AiPD: Autoinhibited Protein Database

O43143

Gene name	DHX15
Protein name	ATP-dependent RNA helicase DHX15
Names	ATP-dependent RNA helicase #46, DEAH box protein 15, Splicing factor Prp43, hPrp43
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1665
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)

1-52 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-52 (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 O43143

Entry ID	Method	Resolution	Chain	Position	Source
5XDR	X-ray	200 A	A	110-795	PDB
6ID1	EM	286 A	V	1-795	PDB
6SH6	X-ray	185 A	A	113-795	PDB
6SH7	X-ray	221 A	A	113-795	PDB
8EJM	X-ray	180 A	A	113-795	PDB
AF-O43143-F1	Predicted				AlphaFoldDB

240 variants for O43143

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1371455565 CA356528836	5	H>Y		No	ClinGen TOPMed gnomAD
CA356528825 rs1327912926	6	R>L		No	ClinGen TOPMed gnomAD
rs1046578605 CA93584507	6	R>W		No	ClinGen Ensembl
CA356528822 rs1352845434	7	L>S		No	ClinGen gnomAD
rs1415355642 CA356528810	8	D>E		No	ClinGen TOPMed
rs1041029806 CA93584505	12	D>N		No	ClinGen TOPMed
CA2876163 rs768447101	14	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2876162 rs768447101	14	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2876161 rs138089413	16	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1257252856 CA356528747	18	K>R		No	ClinGen TOPMed
CA2876159 rs749871607	19	R>G		No	ClinGen ExAC TOPMed gnomAD
CA356528734 rs1196057736	20	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1456792527 CA356528729	21	G>E		No	ClinGen TOPMed gnomAD
rs1456792527 CA356528728	21	G>V		No	ClinGen TOPMed gnomAD
rs537434037 CA2876158	22	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA356528716 rs751230183	23	D>E		No	ClinGen ExAC gnomAD
rs1233094463 CA356528714	24	G>R		No	ClinGen gnomAD
TCGA novel	24	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1160473913 CA356528692	25	K>R		No	ClinGen gnomAD
CA356528687 rs1415049078	26	D>Y		No	ClinGen gnomAD
CA2876142 rs745840042	27	R>G		No	ClinGen ExAC gnomAD
TCGA novel	27	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780510837 CA93576168	29	R>L		No	ClinGen ExAC gnomAD
CA2876141 rs780510837	29	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1261037858 CA356528655	31	R>Q		No	ClinGen gnomAD
CA2876140 rs368980504	31	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs924120935 COSM3780269 CA93576164	33	R>C	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA93576146 rs982254847	33	R>H		No	ClinGen TOPMed gnomAD
CA356528625 rs751138616	36	R>G		No	ClinGen ExAC TOPMed gnomAD
rs751138616 CA2876139	36	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2876138 rs777394319	37	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758092865 CA2876137	38	K>E		No	ClinGen ExAC gnomAD
rs868164768 CA93576131	40	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356528601 rs868164768	40	R>G		No	ClinGen gnomAD
CA356528600 rs1451153258	40	R>Q		No	ClinGen gnomAD
rs1362756311 CA356528589	42	R>G		No	ClinGen gnomAD
rs1024079640 CA93576115	42	R>Q		No	ClinGen TOPMed gnomAD
rs1289765504 CA356528575	44	R>C		No	ClinGen gnomAD
rs145564625 CA2876134	44	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA93576102 rs958445696	48	D>G		No	ClinGen Ensembl
CA2876133 rs372384051	49	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	51	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768970623 CA2876127	53	R>G		No	ClinGen ExAC gnomAD
rs763300420 CA356528516	53	R>K		No	ClinGen ExAC TOPMed gnomAD
rs763300420 CA2876126	53	R>T		No	ClinGen ExAC TOPMed gnomAD
CA93575993 rs1000359760	62	R>L		No	ClinGen Ensembl
rs1419769745 CA356528432	65	T>A		No	ClinGen TOPMed
CA2876122 rs781190036	68	M>V		No	ClinGen ExAC gnomAD
rs1193485393 CA356528398	70	I>V		No	ClinGen TOPMed gnomAD
