rs754692749	86	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1407652549 CA355993861	86	S>T		No	ClinGen TOPMed
rs1362137333 CA355993827	88	P>S		No	ClinGen TOPMed
CA2813581 rs370803885	91	L>F		No	ClinGen ESP ExAC gnomAD
CA91280078 rs543651942	94	A>T		No	ClinGen 1000Genomes gnomAD
rs1471716503 CA355993722	95	D>E		No	ClinGen TOPMed gnomAD
CA355993726 rs1158794416	95	D>G		No	ClinGen gnomAD
rs765312859 CA2813579	95	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2813578 rs142910908	96	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376419751 CA91280053	101	P>L		No	ClinGen ESP TOPMed gnomAD
rs144380028 CA2813574	102	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA91280040 rs1045216576	103	T>S		No	ClinGen Ensembl
rs940596127 CA91280029	105	S>L		No	ClinGen TOPMed gnomAD
CA355993583 rs749721192	108	L>M		No	ClinGen ExAC gnomAD
CA2813569 rs749721192	108	L>V		No	ClinGen ExAC gnomAD
CA355993518 rs1577619248	112	E>G		No	ClinGen Ensembl
CA2813567 rs767993415	115	P>A		No	ClinGen ExAC TOPMed gnomAD
CA91280016 rs767993415	115	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2813566 rs765571034	116	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1419856613 CA355993466	116	N>T		No	ClinGen TOPMed
rs372541771 CA2813565	117	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2813564 rs747585965	118	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA355993430 rs1248610834	119	D>G		No	ClinGen gnomAD
rs1319948762 CA355993433	119	D>Y		No	ClinGen gnomAD
CA91280000 rs780386833	120	I>V		No	ClinGen gnomAD
rs1361073838 CA355993373	123	E>D		No	ClinGen gnomAD
CA2813563 rs745697112	124	L>V		No	ClinGen ExAC gnomAD
rs778807678 CA2813562	125	R>G		No	ClinGen ExAC gnomAD
rs201550409 CA91279995	125	R>T		No	ClinGen Ensembl
rs757239483 CA2813561	127	K>R		No	ClinGen ExAC gnomAD
rs200733578 CA91313493	128	V>A		No	ClinGen 1000Genomes
CA2813527 rs762339956	129	G>D		No	ClinGen ExAC TOPMed
rs762339956 CA356016411	129	G>V		No	ClinGen ExAC TOPMed
CA91313485 rs980589769	131	C>R		No	ClinGen TOPMed
rs1332195043 CA356016399	131	C>Y		No	ClinGen gnomAD
CA91313484 rs962563014	133	A>V		No	ClinGen TOPMed gnomAD
rs771648629 CA2813525	136	M>T		No	ClinGen ExAC gnomAD
CA91313474 rs998981795	136	M>V		No	ClinGen TOPMed gnomAD
rs373987600 CA2813523	142	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs770607887 CA2813522	143	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs147208231 CA2813520	148	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs147208231 CA2813519	148	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs143836619 CA2813518	150	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs751635541 CA2813515	153	A>T		No	ClinGen ExAC TOPMed gnomAD
CA356016256 rs1446644319	153	A>V		No	ClinGen TOPMed gnomAD
CA91313362 rs745817429	155	P>H		No	ClinGen Ensembl
CA2813513 rs758614990	156	L>R		No	ClinGen ExAC gnomAD
CA2813512 rs184076635	159	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2813510 rs762421100	160	V>L		No	ClinGen ExAC TOPMed
CA356016177 rs1422906592	166	K>Q		No	ClinGen TOPMed
rs371547502 CA2813509	167	R>Q		No	ClinGen ESP ExAC gnomAD
rs1018509861 CA91313308	171	S>N		No	ClinGen TOPMed
rs200510837 CA2813507	173	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773980531 CA2813506	175	R>W		No	ClinGen ExAC gnomAD
