AiPD: Autoinhibited Protein Database

P17844

Gene name	DDX5 (G17P1, HELR, HLR1)
Protein name	Probable ATP-dependent RNA helicase DDX5
Names	DEAD box protein 5, RNA helicase p68
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1655
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)

448-614 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

448-614 (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 P17844

Entry ID	Method	Resolution	Chain	Position	Source
3FE2	X-ray	260 A	A/B	68-307	PDB
4A4D	X-ray	270 A	A	52-304	PDB
AF-P17844-F1	Predicted				AlphaFoldDB

349 variants for P17844

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1555672508 CA400646577	2	S>L		No	ClinGen gnomAD
CA400646582 rs1555672510	2	S>T		No	ClinGen gnomAD
rs1555672501 CA400646574	3	G>D		No	ClinGen gnomAD
CA8713811 rs782192494	3	G>S		No	ClinGen ExAC gnomAD
rs782568786 CA8713810	4	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA400646563 rs1555672495	5	S>T		No	ClinGen gnomAD
CA400646553 rs1555672492	6	S>N		No	ClinGen gnomAD
rs782357234 CA8713809	10	R>G		No	ClinGen ExAC gnomAD
rs1249413951 CA400646524	10	R>H		No	ClinGen TOPMed
rs782357234 CA400646528	10	R>S		No	ClinGen ExAC gnomAD
rs1555672475 CA400646519	11	G>A		No	ClinGen gnomAD
rs1555672475 CA400646520	11	G>D		No	ClinGen gnomAD
rs782212195 CA8713806	12	R>W		No	ClinGen ExAC gnomAD
CA400646499 rs1555672472	14	R>G		No	ClinGen Ensembl
CA293027694 rs980757632	14	R>Q		No	ClinGen gnomAD
CA8713805 rs782638925	15	G>E		No	ClinGen ExAC gnomAD
CA8713744 rs782026018	17	G>C		No	ClinGen ExAC gnomAD
CA8713743 rs782026018	17	G>S		No	ClinGen ExAC gnomAD
rs375435949 CA8713742	18	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1555671842 CA400646187	19	P>L		No	ClinGen gnomAD
rs1555671844 CA400646192	19	P>S		No	ClinGen Ensembl
CA400646179 rs781913395	20	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8713740 rs781913395	20	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8713738 rs782215315	21	F>C		No	ClinGen ExAC gnomAD
rs782359264 CA8713739	21	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8713736 rs782492917	22	G>R		No	ClinGen ExAC gnomAD
CA400646144 rs1555671828	24	S>N		No	ClinGen gnomAD
rs1555671827 CA400646133	25	R>K		No	ClinGen gnomAD
rs200394866 CA293026235	26	A>P		No	ClinGen TOPMed gnomAD
rs200394866 CA293026258	26	A>T		No	ClinGen TOPMed gnomAD
CA400646120 rs1459375270	26	A>V		No	ClinGen TOPMed gnomAD
rs782435799 CA8713733	27	G>A		No	ClinGen ExAC gnomAD
rs782580481 CA8713734	27	G>R		No	ClinGen ExAC
rs782737200 CA8713731	28	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8713729 rs781858916	30	S>P		No	ClinGen ExAC gnomAD
TCGA novel	32	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400646073 rs1385150354	32	K>Q		No	ClinGen TOPMed gnomAD
rs1555671815 CA400646045	34	F>S		No	ClinGen gnomAD
CA400646015 rs1338857746	37	P>S		No	ClinGen TOPMed
rs782094805 CA400645993	39	E>D		No	ClinGen ExAC TOPMed gnomAD
CA293026181 rs201170209	40	K>R		No	ClinGen 1000Genomes
rs1555671812 CA400645979	41	L>S		No	ClinGen gnomAD
rs1555671809 CA400645966	43	K>E		No	ClinGen gnomAD
CA400645947 rs1242626366	44	K>N		No	ClinGen TOPMed
CA8713723 rs781952241	44	K>R		No	ClinGen ExAC gnomAD
CA400645923 rs1555671802	47	N>D		No	ClinGen gnomAD
CA400645919 rs1351762319	47	N>I		No	ClinGen TOPMed
CA400645921 rs1351762319	47	N>T		No	ClinGen TOPMed
rs782388844 CA8713721	49	D>N		No	ClinGen ExAC gnomAD
CA8713720 rs370867048	52	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs371193636 CA8713719	53	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	53	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555671795 CA400645855	54	F>C		No	ClinGen gnomAD