CA356528389 rs1292610904	71	S>N		No	ClinGen TOPMed
CA356528373 rs1390162445	73	G>E		No	ClinGen Ensembl
CA550664110 rs1225545861	75	P>Q		No	ClinGen gnomAD
rs770834299 CA2876121	76	P>L		No	ClinGen ExAC gnomAD
rs1384320380 CA356528339	79	A>T		No	ClinGen gnomAD
CA356528329 rs1255232634	80	S>C		No	ClinGen gnomAD
CA93575941 rs368453836	81	H>R		No	ClinGen ESP TOPMed
CA356528310 rs1341748575	83	A>G		No	ClinGen TOPMed
CA356528309 rs1341748575	83	A>V		No	ClinGen TOPMed
rs1203662729 CA356528302	84	H>Q		No	ClinGen gnomAD
rs777302857 CA2876119	85	S>T		No	ClinGen ExAC TOPMed gnomAD
rs138831230 CA2876118	86	T>A		No	ClinGen ESP ExAC TOPMed
rs1577351701 CA356528286	87	H>R		No	ClinGen Ensembl
rs1461018105 CA356528264	90	H>Q		No	ClinGen gnomAD
rs1165614564 CA356528268	90	H>Y		No	ClinGen gnomAD
CA93575926 rs544684333	91	S>A		No	ClinGen 1000Genomes gnomAD
rs750819975 CA2876114	92	T>M		No	ClinGen ExAC TOPMed gnomAD
rs756504540 CA2876115	92	T>P		No	ClinGen ExAC
CA356528231 rs1269596308	96	H>Y		No	ClinGen TOPMed gnomAD
rs751649605 CA2876110	98	A>T		No	ClinGen ExAC gnomAD
CA93575865 rs1040563856	98	A>V		No	ClinGen gnomAD
CA356528213 rs1229875146	99	H>Y		No	ClinGen gnomAD
rs944892881 CA93575841	101	T>A		No	ClinGen TOPMed gnomAD
CA2876108 rs190897648	101	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	102	H>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356528193 rs765447766	102	H>L		No	ClinGen ExAC gnomAD
rs765447766 CA2876106	102	H>R		No	ClinGen ExAC gnomAD
COSM1429223 CA356528185 rs1390375046	103	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs770821433 CA2876103	104	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1454887918 CA356528177	105	H>Y		No	ClinGen TOPMed
CA2876101 rs35553489	106	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2876099 rs747730674	107	G>D		No	ClinGen ExAC gnomAD
CA356528166 rs1173986712	107	G>S		No	ClinGen gnomAD
CA2876098 rs754644896	108	H>D		No	ClinGen ExAC gnomAD
CA2876097 rs754644896	108	H>N		No	ClinGen ExAC gnomAD
TCGA novel	109	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746220183 CA2876096	109	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1357723251 CA356528142	111	L>F		No	ClinGen TOPMed
rs758551702 CA2876091	112	P>Q		No	ClinGen ExAC gnomAD
rs575114458 CA2876092	112	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs752779852 CA2876090	113	Q>P		No	ClinGen ExAC gnomAD
CA356528131 rs752779852	113	Q>R		No	ClinGen ExAC gnomAD
CA356528124 rs1278363940	114	C>Y		No	ClinGen gnomAD
rs1238878045 CA356528118	115	I>V		No	ClinGen gnomAD
rs760545415 CA2876085	120	N>S		No	ClinGen ExAC gnomAD
CA2876086 rs766179570	120	N>Y		No	ClinGen ExAC gnomAD
CA2876083 rs772062371	123	H>R		No	ClinGen ExAC gnomAD
rs1241460170 CA356528057	124	T>A		No	ClinGen TOPMed
rs940594772 COSM1054610 CA93575691	126	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA2876082 rs747679250	128	Y>C		No	ClinGen ExAC gnomAD
rs1214312329 CA356528004	132	K>T		No	ClinGen TOPMed
rs1470445595 CA356527955	139	V>A		No	ClinGen gnomAD
CA356527887 rs1420442314	148	D>G		No	ClinGen TOPMed
CA356527880 rs1577351579	149	I>T		No	ClinGen Ensembl
rs748916822 COSM131320 CA2876079	149	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs375463036 CA93571543	175	V>E		No	ClinGen ESP TOPMed
CA2876059 rs769631389	179	R>G		No	ClinGen ExAC
CA356526721 rs1333526601	179	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1273200342 CA356526714	180	S>L		No	ClinGen gnomAD
rs747358035 CA2876058	182	P>T		No	ClinGen ExAC gnomAD
rs778326922 CA2876057	183	G>E		No	ClinGen ExAC gnomAD
CA356526695 rs1269209546	184	P>A		No	ClinGen gnomAD
rs1480385370 CA356526691	184	P>L		No	ClinGen TOPMed
TCGA novel	185	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2876053 rs755015700	198	A>G		No	ClinGen ExAC gnomAD