rs770531900 CA2813505	176	A>V		No	ClinGen ExAC gnomAD
CA356016092 rs1560866501	180	Q>*		No	ClinGen Ensembl
CA356016087 rs1336426838	180	Q>H		No	ClinGen TOPMed
rs1391898213 CA356016089	180	Q>L		No	ClinGen gnomAD
CA2813503 rs772905103	181	K>R		No	ClinGen ExAC gnomAD
CA356015651 rs1292346859	183	T>M		No	ClinGen gnomAD
CA91311941 rs1002923440	185	T>I		No	ClinGen TOPMed gnomAD
rs1416413374 CA356015633	186	A>G		No	ClinGen TOPMed
rs1441401931 CA356015637	186	A>T		No	ClinGen gnomAD
CA356015630 rs1334893084	187	Q>E		No	ClinGen TOPMed
CA356015585 rs1462080844	191	R>Q		No	ClinGen TOPMed gnomAD
rs369461068 CA91311938	191	R>W		No	ClinGen ESP TOPMed gnomAD
CA356015569 rs1473688291	193	A>T		No	ClinGen TOPMed gnomAD
CA2813469 rs567338799	194	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2813470 rs753191059	194	G>R		No	ClinGen ExAC gnomAD
rs1577615464 CA356015530	195	V>G		No	ClinGen Ensembl
rs1248912456 CA356015541	195	V>L		No	ClinGen gnomAD
CA356015529 rs1201873908	196	P>A		No	ClinGen TOPMed
CA356015484 rs201479105	199	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2813466 rs201479105	199	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA356015449 rs1222948431	202	R>Q		No	ClinGen gnomAD
rs763817905 CA2813463	202	R>W		No	ClinGen ExAC TOPMed gnomAD
CA356015414 rs1370418534	206	R>Q		No	ClinGen gnomAD
rs145121989 CA2813461	206	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459025218 CA356015383	208	M>I		No	ClinGen gnomAD
CA356015366 rs746006722 CA2813460	209	D>E		No	ClinGen ExAC gnomAD
CA91311859 rs1049799261	210	T>I		No	ClinGen TOPMed gnomAD
rs1049799261 CA356015358	210	T>N		No	ClinGen TOPMed gnomAD
CA356015345 rs1427658470	211	T>S		No	ClinGen TOPMed gnomAD
CA2813398 rs750550938	212	T>I		No	ClinGen ExAC gnomAD
CA356014890 rs1391775287	215	K>R		No	ClinGen gnomAD
rs374079729 CA91309948	218	P>L		No	ClinGen ESP TOPMed gnomAD
rs761072900 CA2813393	221	A>E		No	ClinGen ExAC TOPMed gnomAD
rs2234565 RCV000891382 CA2813394	221	A>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA91309939 rs761072900	221	A>V		No	ClinGen ExAC TOPMed gnomAD
CA356014846 rs1470008233	222	P>R		No	ClinGen TOPMed
CA356014835 rs1184901899	224	R>G		No	ClinGen gnomAD
CA356014821 rs1264187285	225	S>R		No	ClinGen TOPMed gnomAD
rs549364702 CA2813391	226	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA91309937 rs746328582	227	T>K		No	ClinGen ExAC TOPMed gnomAD
rs746328582 CA2813390	227	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1237156456 CA356014806	228	A>V		No	ClinGen TOPMed gnomAD
rs1303540476 CA356014801	229	P>R		No	ClinGen TOPMed gnomAD
CA356014805 rs1472635772	229	P>S		No	ClinGen TOPMed
CA2813387 rs747693345	230	S>G		No	ClinGen ExAC TOPMed gnomAD
rs754655693 CA2813385	231	V>I		No	ClinGen ExAC TOPMed gnomAD
CA356014774 rs1156525141	233	S>I		No	ClinGen gnomAD
rs1395558353 CA356014769	234	P>L		No	ClinGen TOPMed gnomAD
rs1395558353 CA356014767	234	P>R		No	ClinGen TOPMed gnomAD
rs746842666 CA2813384	234	P>S		No	ClinGen ExAC gnomAD
rs1374860851 CA356014757	236	G>E		No	ClinGen gnomAD
CA356014758 rs1380448486	236	G>W		No	ClinGen TOPMed
CA356014753 rs1194235878	237	N>D		No	ClinGen gnomAD
CA356014745 rs1260088656	238	R>W		No	ClinGen gnomAD
CA2813383 rs779957545	239	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1577613070 CA356014741	239	T>P		No	ClinGen Ensembl
