AiPD: Autoinhibited Protein Database

Q9UMR2

Gene name	DDX19B (DBP5, DDX19, TDBP)
Protein name	ATP-dependent RNA helicase DDX19B
Names	DEAD box RNA helicase DEAD5, DEAD box protein 19B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11269
EC number	3.6.4.13: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-116 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-116 (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

10 structures for Q9UMR2

Entry ID	Method	Resolution	Chain	Position	Source
3EWS	X-ray	270 A	A/B	54-475	PDB
3FHC	X-ray	280 A	B	68-302	PDB
3FHT	X-ray	220 A	A/B	68-479	PDB
3FMO	X-ray	251 A	B	1-300	PDB
3FMP	X-ray	319 A	B/D	1-479	PDB
3G0H	X-ray	270 A	A	54-475	PDB
6B4I	X-ray	362 A	E/F	54-479	PDB
6B4J	X-ray	340 A	E/F	54-479	PDB
6B4K	X-ray	220 A	A/B	54-479	PDB
AF-Q9UMR2-F1	Predicted				AlphaFoldDB

309 variants for Q9UMR2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8141317 rs750146529	2	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1483494649 CA396550873	6	W>L		No	ClinGen gnomAD
rs1202079010 CA396550879	7	A>T		No	ClinGen gnomAD
rs556766234 CA283439624	9	A>V		No	ClinGen 1000Genomes
CA8141318 rs755844163	11	D>E		No	ClinGen ExAC gnomAD
CA8141319 rs779826394	12	E>*		No	ClinGen ExAC gnomAD
CA396550914 rs1178747472	12	E>D		No	ClinGen gnomAD
rs779826394 CA283439638	12	E>K		No	ClinGen ExAC gnomAD
CA283439639 rs371151361	13	Q>E		No	ClinGen ESP TOPMed gnomAD
rs893197247 CA283439647	15	A>T		No	ClinGen TOPMed gnomAD
CA8141321 rs768599290	16	A>T		No	ClinGen ExAC gnomAD
CA8141322 rs778954155	16	A>V		No	ClinGen ExAC gnomAD
TCGA novel	17	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771112830 CA8141324	18	E>K		No	ClinGen ExAC gnomAD
CA396550952 rs1597461224	19	S>A		No	ClinGen Ensembl
CA283450645 rs969094658	20	L>F		No	ClinGen TOPMed
TCGA novel	21	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396554079 rs1567627845	23	L>F		No	ClinGen Ensembl
CA396554082 rs1312774574	24	H>N		No	ClinGen TOPMed
CA396554085 rs1312774574	24	H>Y		No	ClinGen TOPMed
CA8141351 rs769121149	26	K>M		No	ClinGen ExAC TOPMed gnomAD
CA396554125 rs1219161655	26	K>N		No	ClinGen gnomAD
CA283450650 rs973816158	27	E>D		No	ClinGen TOPMed gnomAD
rs1315476532 CA396554144	28	E>Q		No	ClinGen gnomAD
CA8141352 rs774660943	29	K>Q		No	ClinGen ExAC gnomAD
rs1365566105 CA396554182	30	I>S		No	ClinGen TOPMed
CA8141353 rs80086914	32	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8141354 rs766894987	32	P>R		No	ClinGen ExAC TOPMed gnomAD
rs772727702 CA8141355	34	T>A		No	ClinGen ExAC gnomAD
CA8141356 rs375232140	35	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs765980917 CA8141357	35	N>S		No	ClinGen ExAC gnomAD
CA396555115 rs1377070800	37	A>G		No	ClinGen gnomAD
rs753929931 CA8141401	41	T>P		No	ClinGen ExAC gnomAD
CA8141403 rs375629741	44	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220197385 CA396555209	44	N>S		No	ClinGen gnomAD
rs145517850 CA283452813	46	E>G		No	ClinGen ESP
CA8141405 rs199846763	47	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA396555305 rs1203650444	50	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs529853401 CA8141406	51	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA396555324 rs529853401	51	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1345081930 CA396555354	52	E>D		No	ClinGen Ensembl