CA356526582 rs1577349067	200	S>R		No	ClinGen Ensembl
TCGA novel	212	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2876052 rs754012951	220	S>A		No	ClinGen ExAC gnomAD
rs1257607060 CA356526285	227	S>C		No	ClinGen TOPMed gnomAD
TCGA novel	233	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2876027 rs763919358	236	M>V		No	ClinGen ExAC gnomAD
rs369771194 COSM1429221 CA2876025	247	N>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	252	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2876024 rs376738708	253	R>C		No	ClinGen ESP ExAC gnomAD
rs772864640 CA93562662	253	R>H		No	ClinGen gnomAD
TCGA novel	257	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA93562633 rs111467044	275	V>A		No	ClinGen Ensembl
TCGA novel	281	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs532046223 CA2876018	287	K>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	303	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745928543 CA2875995	306	N>K		No	ClinGen ExAC gnomAD
CA2875996 rs770345290	306	N>S		No	ClinGen ExAC gnomAD
rs1437825854 CA356518356	312	I>V		No	ClinGen gnomAD
TCGA novel	320	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356517895 rs1332212790	321	I>V		No	ClinGen gnomAD
TCGA novel	328	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	333	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747281357 CA2875992	337	R>G		No	ClinGen ExAC gnomAD
rs771994072 CA2875990	340	I>T		No	ClinGen ExAC gnomAD
rs777377397 CA2875991	340	I>V		No	ClinGen ExAC gnomAD
CA356517308 rs1292196454	341	Q>H		No	ClinGen gnomAD
TCGA novel	345	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414879548 CA356517151	347	E>V		No	ClinGen gnomAD
TCGA novel	348	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1209367338 CA356517117	349	E>K		No	ClinGen gnomAD
TCGA novel	352	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	358	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	359	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356516085 rs1370840441	365	A>V		No	ClinGen gnomAD
CA356516050 rs1309456759	370	K>R		No	ClinGen gnomAD
rs1432700145 CA356516044	371	R>C		No	ClinGen gnomAD
rs780801909 CA2875964	371	R>H		No	ClinGen ExAC TOPMed gnomAD
CA93558292 rs372158011	383	I>V		No	ClinGen ESP
CA356515942 rs1362086614	386	I>V		No	ClinGen gnomAD
CA356515851 rs1184535111	399	R>C		No	ClinGen TOPMed gnomAD
rs754378482 CA2875959	399	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760792099 CA2875957	403	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1201563394 CA356515823	403	P>R		No	ClinGen gnomAD
CA2875958 rs760792099	403	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	409	Q>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141711683 CA2875955	410	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	421	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	454	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764951836 CA2875915	461	I>V		No	ClinGen ExAC gnomAD
TCGA novel	462	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	487	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1577335340 CA356513470	490	Y>*		No	ClinGen Ensembl
TCGA novel	498	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	504	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199863119 CA2875874	556	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1577334590 CA356512080	571	L>I		No	ClinGen Ensembl
CA2875869 rs147661530	574	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs970699878 CA93554451	575	V>A		No	ClinGen Ensembl
CA356512036 rs1479561229	577	A>G		No	ClinGen TOPMed
rs1362494235 CA356511878	587	V>G		No	ClinGen gnomAD
CA356511883 rs1226605814	587	V>I		No	ClinGen gnomAD
CA2875867 rs372466605	588	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1040977788 CA93554437	590	I>V		No	ClinGen TOPMed