CA2813382 rs758421252	240	P>S		No	ClinGen ExAC gnomAD
CA2813381 rs750317727	241	I>L		No	ClinGen ExAC TOPMed gnomAD
rs374310144 CA2813380	242	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374310144 CA2813379	242	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs901434143 CA91309881	242	P>T		No	ClinGen Ensembl
CA2813377 rs764259371	243	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1227715020 CA356014717	244	S>P		No	ClinGen gnomAD
CA2813376 rs760843788	246	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1375804890 CA356014698	247	L>V		No	ClinGen gnomAD
CA356014687 rs370942710	249	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2813375 rs370942710	249	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA356014688 rs1312269238	249	R>W		No	ClinGen gnomAD
CA356014667 rs1421756817	252	R>Q		No	ClinGen gnomAD
rs1053782912 CA91309829	255	K>N		No	ClinGen TOPMed
rs1374787616 CA356014618	258	D>E		No	ClinGen gnomAD
CA356014562 rs1402850171	267	A>T		No	ClinGen TOPMed gnomAD
rs916410813 CA91309630	269	R>*		No	ClinGen TOPMed
CA2813346 rs745686118	269	R>Q		No	ClinGen ExAC gnomAD
CA2813345 rs778725431	271	A>V		No	ClinGen ExAC gnomAD
CA2813343 rs749188582	273	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2813344 rs375025131	273	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA356014521 rs1287719361	274	R>K		No	ClinGen gnomAD
rs150291014 CA2813342	276	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318569330 CA356014501	277	T>A		No	ClinGen gnomAD
CA356014490 rs1351370231	279	D>N		No	ClinGen gnomAD
rs200464469 CA91309188	280	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs907241936 CA91309196	280	A>T		No	ClinGen Ensembl
CA2813313 rs200464469	280	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA91309170 rs371582471	281	E>V		No	ClinGen ESP
CA356014426 rs1577612249	282	V>G		No	ClinGen Ensembl
CA2813311 rs367918512	283	V>A		No	ClinGen ESP ExAC TOPMed
rs367918512 CA91309165	283	V>E		No	ClinGen ESP ExAC TOPMed
rs1169595395 CA356014402	284	E>V		No	ClinGen gnomAD
rs1463683994 CA356014386	285	K>M		No	ClinGen gnomAD
rs762859564 CA2813308	286	P>L		No	ClinGen ExAC TOPMed gnomAD
rs765938284 CA2813309	286	P>S		No	ClinGen ExAC TOPMed gnomAD
rs769758579 CA2813306	287	A>T		No	ClinGen ExAC gnomAD
CA2813305 rs748033335	287	A>V		No	ClinGen ExAC gnomAD
rs776707907 CA2813304	288	K>R		No	ClinGen ExAC gnomAD
rs531255374 CA356014281	290	E>*		No	ClinGen 1000Genomes gnomAD
CA91309120 rs531255374	290	E>Q		No	ClinGen 1000Genomes gnomAD
rs747044512 CA2813302	291	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1577612198 CA356014233	292	V>G		No	ClinGen Ensembl
CA2813300 rs758513713	292	V>M		No	ClinGen ExAC gnomAD
CA356014212 rs1330013381	294	E>K		No	ClinGen gnomAD
CA356014154 rs779371467	296	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2813297 rs779371467	296	A>T		No	ClinGen ExAC TOPMed gnomAD
CA91309088 rs916515023	298	P>L		No	ClinGen TOPMed
rs201155907 CA356014116	299	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2813294 rs201155907	299	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2813292 rs751012137	301	A>T		No	ClinGen ExAC gnomAD
rs1469863549 CA356014077	302	A>V		No	ClinGen gnomAD
rs1209464280 CA356014072	303	G>R		No	ClinGen TOPMed gnomAD
CA356014074 rs1209464280	303	G>S		No	ClinGen TOPMed gnomAD