rs548314087 CA396555371	53	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1428780416 CA396555510	55	D>N		No	ClinGen Ensembl
CA283453865 rs766346087	56	R>K		No	ClinGen Ensembl
TCGA novel	58	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8141422 rs765248759	59	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	66	I>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396555691 rs1248232814	68	S>R		No	ClinGen gnomAD
CA283453872 rs1033139229	71	V>A		No	ClinGen TOPMed
TCGA novel	76	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396555882 rs1478492923	80	L>R		No	ClinGen gnomAD
rs764396664 CA8141425	82	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1050420827 CA283453878	82	R>W		No	ClinGen TOPMed gnomAD
CA283453890 rs751901098	83	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8141426 rs751901098	83	D>N		No	ClinGen ExAC TOPMed gnomAD
rs781720740 CA8141428	85	N>K		No	ClinGen ExAC TOPMed gnomAD
CA8141427 rs757659949	85	N>Y		No	ClinGen ExAC gnomAD
CA396556026 rs746374309	87	P>A		No	ClinGen ExAC gnomAD
CA8141429 rs746374309	87	P>S		No	ClinGen ExAC gnomAD
rs1216810500 CA396556049	88	L>P		No	ClinGen gnomAD
CA283453917 rs777696853	88	L>V		No	ClinGen Ensembl
CA396556074 rs1357220033	89	Y>C		No	ClinGen gnomAD
CA8141430 rs755584161	89	Y>H		No	ClinGen ExAC gnomAD
CA396556094 rs1230204586	90	S>L		No	ClinGen gnomAD
CA396556128 rs1489773228	92	K>R		No	ClinGen gnomAD
CA396556206 rs1406756365	96	E>A		No	ClinGen TOPMed
rs774184558 CA8141434	97	L>V		No	ClinGen ExAC TOPMed gnomAD
rs772047383 CA8141436	98	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8141435 rs747948624	98	R>W		No	ClinGen ExAC gnomAD
rs1393702129 CA396557143	101	P>S		No	ClinGen TOPMed
TCGA novel	102	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396557155 rs1158942652	103	L>I		No	ClinGen gnomAD
rs1158942652 CA396557156	103	L>V		No	ClinGen gnomAD
TCGA novel	104	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283455311 rs779047963	105	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1452142406 CA396557181	107	V>L		No	ClinGen gnomAD
TCGA novel rs1158447296 CA396557189	108	Y>C	Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396557197 rs1488338464	109	A>D		No	ClinGen gnomAD
TCGA novel	109	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334802142 CA396557233	114	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770754747 CA8141456	114	R>H		No	ClinGen ExAC gnomAD
rs1334802142 CA396557231	114	R>S		No	ClinGen gnomAD
CA396557260 rs1373449851	118	I>T		No	ClinGen TOPMed
TCGA novel	118	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376392454 CA396557286	121	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA8141459 rs764216902	122	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1265907045 CA396557302	124	P>Q		No	ClinGen gnomAD
CA283455357 rs942189504	125	L>M		No	ClinGen Ensembl
rs1396461413 CA396557315	126	M>I		No	ClinGen TOPMed
rs1190874856 CA396557327	128	A>G		No	ClinGen gnomAD
rs897903310 CA283455368	128	A>T		No	ClinGen Ensembl
rs933326553 CA283455377	130	P>L		No	ClinGen gnomAD
rs1435332191 CA396558579	132	Q>*		No	ClinGen gnomAD
rs61757207 CA8141478	133	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA283460922 rs1056967453	134	L>V		No	ClinGen TOPMed gnomAD
CA283460964 rs1012426791	145	T>I		No	ClinGen TOPMed
VAR_052160 CA283460969 rs34607244	149	V>L		No	ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD
CA8141483 rs34607244	149	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA919734923 rs1597493385	150	L>P		No	ClinGen Ensembl
rs773546450 CA8141484	152	M>V		No	ClinGen ExAC gnomAD
CA396558846 rs1334958773	154	S>N		No	ClinGen TOPMed
rs1406563313 CA396558858	155	Q>R		No	ClinGen gnomAD
CA8141485 rs760932169	156	V>L		No	ClinGen ExAC TOPMed gnomAD
CA283460973 rs868052589	158	P>S		No	ClinGen Ensembl
rs75820607 CA8141486	159	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs75820607 CA8141487	159	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8141488 rs760155888	161	K>E		No	ClinGen ExAC gnomAD
rs1305298565 CA396558949	162	Y>F		No	ClinGen gnomAD
CA396558942 rs1271229615	162	Y>H		No	ClinGen TOPMed
rs962994610 CA283461009	164	Q>*		No	ClinGen TOPMed
CA283461794 rs1026400851	165	C>F		No	ClinGen TOPMed gnomAD
CA396559002 rs1182622129	167	C>R		No	ClinGen TOPMed
CA8141507 rs776132389	171	T>A		No	ClinGen ExAC gnomAD
rs776132389 CA396559031	171	T>P		No	ClinGen ExAC gnomAD
rs776132389 CA396559034	171	T>S		No	ClinGen ExAC gnomAD
rs762357250 CA8141508	172	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA8141510 rs751106898 COSM194814	175	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1486560392 CA396559187	178	T>A		No	ClinGen TOPMed
CA283461863 rs140554740	179	G>R		No	ClinGen ESP TOPMed
CA396559225 rs1313985840	180	K>E		No	ClinGen gnomAD
rs756280078 CA8141511	181	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777893383 CA283461878	182	I>T		No	ClinGen Ensembl
rs767204262 CA8141512	183	E>K		No	ClinGen ExAC gnomAD
rs1342443178 CA396559410	185	M>I		No	ClinGen TOPMed
CA396559455 rs1282684179	187	K>I		No	ClinGen gnomAD
CA396559482 rs1382152802	188	F>C		No	ClinGen gnomAD
CA8141514 rs150416272	191	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs779949295 CA8141515	195	A>V		No	ClinGen ExAC TOPMed gnomAD
rs749257884 CA8141516	196	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs749257884 CA396559623	196	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA396559668 rs375444457	197	A>G		No	ClinGen ESP ExAC gnomAD
CA8141517 rs375444457	197	A>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	198	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178743004 CA396559701	199	R>Q		No	ClinGen gnomAD
rs747153226 CA8141519	203	L>M		No	ClinGen ExAC gnomAD
CA396561392 rs1255940872	206	G>D		No	ClinGen TOPMed
CA8141536 rs766199346	207	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1597501173 CA396561403	208	K>E		No	ClinGen Ensembl
rs753674711 CA8141537	211	E>D		No	ClinGen ExAC TOPMed gnomAD
CA283464979 rs910836569	215	I>T		No	ClinGen TOPMed
CA396561506 rs1223503540	217	T>I		No	ClinGen gnomAD
CA396561502 rs1223503540	217	T>N		No	ClinGen gnomAD
CA396561511 rs1341612803	218	P>S		No	ClinGen gnomAD
CA396561536 rs747085071	220	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396561540 rs1272595007	220	T>I		No	ClinGen gnomAD
CA8141540 rs747085071	220	T>S		No	ClinGen ExAC TOPMed gnomAD
CA396561549 rs1597501262	221	V>M		No	ClinGen Ensembl
CA396561562 rs1222953281	222	L>M		No	ClinGen gnomAD
CA8141542 rs781552549	223	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs746102042 CA8141543	225	C>G		No	ClinGen ExAC gnomAD
CA396561668 rs1198686195	227	K>R		No	ClinGen gnomAD
CA283465017 rs138232298	233	P>R		No	ClinGen ESP