CA8713717 rs782176370	55	E>A		No	ClinGen ExAC gnomAD
rs1555671794 CA400645852	55	E>K		No	ClinGen gnomAD
CA8713716 rs782629099	56	K>N		No	ClinGen ExAC gnomAD
CA293026148 rs971468924	58	F>V		No	ClinGen Ensembl
rs782345346 CA8713715	60	Q>L		No	ClinGen ExAC TOPMed
CA8713714 rs533155437	63	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA400645773 rs1555671787	66	A>S		No	ClinGen gnomAD
rs1555671786 CA400645768	66	A>V		No	ClinGen gnomAD
CA8713712 rs782560520	68	R>C		No	ClinGen ExAC gnomAD
rs1555671783 CA400645758	68	R>H		No	ClinGen gnomAD
rs112970363 CA293026130	69	T>A		No	ClinGen Ensembl
CA400645747 rs377754474	70	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377754474 CA8713709	70	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400645732 rs1598151735	71	Q>E		No	ClinGen Ensembl
CA8713669 rs781996716	71	Q>H		No	ClinGen ExAC gnomAD
CA8713668 rs61999271	73	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142239131 CA8713666	74	E>D		No	ClinGen ESP ExAC gnomAD
rs1358101819 CA400645702	75	T>I		No	ClinGen TOPMed
rs758505488 CA293025898	75	T>P		No	ClinGen Ensembl
CA8713663 rs373719318	78	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA400645671 rs1332965978	80	K>E		No	ClinGen TOPMed
rs781860675 CA8713661	80	K>R		No	ClinGen ExAC gnomAD
CA400645638 rs1555671698	85	R>G		No	ClinGen TOPMed
CA400645621 rs1555671696	87	H>Y		No	ClinGen gnomAD
CA400645614 rs1346093639	88	N>D		No	ClinGen TOPMed gnomAD
rs782693624 CA8713657	88	N>S		No	ClinGen ExAC gnomAD
rs375555795 CA8713656	90	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA400645596 rs1441935456	90	P>L		No	ClinGen TOPMed gnomAD
CA400645597 rs1441935456	90	P>R		No	ClinGen TOPMed gnomAD
rs375555795 CA400645600	90	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1555671680 CA400645591	91	K>R		No	ClinGen gnomAD
CA400645577 rs1555671678	93	V>A		No	ClinGen gnomAD
CA8713654 rs146006180	94	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8713655 rs146006180	94	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1240094648 CA400645552	97	Y>C		No	ClinGen TOPMed
CA400645543 rs1456639309	98	E>D		No	ClinGen TOPMed
CA8713653 rs371163937	98	E>K		No	ClinGen ESP ExAC gnomAD
rs142511928 CA8713652	99	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1046732563 CA293025851	99	A>V		No	ClinGen Ensembl
rs1555671669 CA400645536	100	N>D		No	ClinGen gnomAD
rs949355244 CA293025845	100	N>S		No	ClinGen TOPMed gnomAD
CA8713650 rs547799852	102	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA400645516 rs1170744585	103	A>P		No	ClinGen TOPMed
CA400645498 rs1598151284	103	A>V		No	ClinGen Ensembl
rs376128352 CA8713613	105	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA400645478 rs1471632126	106	M>I		No	ClinGen TOPMed
CA8713610 rs781823746	108	V>I		No	ClinGen ExAC TOPMed gnomAD
rs2229794 CA400645456	109	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA293025744 rs75927621	110	A>S		No	ClinGen Ensembl
CA400645447 rs1568104698	111	R>T		No	ClinGen Ensembl
rs1555671630 CA400645414	115	T>I		No	ClinGen gnomAD
rs1555671628 CA400645407	116	E>D		No	ClinGen gnomAD
rs1555671626 CA400645369	122	A>G		No	ClinGen gnomAD
CA400645302 rs1555671620	132	L>F		No	ClinGen gnomAD
TCGA novel	134	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146417927 CA8713605	134	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA400645269 rs1598151174	137	V>G		No	ClinGen Ensembl
CA400645172 rs1236766323	150	L>F		No	ClinGen TOPMed
CA400645166 rs1177445085	151	P>S		No	ClinGen TOPMed
CA400645160 rs1379943242	152	A>S		No	ClinGen TOPMed gnomAD
rs781804034 CA8713560	154	V>I		No	ClinGen ExAC gnomAD