rs764956945 CA2813288	305	V>A		No	ClinGen ExAC gnomAD
rs750243851 CA2813289	305	V>M		No	ClinGen ExAC gnomAD
rs776686612 CA2813286	307	T>A		No	ClinGen ExAC gnomAD
rs768452991 CA2813285	307	T>M		No	ClinGen ExAC TOPMed gnomAD
rs775388691 CA2813283	308	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1278746171 CA356013061	310	L>P		No	ClinGen gnomAD
rs1278746171 CA356013058	310	L>R		No	ClinGen gnomAD
rs202169616 CA2813257	311	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA356013041 rs1318758208	311	G>V		No	ClinGen gnomAD
CA91307886 rs868120810	318	A>V		No	ClinGen gnomAD
CA356012925 rs1416581732	319	L>M		No	ClinGen gnomAD
rs1346813209 CA356012879	322	T>A		No	ClinGen Ensembl
CA2813253 rs369737355	322	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs369737355 CA356012867	322	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1398716397 CA356012856	323	S>N		No	ClinGen TOPMed gnomAD
CA91307879 rs894111943	324	Y>H		No	ClinGen Ensembl
CA91307872 rs888300923	325	L>F		No	ClinGen TOPMed
rs1056086295 CA91307868	325	L>R		No	ClinGen Ensembl
rs756860391 CA356012815	326	P>A		No	ClinGen ExAC TOPMed gnomAD
CA356012813 rs1577610741	326	P>H		No	ClinGen Ensembl
rs756860391 CA2813251	326	P>T		No	ClinGen ExAC TOPMed gnomAD
CA91307835 rs936249774	327	S>C		No	ClinGen gnomAD
CA356012794 rs936249774	327	S>F		No	ClinGen gnomAD
CA356012798 rs936249774	327	S>Y		No	ClinGen gnomAD
CA2813249 rs763739051	328	T>M		No	ClinGen ExAC gnomAD
CA356012756 rs1186044930	329	P>T		No	ClinGen gnomAD
rs200573084 CA2813246 CA2813244	331	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2813245 rs200573084	331	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2813243 rs766739779	333	P>S		No	ClinGen ExAC
RCV000972105 CA2813241 rs140457309	334	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2813240 VAR_059459 rs2234569 RCV000894731	335	S>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA91307782 rs866956986	335	S>Y		No	ClinGen Ensembl
rs41286683 CA91307760	338	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356012641 rs1445709920	338	I>N		No	ClinGen TOPMed gnomAD
rs41286683 RCV000907948 CA2813238	338	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA91307750 rs978933148	339	P>S		No	ClinGen TOPMed
rs868024863 CA91307738	342	E>*		No	ClinGen gnomAD
rs1398316525 CA356012579	342	E>D		No	ClinGen gnomAD
CA356012593 rs868024863	342	E>Q		No	ClinGen gnomAD
rs1167333101 CA356012565	343	T>M		No	ClinGen gnomAD
CA356012551 rs1413511745	344	P>L		No	ClinGen gnomAD
CA356012556 rs1193142276	344	P>S		No	ClinGen TOPMed
CA2813233 rs748824886	345	P>Q		No	ClinGen ExAC gnomAD
CA2813234 rs756915812	345	P>T		No	ClinGen ExAC
rs1234148498 CA356012533	346	A>P		No	ClinGen gnomAD
rs1234148498 CA356012536	346	A>T		No	ClinGen gnomAD
CA356012309 rs1398796610	347	P>L		No	ClinGen TOPMed
rs1016794464 CA91307137	348	S>Y		No	ClinGen Ensembl
rs746140284 CA2813218	350	R>Q		No	ClinGen ExAC gnomAD
rs776937399 CA2813219	350	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2813217 rs560176443	352	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs371539013 CA2813216	354	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2813214 rs748816112	354	R>H		No	ClinGen ExAC TOPMed gnomAD
rs748816112 CA2813215	354	R>L		No	ClinGen ExAC TOPMed gnomAD