rs1436729045 CA356511857	591	T>S		No	ClinGen gnomAD
rs762625353 CA2875844	601	V>I		No	ClinGen ExAC gnomAD
TCGA novel	601	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356511466 rs1560761618	602	R>H		No	ClinGen Ensembl
rs775274940 CA2875843	604	T>M		No	ClinGen ExAC gnomAD
TCGA novel	607	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376965048 CA356511417	609	A>V		No	ClinGen gnomAD
rs867677337 CA93553309	624	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2875840 rs555597490	625	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2875838 rs535377897	634	F>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	639	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	642	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA93596895 rs979309172	645	Y>F		No	ClinGen TOPMed
TCGA novel	647	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446805767 CA356523304	650	N>S		No	ClinGen gnomAD
CA356523257 rs1217241184	653	S>F		No	ClinGen TOPMed
CA356523229 rs1488903517	655	M>I		No	ClinGen TOPMed
rs891066016 CA93596885	659	N>S		No	ClinGen TOPMed gnomAD
rs1224534265 CA356523047	669	D>G		No	ClinGen gnomAD
TCGA novel	670	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356522969 rs1273846427	676	R>Q		No	ClinGen gnomAD
rs1167016564 CA356522933	681	T>I		No	ClinGen TOPMed gnomAD
rs1185144261 CA356522865	687	I>V		No	ClinGen gnomAD
TCGA novel	687	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	690	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	691	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	692	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA93596838 rs1038093761	695	T>A		No	ClinGen gnomAD
rs1342070899 CA356522733	697	Y>C		No	ClinGen TOPMed
TCGA novel	702	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA93593964 rs951918255	704	L>I		No	ClinGen Ensembl
rs541107353 CA356521749	710	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA356521706 rs1450104931	716	N>K		No	ClinGen gnomAD
CA356521645 rs1287948059	725	T>N		No	ClinGen gnomAD
CA356521640 rs1293679460	726	V>A		No	ClinGen TOPMed
CA93593914 rs113857979	730	K>R		No	ClinGen Ensembl
CA356521601 rs1301633200	732	E>K		No	ClinGen gnomAD
rs779461717 CA2875759	734	V>A		No	ClinGen ExAC gnomAD
TCGA novel	743	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	745	N>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287272303 CA356521445	754	K>R		No	ClinGen TOPMed
CA93592389 rs112280835	759	V>A		No	ClinGen Ensembl
CA93592381 rs972514573	760	K>R		No	ClinGen TOPMed
rs868218455 CA93592361	766	Y>H		No	ClinGen Ensembl
TCGA novel	767	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749722262 CA93592318	768	M>V		No	ClinGen Ensembl
rs1289105764 CA356520450	769	S>G		No	ClinGen gnomAD
CA2875740 rs370160024	770	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1406413912 CA356520305	776	A>T		No	ClinGen TOPMed
COSM481172 CA93592280 rs1007926324	777	K>R	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	778	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1445002356 CA356520228	779	Q>L		No	ClinGen gnomAD
CA2875737 rs377051074	782	R>C		No	ClinGen ESP ExAC TOPMed
CA2875736 rs150434662	782	R>H		No	ClinGen ESP ExAC gnomAD
CA93592263 rs150434662	782	R>P		No	ClinGen ESP ExAC gnomAD
CA2875734 rs755452081	785	A>V		No	ClinGen ExAC TOPMed gnomAD
rs13772 CA2875731	789	S>F		No	ClinGen ExAC gnomAD
rs750583373 CA2875730	790	K>R		No	ClinGen ExAC gnomAD
CA356520025 rs1355226585	791	E>D		No	ClinGen TOPMed
TCGA novel	791	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226769527 CA356519979	793	S>A		No	ClinGen TOPMed gnomAD
rs767818074 CA2875728	794	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA356519904 rs1295719352	795	Y>*		No	ClinGen gnomAD