TCGA novel	157	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400645124 rs1449304449	157	N>S		No	ClinGen TOPMed gnomAD
CA8713558 rs146227291	160	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA293025529 rs895034348	163	E>D		No	ClinGen Ensembl
rs1555671553 CA400645064	166	D>G		No	ClinGen gnomAD
rs371660024 CA8713554	166	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8713551 rs781979552	169	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400645013 rs1212415307	172	V>L		No	ClinGen TOPMed gnomAD
CA8713515 rs782126204	173	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400645008 rs782126204	173	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1555671489 CA400645001	174	A>E		No	ClinGen gnomAD
rs1555671488 CA400644991	176	T>A		No	ClinGen gnomAD
rs782801194 CA8713513	181	Q>R		No	ClinGen ExAC gnomAD
CA400644919 rs1555671484	187	A>T		No	ClinGen gnomAD
CA293025242 rs200672228	190	Y>H		No	ClinGen 1000Genomes gnomAD
CA400644899 rs200672228	190	Y>N		No	ClinGen 1000Genomes gnomAD
CA8713511 rs781922880	195	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8713510 rs782356381	195	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM400533 COSM400534 CA400644858 rs1425862920	196	L>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA400644848 rs1416100590	197	K>R		No	ClinGen TOPMed gnomAD
CA293025235 rs782059766	199	T>A		No	ClinGen Ensembl
CA8713507 rs374030868	199	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA400644834 rs1555671477	200	C>R		No	ClinGen gnomAD
CA400644791 rs1555671473	206	P>S		No	ClinGen gnomAD
rs782308251 CA8713504	207	K>R		No	ClinGen ExAC gnomAD
CA8713503 rs782226364	209	P>Q		No	ClinGen ExAC
rs1279332544 CA400644760	211	I>V		No	ClinGen TOPMed gnomAD
CA8713501 rs782505610	212	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8713502 rs782603313	212	R>S		No	ClinGen ExAC gnomAD
rs1221412749 CA400644737	214	L>F		No	ClinGen TOPMed
CA400644725 rs1555671467	216	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1555671451 CA400644704	217	G>A		No	ClinGen gnomAD
CA293025195 rs979259527	217	G>S		No	ClinGen Ensembl
CA400644702 rs1555671449	218	V>M		No	ClinGen gnomAD
CA8713470 rs781854799	219	E>D		No	ClinGen ExAC gnomAD
rs1407371923 CA400644695	219	E>Q		No	ClinGen TOPMed
rs782786424 CA8713469	221	C>S		No	ClinGen ExAC gnomAD
rs782464208 CA8713468	223	A>T		No	ClinGen ExAC gnomAD
rs782743275 CA8713466	228	L>V		No	ClinGen ExAC gnomAD
TCGA novel	237	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8713464 rs368634731	239	L>M		No	ClinGen ESP ExAC gnomAD
CA400644531 rs1324713910	241	R>T		No	ClinGen TOPMed gnomAD
CA400644513 rs1284934565	243	T>S		No	ClinGen TOPMed
CA400644500 rs1358217908	245	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	249	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555671437 CA400644412	256	M>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA293025055 rs11545623	257	G>V		No	ClinGen Ensembl
rs1555671435 CA400644315	269	I>M		No	ClinGen gnomAD
COSM1630343 COSM1630344 CA400644320 rs1488604088	269	I>V	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1218638314	270	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8713435 rs782168281	276	L>V		No	ClinGen ExAC gnomAD
rs1468460357 CA400644201	284	K>E		No	ClinGen TOPMed
rs782224906 CA8713432	285	E>D		No	ClinGen ExAC gnomAD
rs1568103169 CA400644159	290	A>P		No	ClinGen Ensembl
rs1555671406 CA400644145	292	D>H		No	ClinGen gnomAD
rs200084610 CA293024979	294	L>P		No	ClinGen 1000Genomes
rs1555671404 CA400644129	294	L>V		No	ClinGen gnomAD
rs997475439 CA293024972	295	K>Q		No	ClinGen Ensembl
rs782241488 CA400644115	296	D>G		No	ClinGen ExAC gnomAD
rs782241488 CA8713428	296	D>V		No	ClinGen ExAC gnomAD