CA356012167 rs1272729338	355	P>A		No	ClinGen TOPMed
rs777338269 CA356012150	356	P>S		No	ClinGen ExAC gnomAD
rs777338269 CA2813213	356	P>T		No	ClinGen ExAC gnomAD
rs949336576 CA91307119	357	E>D		No	ClinGen Ensembl
rs1424089037 CA356012119	358	E>Q		No	ClinGen gnomAD
CA356012099 rs1577609679	360	S>R		No	ClinGen Ensembl
rs1476304618 CA356012079	361	A>T		No	ClinGen gnomAD
rs1057035677 CA356012069	362	P>A		No	ClinGen gnomAD
rs781086291 CA2813210	362	P>L		No	ClinGen ExAC TOPMed gnomAD
CA356012062 rs781086291	362	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1057035677 CA91307086	362	P>S		No	ClinGen gnomAD
CA2813207 rs560926973	365	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2813205 rs750497064	367	P>T		No	ClinGen ExAC gnomAD
rs2234572 CA2813204	368	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356011940 rs1196968020	372	Q>*		No	ClinGen TOPMed
CA2813202 rs754212367	373	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA91307043 rs947143296	373	R>W		No	ClinGen Ensembl
CA356011894 rs1480789278	374	A>S		No	ClinGen TOPMed
rs375949981 CA2813201	374	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2813198 rs772608553	376	M>L		No	ClinGen ExAC TOPMed gnomAD
rs988452166 CA91307004	376	M>T		No	ClinGen Ensembl
CA356011861 rs772608553	376	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1466802413 CA356011796	378	N>S		No	ClinGen gnomAD
rs954337590 CA91307002	379	S>G		No	ClinGen gnomAD
rs752983379 CA2813197	379	S>R		No	ClinGen ExAC TOPMed gnomAD
rs769354515 CA356011768	380	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2813195 rs769354515	380	G>S		No	ClinGen ExAC TOPMed gnomAD
rs747745912 CA2813194	381	L>P		No	ClinGen ExAC gnomAD
rs370859705 CA2813193	383	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206889420 CA356011714	383	P>L		No	ClinGen gnomAD
rs370859705 CA356011722	383	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2813192 rs377602331	384	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs779907766 CA2813190	386	P>A		No	ClinGen ExAC gnomAD
CA2813189 rs758313196	386	P>R		No	ClinGen ExAC gnomAD
RCV000910259 rs2234573 CA2813188	387	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA91306972 rs370850254	388	P>L		No	ClinGen gnomAD
rs757421203 CA2813186	388	P>T		No	ClinGen ExAC gnomAD
rs149343602 CA2813185	389	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761074777 CA2813183	390	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1259723662 CA356011607	391	P>L		No	ClinGen gnomAD
CA2813181 rs767942061	391	P>S		No	ClinGen ExAC TOPMed gnomAD
CA356011619 rs767942061	391	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2813178 rs772611494	393	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1271295191 CA356011586	393	S>P		No	ClinGen TOPMed
rs776488160 CA2813175	394	P>L		No	ClinGen ExAC gnomAD
rs1128562 CA91306887	394	P>S		No	ClinGen Ensembl
CA356011564 rs1193031828	395	L>P		No	ClinGen TOPMed
CA2813173 rs746843129	397	P>H		No	ClinGen ExAC gnomAD
CA356011525 rs1203173919	399	T>R		No	ClinGen gnomAD
CA356011515 rs1171674784	400	P>A		No	ClinGen TOPMed
CA356011504 rs1342037766	400	P>L		No	ClinGen gnomAD
rs139794494 CA2813169	401	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2813170 rs771913765	401	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2813166 rs757385364	402	A>V		No	ClinGen ExAC gnomAD