rs770219918 CA8141544	233	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1171030637 CA396561784	234	K>Q		No	ClinGen TOPMed
CA8141547 rs769173995	237	K>E		No	ClinGen ExAC gnomAD
CA396561885 rs1441703159	237	K>M		No	ClinGen TOPMed
CA8141548 rs774787260	238	V>M		No	ClinGen ExAC TOPMed gnomAD
CA396562144 rs1231068901	248	I>V		No	ClinGen TOPMed
CA396562182 rs1212030751	249	A>V		No	ClinGen TOPMed
rs1312539055 CA396562237	251	Q>H		No	ClinGen TOPMed
CA8141553 rs766036962	255	D>V		No	ClinGen ExAC gnomAD
CA396562370 COSM972999 rs1277563049 COSM1153003	259	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA283465090 rs369244897	262	R>K		No	ClinGen ESP TOPMed
rs767658230 CA8141580	265	P>L		No	ClinGen ExAC gnomAD
CA396562499 rs1334920391	265	P>S		No	ClinGen gnomAD
rs1015080419 CA283465661	270	M>I		No	ClinGen Ensembl
rs756212726 CA8141583	275	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396562746 rs1236769469	279	D>Y		No	ClinGen gnomAD
CA396562762 rs1197776238	280	S>T		No	ClinGen gnomAD
rs1278912755 CA396562793	282	W>*		No	ClinGen gnomAD
rs1404087088 CA396562799	282	W>C		No	ClinGen TOPMed
CA396562810 rs1323576936	283	K>R		No	ClinGen gnomAD
CA396562859 rs1247279665	286	Q>K		No	ClinGen gnomAD
CA396562896 rs1433740854	287	K>R		No	ClinGen TOPMed
rs1392839488 CA396562913	288	V>L		No	ClinGen TOPMed
CA8141585 rs367757760	294	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1460586711 CA396563100	297	L>M		No	ClinGen gnomAD
CA396563145 rs1180282628	299	R>C		No	ClinGen TOPMed
rs755300743 CA8141586	299	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755300743 CA396563157	299	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1253059920 CA396563166	300	E>K		No	ClinGen gnomAD
CA8141587 rs779276618	300	E>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	301	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8141590 rs778295150	308	K>T		No	ClinGen ExAC gnomAD
rs746520839 CA8141591	310	Y>C		No	ClinGen ExAC gnomAD
rs1217511604 CA396563511	311	Y>C		No	ClinGen TOPMed
CA8141592 rs770409415	313	L>P		No	ClinGen ExAC gnomAD
rs1173098731 CA396563614	315	S>N		No	ClinGen gnomAD
rs776293774 CA8141593	315	S>R		No	ClinGen ExAC gnomAD
rs745512329 CA8141594	316	S>I		No	ClinGen ExAC gnomAD
rs769592900 CA8141595	317	R>K		No	ClinGen ExAC TOPMed gnomAD
CA396563693 rs1465483040	318	D>N		No	ClinGen gnomAD
rs762891523 CA8141597	319	E>D		No	ClinGen ExAC gnomAD
CA396563731 rs1307270798	319	E>K		No	ClinGen gnomAD
rs1018436045 CA283465779	320	K>Q		No	ClinGen Ensembl
rs764121468 CA8141598	321	F>L		No	ClinGen ExAC
rs1567639422 CA396563796	322	Q>K		No	ClinGen Ensembl
rs991668204 CA396563873	325	C>G		No	ClinGen TOPMed gnomAD
rs991668204 CA283465781	325	C>S		No	ClinGen TOPMed gnomAD
rs566066316 CA8141599	327	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA396563932 rs1252722411	328	Y>C		No	ClinGen gnomAD
COSM1249880 COSM1249881 rs1195593171 CA396563944	329	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA283465813 rs530175934	330	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8141602 rs530175934	330	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8141603 rs755175213	331	I>T		No	ClinGen ExAC gnomAD
CA396563976 rs1373290463	331	I>V		No	ClinGen TOPMed
CA396563999 rs1268242700	332	T>I		No	ClinGen TOPMed gnomAD
CA396563997 rs1268242700	332	T>N		No	ClinGen TOPMed gnomAD
rs765489868 CA8141604	333	I>V		No	ClinGen ExAC gnomAD