rs782528692 CA8713426	298	I>S		No	ClinGen ExAC gnomAD
TCGA novel	304	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8713424 rs782575221 COSM982912 COSM982911	305	L>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	306	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	312	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293024956 rs373928581	314	L>F		No	ClinGen ESP
TCGA novel	317	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370378223 CA8713418	322	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8713417 rs574865633	323	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	324	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555671389 CA400643907	326	D>N		No	ClinGen gnomAD
rs782440358 CA8713371	330	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8713372 rs782801888	330	I>V		No	ClinGen ExAC gnomAD
rs781795658 CA8713370	331	R>H		No	ClinGen ExAC gnomAD
rs3922210 CA400643823	335	E>D		No	ClinGen Ensembl
CA8713368 rs782090087	335	E>V		No	ClinGen ExAC gnomAD
CA400643799 rs544762345	338	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs782170028 CA400643768	342	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1555671299 CA400643770	342	N>S		No	ClinGen gnomAD
rs868938618 CA400643753	344	T>I		No	ClinGen Ensembl
rs1555671293 CA400643661	357	L>P		No	ClinGen gnomAD
rs782016494 CA8713364	359	R>S		No	ClinGen ExAC gnomAD
CA8713363 rs782326949	360	K>R		No	ClinGen ExAC TOPMed gnomAD
rs769020 CA293024541	362	R>K		No	ClinGen Ensembl
rs782390514 CA8713329	366	W>C		No	ClinGen ExAC gnomAD
TCGA novel	366	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555671207 CA400643562	369	M>I		No	ClinGen gnomAD
rs1555671209 CA400643568 COSM3742390 COSM3742389	369	M>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	370	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	372	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	380	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	381	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555671202 CA400643464	382	W>C		No	ClinGen gnomAD
CA400643423 rs1555671180	386	E>D		No	ClinGen gnomAD
CA8713297 rs781786814	387	F>L		No	ClinGen ExAC gnomAD
CA8713295 rs373380103	389	H>Y		No	ClinGen ESP ExAC gnomAD
rs1555671177 CA400643376	393	P>R		No	ClinGen gnomAD
TCGA novel	393	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs942579575 CA293020901	401	A>T		No	ClinGen Ensembl
TCGA novel	408	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868928598 CA400643182	420	N>Y		No	ClinGen Ensembl
TCGA novel	425	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782201684 CA8713259	434	R>C		No	ClinGen ExAC gnomAD
CA400643070 rs1568100508	436	T>I		No	ClinGen Ensembl
rs1206643911 CA400643065	437	K>R		No	ClinGen TOPMed
CA400642992 rs1411017878	448	N>T		No	ClinGen TOPMed gnomAD
CA8713256 rs781825945	449	N>D		No	ClinGen ExAC gnomAD
rs1598146087 CA400642979	450	I>V		No	ClinGen Ensembl
rs369801003 COSM982909 CA293020488 COSM982910	455	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA8713254 rs782549207	459	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8713253 rs559742081	461	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400642902 rs559742081	461	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	466	A>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	466	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs985096030 CA293020470	467	I>V		No	ClinGen TOPMed gnomAD
CA400642809 rs1555670896	475	V>I		No	ClinGen gnomAD
rs372855421 CA8713247	476	E>G		No	ClinGen ESP ExAC gnomAD
CA400642803 rs1555670894	476	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782158885 CA8713245	478	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8713242 rs782227243	479	G>D		No	ClinGen ExAC