CA2813164 rs778009735	404	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1293852915 CA356011447	405	P>A		No	ClinGen gnomAD
CA91306825 rs985340023	405	P>L		No	ClinGen TOPMed
CA2813162 rs753027252	407	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2813161 rs200646290	407	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA356011410 rs200646290	407	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2813158 rs752179327	411	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2813156 rs761460931	412	V>A		No	ClinGen ExAC TOPMed gnomAD
rs761460931 CA356011328	412	V>G		No	ClinGen ExAC TOPMed gnomAD
CA356011311 rs1268522089	413	A>T		No	ClinGen gnomAD
CA2813154 CA2813153 rs760343890	414	M>I		No	ClinGen ExAC TOPMed gnomAD
CA356011274 rs1577609285	414	M>T		No	ClinGen Ensembl
CA356011267 rs775147428	415	V>L		No	ClinGen ExAC TOPMed gnomAD
rs775147428 CA2813152	415	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1021696217 CA91306730	416	A>T		No	ClinGen TOPMed
rs774395199 CA2813149	417	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2813150 rs745636856	417	P>S		No	ClinGen ExAC gnomAD
CA356011118 rs1185968989	420	Q>H		No	ClinGen TOPMed
rs1042906759 CA91306728	420	Q>R		No	ClinGen TOPMed gnomAD
CA2813147 rs749399628	421	A>T		No	ClinGen ExAC gnomAD
CA2813146 rs777782984	421	A>V		No	ClinGen ExAC gnomAD
CA91306722 rs947183197	422	P>A		No	ClinGen TOPMed gnomAD
rs201801358 CA2813145	423	A>P		No	ClinGen ExAC TOPMed gnomAD
CA356011069 rs1157636508	423	A>V		No	ClinGen TOPMed
CA356011068 rs1420161239	424	Q>*		No	ClinGen gnomAD
rs955992582 CA91306707	426	Q>*		No	ClinGen TOPMed
rs781267483 CA2813143	426	Q>P		No	ClinGen ExAC TOPMed
CA91306684 rs1031680874	428	K>R		No	ClinGen TOPMed gnomAD
CA2813108 rs762734042	436	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1011414073 CA91306441	436	E>K		No	ClinGen Ensembl
CA91306430 rs773192696	437	Q>H		No	ClinGen ExAC gnomAD
CA2813105 rs761995204	440	A>T		No	ClinGen ExAC gnomAD
rs1332257271 CA356010588	440	A>V		No	ClinGen gnomAD
rs768949087 CA2813102	444	M>I		No	ClinGen ExAC TOPMed gnomAD
rs756656144 CA2813099	447	T>M		No	ClinGen ExAC TOPMed gnomAD
CA91306383 rs1038710470	452	T>M		No	ClinGen gnomAD
rs1038710470 CA356010365	452	T>R		No	ClinGen gnomAD
CA2813097 rs779601696	453	R>W		No	ClinGen ExAC gnomAD
rs1163886065 CA356010304	455	E>D		No	ClinGen TOPMed
rs752273389 CA2813095	455	E>K		No	ClinGen ExAC gnomAD
rs780510850 CA2813093	458	L>V		No	ClinGen ExAC gnomAD
rs751281561 CA2813091	459	I>V		No	ClinGen ExAC
CA356010144 rs1272399060	463	M>T		No	ClinGen TOPMed
CA356010156 rs1390696863	463	M>V		No	ClinGen TOPMed gnomAD
CA356010121 rs1560853124	464	A>V		No	ClinGen Ensembl
rs141590096 CA2813086	465	G>S		No	ClinGen ESP ExAC gnomAD
CA356010089 rs1381568009	467	R>Q		No	ClinGen gnomAD
rs745583324 CA2813048	470	P>L		No	ClinGen ExAC gnomAD
CA2813046 rs757048255	472	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs757048255 CA356009952	472	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs756065237 CA2813043	476	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2813045 rs753633687	476	D>N		No	ClinGen ExAC gnomAD
CA2813042 rs752836647	477	V>M		No	ClinGen ExAC TOPMed gnomAD
rs759685385 CA2813040	484	E>K		No	ClinGen ExAC gnomAD
rs891653344 CA91305991	486	T>M		No	ClinGen TOPMed gnomAD