rs1419855109 CA396564017	335	Q>E		No	ClinGen TOPMed
CA396564019 rs1419855109	335	Q>K		No	ClinGen TOPMed
TCGA novel	340	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396564494 rs1433878491	342	T>S		No	ClinGen gnomAD
CA396564504 rs1245987535	343	R>C		No	ClinGen gnomAD
rs758707810 CA283467449	343	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758707810 CA8141627	343	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8141628 rs758707810	343	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8141629 rs752066690	347	S>I		No	ClinGen ExAC gnomAD
CA283467469 rs370167056	348	W>G		No	ClinGen Ensembl
CA8141630 rs757728163	349	L>P		No	ClinGen ExAC gnomAD
rs1203191954 CA396564668	350	A>V		No	ClinGen TOPMed
CA283467480 rs899218729	351	A>T		No	ClinGen Ensembl
CA8141631 rs576285391	354	S>A		No	ClinGen ExAC TOPMed gnomAD
CA396564726 rs576285391	354	S>P		No	ClinGen ExAC TOPMed gnomAD
CA8141633 rs755741830	359	Q>*		No	ClinGen ExAC gnomAD
CA396564820 rs1464537894	359	Q>H		No	ClinGen gnomAD
CA283467491 rs1043541283	361	A>G		No	ClinGen TOPMed
rs143728363 CA8141635	364	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA396564924 rs1298979511	365	G>A		No	ClinGen TOPMed
rs778591805 CA8141637	369	V>M		No	ClinGen ExAC gnomAD
CA396565040 rs1567640614	371	Q>H		No	ClinGen Ensembl
CA396565052 rs1412872472	372	R>T		No	ClinGen gnomAD
TCGA novel	373	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396565086 rs1419569821	374	A>P		No	ClinGen gnomAD
rs371891373 CA8141640	375	V>M		No	ClinGen ESP ExAC
CA396565159 rs1173671097	377	E>A		No	ClinGen TOPMed
rs201138312 CA283467571	377	E>Q		No	ClinGen TOPMed gnomAD
rs1434684486 CA396565183	378	R>C		No	ClinGen TOPMed
rs769879423 CA8141642	378	R>H	Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1302626565 CA396565220	380	R>*		No	ClinGen TOPMed gnomAD
rs1302626565 CA396565217	380	R>G		No	ClinGen TOPMed gnomAD
CA396565226 rs1374554801	380	R>P		No	ClinGen TOPMed gnomAD
CA396565223 rs1374554801	380	R>Q		No	ClinGen TOPMed gnomAD
CA396565235 rs1250174782	381	E>Q		No	ClinGen TOPMed
CA8141643 rs775627107	383	K>R		No	ClinGen ExAC gnomAD
CA8141644 rs576702740	384	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	384	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368591704 CA8141646	386	V>I		No	ClinGen ESP ExAC TOPMed
CA396565404 rs1416444187	388	V>L		No	ClinGen gnomAD
rs1030931305 CA283467643	390	T>N		No	ClinGen TOPMed gnomAD
CA396565448 rs1030931305	390	T>S		No	ClinGen TOPMed gnomAD
rs556054909 CA8141648	391	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396565485 rs1460139242	392	V>L		No	ClinGen gnomAD
CA396565556 rs755616911	395	R>C		No	ClinGen ExAC gnomAD
rs755616911 CA8141651	395	R>S		No	ClinGen ExAC gnomAD
rs1361728512 CA396565571	396	G>S		No	ClinGen gnomAD
CA8141676 rs752410257	397	I>M		No	ClinGen ExAC gnomAD
CA396566651 rs1419798336	397	I>T		No	ClinGen TOPMed gnomAD
rs150735714 CA8141678	399	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425822088 CA396566703	400	E>K		No	ClinGen gnomAD
CA8141679 rs575737910	404	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1435850462 CA396566810	405	V>I		No	ClinGen gnomAD
rs1213096880 CA396566836	406	I>T		No	ClinGen gnomAD
CA8141681 rs781149327	406	I>V		No	ClinGen ExAC gnomAD
rs1272168796 CA396566873	408	F>S		No	ClinGen gnomAD