CA8713243 rs782314374	479	G>S		No	ClinGen ExAC TOPMed gnomAD
VAR_029241 rs1140409 CA8713241	480	S>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400642752 COSM3520967 rs1555670826 COSM3520968	482	R>C	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8713216 rs782353387	482	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1362974306 CA400642745	483	S>C		No	ClinGen TOPMed gnomAD
rs1362974306 CA400642744	483	S>F		No	ClinGen TOPMed gnomAD
rs551152489 CA8713215	484	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1284284492 CA400642739	484	R>S		No	ClinGen TOPMed
CA400642733 rs1226107225	485	G>A		No	ClinGen TOPMed
rs1226107225 CA400642732	485	G>D		No	ClinGen TOPMed
TCGA novel	486	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288793124 CA400642720	487	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1465047288 CA400642715	488	G>A		No	ClinGen TOPMed gnomAD
rs1465047288 CA400642716	488	G>D		No	ClinGen TOPMed gnomAD
rs141797595 CA8713213	488	G>S		No	ClinGen ESP ExAC gnomAD
rs537647458 CA400642689	491	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400642692 rs1555670814	491	D>G		No	ClinGen gnomAD
rs782455211 CA8713210	493	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400642676 rs1188420568	493	R>H		No	ClinGen TOPMed
rs928420604 CA293020208	494	R>Q		No	ClinGen TOPMed gnomAD
rs781795667 CA8713209	494	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400642665 rs1473854999	495	D>E		No	ClinGen TOPMed
TCGA novel	496	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400642653 rs1161502195	497	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1413407804 CA400642647	498	S>A		No	ClinGen TOPMed
CA8713208 rs782748084	499	A>V		No	ClinGen ExAC TOPMed gnomAD
CA400642628 rs1434303040	501	K>R		No	ClinGen TOPMed gnomAD
rs1334822212 CA400642614	503	G>D		No	ClinGen TOPMed
CA400642607 rs781875818	504	G>A		No	ClinGen ExAC TOPMed gnomAD
rs781875818 CA8713206	504	G>V		No	ClinGen ExAC TOPMed gnomAD
CA400642597 rs1555670796	506	N>D		No	ClinGen gnomAD
rs1555670796 CA400642598	506	N>H		No	ClinGen gnomAD
CA8713203 rs781931667	507	T>I		No	ClinGen ExAC TOPMed gnomAD
rs781931667 CA8713204	507	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1555670788 CA400642578	509	R>G		No	ClinGen gnomAD
CA400642576 rs1568099797	509	R>K		No	ClinGen Ensembl
rs1555670787 CA400642571	510	D>N		No	ClinGen gnomAD
CA293020182 rs1022873338	512	E>Q		No	ClinGen Ensembl
CA8713200 rs782093407	513	N>T		No	ClinGen ExAC gnomAD
rs781941504 CA400642539	514	Y>C		No	ClinGen ExAC gnomAD
rs781941504 CA8713199	514	Y>S		No	ClinGen ExAC gnomAD
TCGA novel	515	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400642534 rs1229777108	515	D>N		No	ClinGen TOPMed
rs782242839 CA8713197	518	Y>C		No	ClinGen ExAC
rs782386009 CA8713198	518	Y>H		No	ClinGen ExAC gnomAD
CA293020171 rs147929936	519	S>A		No	ClinGen ESP gnomAD
CA293020167 rs1011929460	519	S>C		No	ClinGen gnomAD
CA400642499 rs1555670782	520	S>N		No	ClinGen gnomAD
rs1555670782 CA400642501	520	S>T		No	ClinGen gnomAD
rs1555670777 CA400642489	522	L>F		No	ClinGen gnomAD
rs1555670777 CA400642490	522	L>V		No	ClinGen gnomAD
rs1555670775 CA400642484	523	K>E		No	ClinGen gnomAD
rs1327597801 CA400642466	525	D>G		No	ClinGen TOPMed
rs782040676 COSM982902 CA8713195 COSM982901	526	F>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA400642456 rs1204911864	526	F>L		No	ClinGen TOPMed
rs782407805 CA8713194	527	G>A		No	ClinGen ExAC TOPMed gnomAD
CA400642410 rs1555670771 COSM74350	533	G>A	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs782567919 CA8713191	535	Y>N		No	ClinGen ExAC gnomAD