CA2813036 rs773589217	489	L>M		No	ClinGen ExAC gnomAD
CA2813034 rs536605199	492	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1435880783 CA356009660	493	D>G		No	ClinGen TOPMed
rs745357806 CA2813031	494	G>S		No	ClinGen ExAC TOPMed
rs778468949 CA2813030	495	Q>H		No	ClinGen ExAC gnomAD
rs770575101 CA2813029	496	G>D		No	ClinGen ExAC gnomAD
rs1477726397 CA356009611	497	S>G		No	ClinGen TOPMed
CA356009598 rs1404951816	498	T>A		No	ClinGen TOPMed gnomAD
rs1334280961 CA356009586	499	T>A		No	ClinGen gnomAD
rs1467044454 CA356009577	499	T>N		No	ClinGen gnomAD
CA356009537 rs1318741248	502	V>A		No	ClinGen gnomAD
CA356009534 rs1426626443	503	D>N		No	ClinGen gnomAD
rs1470549643 CA356009470	507	E>Q		No	ClinGen TOPMed
rs771874119 CA2813026	507	E>V		No	ClinGen ExAC gnomAD
CA356009397 rs1460899155	511	A>T		No	ClinGen gnomAD
CA356009381 rs1200742495	512	T>M		No	ClinGen gnomAD
CA356009344 rs1560852255	515	W>C		No	ClinGen Ensembl
CA2813023 rs781262674	516	T>M		No	ClinGen ExAC gnomAD
CA2813021 rs147798651	517	R>C		No	ClinGen ESP ExAC gnomAD
rs943057284 CA91305830	520	K>R		No	ClinGen Ensembl
CA91305824 rs908865110	521	Y>F		No	ClinGen Ensembl
rs929528469 CA91305815	522	K>Q		No	ClinGen gnomAD
rs1393536205 CA356009224	522	K>R		No	ClinGen TOPMed
CA91305804 rs919455853	524	M>I		No	ClinGen Ensembl
CA2813017 rs750770878	524	M>V		No	ClinGen ExAC gnomAD
rs765522511 CA2813016	526	N>S		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9H3P2

1 regional properties for Q9H3P2

Type	Name	Position	InterPro Accession
domain	Hepatitis delta antigen (HDAg) domain	89 - 248	IPR037517

Functions

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

5 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
NELF complex	A complex of five proteins, designated NELF-A, -B, -C, -D, and -E in human, that can physically associate with RNP polymerase II to induce transcriptional pausing.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
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.

2 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.

3 GO annotations of biological process

Name	Definition
negative regulation of transcription elongation by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II.
positive regulation of histone H3-K4 methylation	Any process that activates or increases the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 4 of histone H3.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BG30	Nelfa	Negative elongation factor A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MASMRESDTG	LWLHNKLGAT	DELWAPPSIA	SLLTAAVIDN	IRLCFHGLSS	AVKLKLLLGT
70	80	90	100	110	120
LHLPRRTVDE	MKGALMEIIQ	LASLDSDPWV	LMVADILKSF	PDTGSLNLEL	EEQNPNVQDI
130	140	150	160	170	180
LGELREKVGE	CEASAMLPLE	CQYLNKNALT	TLAGPLTPPV	KHFQLKRKPK	SATLRAELLQ
190	200	210	220	230	240
KSTETAQQLK	RSAGVPFHAK	GRGLLRKMDT	TTPLKGIPKQ	APFRSPTAPS	VFSPTGNRTP
250	260	270	280	290	300
IPPSRTLLRK	ERGVKLLDIS	ELDMVGAGRE	AKRRRKTLDA	EVVEKPAKEE	TVVENATPDY
310	320	330	340	350	360
AAGLVSTQKL	GSLNNEPALP	STSYLPSTPS	VVPASSYIPS	SETPPAPSSR	EASRPPEEPS
370	380	390	400	410	420
APSPTLPAQF	KQRAPMYNSG	LSPATPTPAA	PTSPLTPTTP	PAVAPTTQTP	PVAMVAPQTQ
430	440	450	460	470	480
APAQQQPKKN	LSLTREQMFA	AQEMFKTANK	VTRPEKALIL	GFMAGSRENP	CQEQGDVIQI
490	500	510	520
KLSEHTEDLP	KADGQGSTTM	LVDTVFEMNY	ATGQWTRFKK	YKPMTNVS