CA8141683 rs536347321	410	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs536347321 CA8141682	410	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs772275413 CA8141686	412	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8141687 rs773686037	416	G>R		No	ClinGen ExAC gnomAD
CA8141688 rs761158066	417	N>S		No	ClinGen ExAC gnomAD
rs1165945177 CA396567148	425	H>P		No	ClinGen TOPMed gnomAD
CA396567155 rs1314116066	426	R>Q		No	ClinGen TOPMed
TCGA novel	429	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283468933 rs878917609	430	T>M		No	ClinGen Ensembl
CA8141693 rs752256236	432	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1297176848 CA396567236	433	F>L		No	ClinGen gnomAD
TCGA novel	435	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1322068864 CA396567258	435	K>R		No	ClinGen TOPMed
rs758096529 CA8141694	439	A>T		No	ClinGen ExAC gnomAD
rs956367335 CA283468966	440	V>M		No	ClinGen TOPMed gnomAD
rs1459290158 CA396567342	442	M>V		No	ClinGen TOPMed
CA396567357 rs1209237724	443	V>M		No	ClinGen gnomAD
CA8141696 rs751326230	444	D>N		No	ClinGen ExAC gnomAD
rs573180584 CA8141697	448	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396567455 rs1381530202	449	M>I		No	ClinGen TOPMed gnomAD
CA396567508 rs74024202	453	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1465503601 CA396567617	458	H>R		No	ClinGen TOPMed
CA8141717 rs756052199	460	N>S		No	ClinGen ExAC gnomAD
rs1395243314 CA396567745	467	D>N		No	ClinGen gnomAD
rs1352238694 CA396567785	469	D>E		No	ClinGen TOPMed gnomAD
rs919789440 CA283469437	469	D>G		No	ClinGen Ensembl
TCGA novel	469	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	469	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283469438 rs922642323	470	D>Y		No	ClinGen TOPMed
CA8141721 rs74026003 CA8141720	472	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1341163422 CA396567841	473	E>D		No	ClinGen TOPMed
rs747241311 CA8141722	473	E>G		No	ClinGen ExAC gnomAD
CA283469454 rs1047256162	473	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771383272 CA396567848	474	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1160342246 CA396567851	474	I>T		No	ClinGen TOPMed
rs771383272 CA8141723	474	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1253915836 CA396567865	475	E>G		No	ClinGen gnomAD
CA396567903 rs1457085520	477	I>M		No	ClinGen TOPMed
CA396567916 rs1597508233	478	A>V		No	ClinGen Ensembl
rs569358193	480	N>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8141728 rs775932350	480	N>C		No	ClinGen ExAC gnomAD
CA8141724 rs781708170	480	N>G		No	ClinGen ExAC
CA8141725 rs569358193	480	N>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8141727 rs775932350	480	N>W		No	ClinGen ExAC gnomAD

No associated diseases with Q9UMR2

4 regional properties for Q9UMR2

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	306 - 474	IPR001650
domain	DEAD/DEAH box helicase domain	117 - 281	IPR011545
domain	Helicase superfamily 1/2, ATP-binding domain	111 - 310	IPR014001
domain	RNA helicase, DEAD-box type, Q motif	92 - 120	IPR014014

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Cytoplasm Nucleus, nucleoplasm	Associates with the nuclear pore complex cytoplasmic fibrils
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 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.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
nuclear pore	A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined.