CA8713190 rs782359859	536	S>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	536	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782217570 CA8713189	537	A>G		No	ClinGen ExAC TOPMed gnomAD
CA400642387 rs1555670764	537	A>P		No	ClinGen gnomAD
rs1184545450 CA400642381	538	A>T		No	ClinGen TOPMed
CA400642378 rs1555670758	538	A>V		No	ClinGen gnomAD
CA293020127 rs999581421	539	N>D		No	ClinGen TOPMed gnomAD
CA400642377 rs999581421	539	N>H		No	ClinGen TOPMed gnomAD
TCGA novel	539	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782756724	540	Y>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	540	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368019038 CA8713184	541	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368019038 CA8713183 COSM1610629 COSM1610628	541	T>S	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200823006 CA400642354	542	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200823006 CA8713182	542	N>S	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	543	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555670740 CA400642319	547	S>N		No	ClinGen gnomAD
rs782807438 CA8713177	550	V>M		No	ClinGen ExAC gnomAD
CA400642282 rs1555670737	553	G>S		No	ClinGen gnomAD
rs1286143301 CA400642257	556	T>I		No	ClinGen TOPMed
CA8713176 rs782155873	556	T>P		No	ClinGen ExAC gnomAD
rs1555670733 CA400642255	557	S>G		No	ClinGen gnomAD
CA293020081 rs1041173723	560	T>A		No	ClinGen Ensembl
CA400642207 rs1347790341	564	T>A		No	ClinGen TOPMed
rs782101616 CA8713173	566	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1008365318 CA400642177	568	Q>H		No	ClinGen TOPMed
rs1555670726 CA400642180	568	Q>P		No	ClinGen TOPMed gnomAD
TCGA novel	570	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782686372 CA8713169	572	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8713168 rs782325312	575	Q>E		No	ClinGen ExAC gnomAD
CA400642105 rs1199340904	578	G>A		No	ClinGen TOPMed
TCGA novel	578	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	578	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782608247 CA8713166 COSM274763 COSM274762	578	G>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA8713165 rs782481360	580	N>D		No	ClinGen ExAC gnomAD
rs781861374 CA8713164	581	V>F		No	ClinGen ExAC gnomAD
rs781861374 CA400642087	581	V>I		No	ClinGen ExAC gnomAD
rs1598144863 CA400642082	582	P>A		No	ClinGen Ensembl
CA8713163 rs782635297	582	P>R		No	ClinGen ExAC gnomAD
rs199511301 CA8713161	584	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8713162 rs782548891	584	M>T		No	ClinGen ExAC gnomAD
rs368526688 CA8713160	586	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs782058967 CA400642036 CA8713159	588	M>I		No	ClinGen ExAC gnomAD
rs781846542 CA8713158	592	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782723096 CA8713157	596	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8713156 rs782131372	597	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1555670698 CA400641974	597	A>V		No	ClinGen gnomAD
CA8713155 rs149976352	598	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8713153 rs373205244	599	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8713152 rs781919220	601	A>P		No	ClinGen ExAC TOPMed gnomAD
CA293019918 rs928380215	603	M>V		No	ClinGen TOPMed
CA8713151 rs782359285	604	I>V		No	ClinGen ExAC
rs559466356 CA293019903	608	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559466356 CA8713150	608	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8713149 rs11545621	609	P>S		No	ClinGen ExAC gnomAD
TCGA novel	611	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8713148 rs782362185	614	Q>*		No	ClinGen ExAC

No associated diseases with P17844

6 regional properties for P17844

Type	Name	Position	InterPro Accession
conserved_site	ATP-dependent RNA helicase DEAD-box, conserved site	169 - 177	IPR000629
domain	Helicase, C-terminal	241 - 405	IPR001650
domain	DEAD/DEAH box helicase domain	33 - 212	IPR011545
domain	Helicase superfamily 1/2, ATP-binding domain	28 - 237	IPR014001
domain	RNA helicase, DEAD-box type, Q motif	9 - 37	IPR014014
domain	Domain of unknown function DUF4217	402 - 465	IPR025313

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus Nucleus, nucleolus Nucleus speckle Cytoplasm	During the G0 phase, predominantly located in the nucleus Cytoplasmic levels increase during the G1/S phase During the M phase, located at the vicinity of the condensed chromosomes At G1, localizes in the cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
catalytic step 2 spliceosome	A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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 speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.
ribonucleoprotein complex	A macromolecular complex that contains both RNA and protein molecules.

13 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.
MH2 domain binding	Binding to a MH2 (MAD homology 2) protein domain. The MH2 domain is found at the carboxy-terminus of MAD related proteins such as Smads. The MH2 domain mediates interaction with a wide variety of proteins and provides specificity and selectivity to Smad function and also is critical for mediating interactions in Smad oligomers.
mRNA 3'-UTR binding	Binding to a 3' untranslated region of an mRNA molecule.
nuclear androgen receptor binding	Binding to a nuclear androgen receptor.
pre-mRNA binding	Binding to a pre-messenger RNA (pre-mRNA), an intermediate molecule between DNA and protein that may contain introns and, at least in part, encodes one or more proteins. Introns are removed from pre-mRNA to form a mRNA molecule.
primary miRNA binding	Binding to a primary microRNA (pri-miRNA) transcript, an RNA molecule that is processed into a short hairpin-shaped structure called a pre-miRNA and finally into a functional miRNA. Both double-stranded and single-stranded regions of a pri-miRNA are required for binding.
promoter-specific chromatin binding	Binding to a section of chromatin that is associated with gene promoter sequences of DNA.
R-SMAD binding	Binding to a receptor-regulated SMAD signaling protein.
ribonucleoprotein complex binding	Binding to a complex of RNA and protein.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA helicase activity	Unwinding of an RNA helix, driven by ATP hydrolysis.
SMAD binding	Binding to a SMAD signaling protein.

20 GO annotations of biological process

Name	Definition
alternative mRNA splicing, via spliceosome	The process of generating multiple mRNA molecules from a given set of exons by differential use of exons from the primary transcript(s) to form multiple mature mRNAs that vary in their exon composition.
androgen receptor signaling pathway	The series of molecular signals initiated by androgen binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
BMP signaling pathway	The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
epithelial to mesenchymal transition	A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
intracellular estrogen receptor signaling pathway	The series of molecular signals initiated by estrogen binding to an intracellular receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
intrinsic apoptotic signaling pathway by p53 class mediator	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, and ends when the execution phase of apoptosis is triggered.
miRNA transcription	The cellular synthesis of microRNA (miRNA) transcripts. MicroRNA genes are synthesized as primary (pri) miRNA transcripts and subsequently processed to produce the ~22nt miRNAs that function in gene regulation.
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
mRNA transcription	The cellular synthesis of messenger RNA (mRNA) from a DNA template.
myoblast differentiation	The process in which a relatively unspecialized cell acquires specialized features of a myoblast. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into striated muscle fibers.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
nuclear-transcribed mRNA catabolic process	The chemical reactions and pathways resulting in the breakdown of nuclear-transcribed mRNAs in eukaryotic cells.
positive regulation of DNA damage response, signal transduction by p53 class mediator	Any process that activates, maintains or increases the rate of the cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage.
positive regulation of miRNA maturation	Any process that activates or increases the frequency, rate or extent of maturation of miRNAs.
regulation of alternative mRNA splicing, via spliceosome	Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs.
regulation of androgen receptor signaling pathway	Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway.
regulation of osteoblast differentiation	Any process that modulates the frequency, rate or extent of osteoblast differentiation.
regulation of skeletal muscle cell differentiation	Any process that modulates the frequency, rate or extent of skeletal muscle cell differentiation.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
rhythmic process	Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.