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.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
helicase activity	Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA helicase activity	Unwinding of an RNA helix, driven by ATP hydrolysis.

2 GO annotations of biological process

Name	Definition
mRNA export from nucleus	The directed movement of mRNA from the nucleus to the cytoplasm.
poly(A)+ mRNA export from nucleus	The directed movement of poly(A)+ mRNA out of the nucleus into the cytoplasm.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2TBP1	DDX25	ATP-dependent RNA helicase DDX25	Bos taurus (Bovine)	PR
Q3ZBV2	DDX19A	ATP-dependent RNA helicase DDX19A	Bos taurus (Bovine)	SS
P38919	EIF4A3	Eukaryotic initiation factor 4A-III	Homo sapiens (Human)	PR
Q9NQI0	DDX4	Probable ATP-dependent RNA helicase DDX4	Homo sapiens (Human)	SS
O15523	DDX3Y	ATP-dependent RNA helicase DDX3Y	Homo sapiens (Human)	SS
O00571	DDX3X	ATP-dependent RNA helicase DDX3X	Homo sapiens (Human)	EV
Q9UHL0	DDX25	ATP-dependent RNA helicase DDX25	Homo sapiens (Human)	PR
Q9NUU7	DDX19A	ATP-dependent RNA helicase DDX19A	Homo sapiens (Human)	PR
P17844	DDX5	Probable ATP-dependent RNA helicase DDX5	Homo sapiens (Human)	PR
O00148	DDX39A	ATP-dependent RNA helicase DDX39A	Homo sapiens (Human)	PR
Q13838	DDX39B	Spliceosome RNA helicase DDX39B	Homo sapiens (Human)	PR
Q9UJV9	DDX41	Probable ATP-dependent RNA helicase DDX41	Homo sapiens (Human)	PR
Q61655	Ddx19a	ATP-dependent RNA helicase DDX19A	Mus musculus (Mouse)	SS
Q9QY15	Ddx25	ATP-dependent RNA helicase DDX25	Mus musculus (Mouse)	PR
Q10RI7	Os03g0158200	DEAD-box ATP-dependent RNA helicase 38	Oryza sativa subsp japonica (Rice)	PR
Q93ZG7	RH38	DEAD-box ATP-dependent RNA helicase 38	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MATDSWALAV	DEQEAAAESL	SNLHLKEEKI	KPDTNGAVVK	TNANAEKTDE	EEKEDRAAQS
70	80	90	100	110	120
LLNKLIRSNL	VDNTNQVEVL	QRDPNSPLYS	VKSFEELRLK	PQLLQGVYAM	GFNRPSKIQE
130	140	150	160	170	180
NALPLMLAEP	PQNLIAQSQS	GTGKTAAFVL	AMLSQVEPAN	KYPQCLCLSP	TYELALQTGK
190	200	210	220	230	240
VIEQMGKFYP	ELKLAYAVRG	NKLERGQKIS	EQIVIGTPGT	VLDWCSKLKF	IDPKKIKVFV
250	260	270	280	290	300
LDEADVMIAT	QGHQDQSIRI	QRMLPRNCQM	LLFSATFEDS	VWKFAQKVVP	DPNVIKLKRE
310	320	330	340	350	360
EETLDTIKQY	YVLCSSRDEK	FQALCNLYGA	ITIAQAMIFC	HTRKTASWLA	AELSKEGHQV
370	380	390	400	410	420
ALLSGEMMVE	QRAAVIERFR	EGKEKVLVTT	NVCARGIDVE	QVSVVINFDL	PVDKDGNPDN
430	440	450	460	470
ETYLHRIGRT	GRFGKRGLAV	NMVDSKHSMN	ILNRIQEHFN	KKIERLDTDD	LDEIEKIAN