24 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2NL08	DDX55	ATP-dependent RNA helicase DDX55	Bos taurus (Bovine)	PR
Q8NHQ9	DDX55	ATP-dependent RNA helicase DDX55	Homo sapiens (Human)	PR
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
Q9UMR2	DDX19B	ATP-dependent RNA helicase DDX19B	Homo sapiens (Human)	PR
Q9NUU7	DDX19A	ATP-dependent RNA helicase DDX19A	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
Q99MJ9	Ddx50	ATP-dependent RNA helicase DDX50	Mus musculus (Mouse)	PR
Q501J6	Ddx17	Probable ATP-dependent RNA helicase DDX17	Mus musculus (Mouse)	PR
Q6ZPL9	Ddx55	ATP-dependent RNA helicase DDX55	Mus musculus (Mouse)	PR
Q62167	Ddx3x	ATP-dependent RNA helicase DDX3X	Mus musculus (Mouse)	SS
Q61656	Ddx5	Probable ATP-dependent RNA helicase DDX5	Mus musculus (Mouse)	PR
Q0E2Z7	Os02g0201900	DEAD-box ATP-dependent RNA helicase 41	Oryza sativa subsp japonica (Rice)	PR
Q5QMN3	Os01g0197200	DEAD-box ATP-dependent RNA helicase 20	Oryza sativa subsp japonica (Rice)	PR
Q5N7W4	Os01g0911100	DEAD-box ATP-dependent RNA helicase 30	Oryza sativa subsp japonica (Rice)	PR
Q56X76	RH39	DEAD-box ATP-dependent RNA helicase 39	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C718	RH20	DEAD-box ATP-dependent RNA helicase 20	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8W4R3	RH30	DEAD-box ATP-dependent RNA helicase 30	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8H136	RH14	DEAD-box ATP-dependent RNA helicase 14	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSGYSSDRDR	GRDRGFGAPR	FGGSRAGPLS	GKKFGNPGEK	LVKKKWNLDE	LPKFEKNFYQ
70	80	90	100	110	120
EHPDLARRTA	QEVETYRRSK	EITVRGHNCP	KPVLNFYEAN	FPANVMDVIA	RQNFTEPTAI
130	140	150	160	170	180
QAQGWPVALS	GLDMVGVAQT	GSGKTLSYLL	PAIVHINHQP	FLERGDGPIC	LVLAPTRELA
190	200	210	220	230	240
QQVQQVAAEY	CRACRLKSTC	IYGGAPKGPQ	IRDLERGVEI	CIATPGRLID	FLECGKTNLR
250	260	270	280	290	300
RTTYLVLDEA	DRMLDMGFEP	QIRKIVDQIR	PDRQTLMWSA	TWPKEVRQLA	EDFLKDYIHI
310	320	330	340	350	360
NIGALELSAN	HNILQIVDVC	HDVEKDEKLI	RLMEEIMSEK	ENKTIVFVET	KRRCDELTRK
370	380	390	400	410	420
MRRDGWPAMG	IHGDKSQQER	DWVLNEFKHG	KAPILIATDV	ASRGLDVEDV	KFVINYDYPN
430	440	450	460	470	480
SSEDYIHRIG	RTARSTKTGT	AYTFFTPNNI	KQVSDLISVL	REANQAINPK	LLQLVEDRGS
490	500	510	520	530	540
GRSRGRGGMK	DDRRDRYSAG	KRGGFNTFRD	RENYDRGYSS	LLKRDFGAKT	QNGVYSAANY
550	560	570	580	590	600
TNGSFGSNFV	SAGIQTSFRT	GNPTGTYQNG	YDSTQQYGSN	VPNMHNGMNQ	QAYAYPATAA
610
APMIGYPMPT	GYSQ