No associated diseases with O43143

7 regional properties for O43143

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	338 - 518	IPR001650
conserved_site	DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site	255 - 264	IPR002464
domain	Helicase-associated domain	538 - 628	IPR007502
domain	DEAD/DEAH box helicase domain	149 - 296	IPR011545
domain	DEAD-box helicase, OB fold	689 - 765	IPR011709
domain	Helicase superfamily 1/2, ATP-binding domain	135 - 322	IPR014001
domain	DHX15, DEXH-box helicase domain	125 - 312	IPR044756

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus Nucleus, nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
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.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.
U12-type spliceosomal complex	Any spliceosomal complex that forms during the splicing of a messenger RNA primary transcript to excise an intron; the series of U12-type spliceosomal complexes is involved in the splicing of the majority of introns that contain atypical AT-AC terminal dinucleotides, as well as other non-canonical introns. The entire splice site signal, not just the terminal dinucleotides, is involved in determining which spliceosome utilizes the site.

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.
double-stranded RNA binding	Binding to double-stranded RNA.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA helicase activity	Unwinding of an RNA helix, driven by ATP hydrolysis.

8 GO annotations of biological process

Name	Definition
antiviral innate immune response	A defense response against viruses mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens.
defense response to bacterium	Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
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.
positive regulation of I-kappaB kinase/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
response to alkaloid	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 an alkaloid stimulus. Alkaloids are a large group of nitrogenous substances found in naturally in plants, many of which have extracts that are pharmacologically active.
response to toxic substance	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 toxic stimulus.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43329	hrpA	ATP-dependent RNA helicase HrpA	Escherichia coli (strain K12)	PR
Q8IY37	DHX37	Probable ATP-dependent RNA helicase DHX37	Homo sapiens (Human)	PR
O60231	DHX16	Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16	Homo sapiens (Human)	PR
Q8IX18	DHX40	Probable ATP-dependent RNA helicase DHX40	Homo sapiens (Human)	PR
Q6P158	DHX57	Putative ATP-dependent RNA helicase DHX57	Homo sapiens (Human)	PR
Q7L7V1	DHX32	Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32	Homo sapiens (Human)	PR
Q9H2U1	DHX36	ATP-dependent DNA/RNA helicase DHX36	Homo sapiens (Human)	PR
Q92620	DHX38	Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16	Homo sapiens (Human)	PR

10	20	30	40	50	60
MSKRHRLDLG	EDYPSGKKRA	GTDGKDRDRD	RDREDRSKDR	DRERDRGDRE	REREKEKEKE
70	80	90	100	110	120
LRASTNAMLI	SAGLPPLKAS	HSAHSTHSAH	STHSTHSAHS	THAGHAGHTS	LPQCINPFTN
130	140	150	160	170	180
LPHTPRYYDI	LKKRLQLPVW	EYKDRFTDIL	VRHQSFVLVG	ETGSGKTTQI	PQWCVEYMRS
190	200	210	220	230	240
LPGPKRGVAC	TQPRRVAAMS	VAQRVADEMD	VMLGQEVGYS	IRFEDCSSAK	TILKYMTDGM
250	260	270	280	290	300
LLREAMNDPL	LERYGVIILD	EAHERTLATD	ILMGVLKEVV	RQRSDLKVIV	MSATLDAGKF
310	320	330	340	350	360
QIYFDNCPLL	TIPGRTHPVE	IFYTPEPERD	YLEAAIRTVI	QIHMCEEEEG	DLLLFLTGQE
370	380	390	400	410	420
EIDEACKRIK	REVDDLGPEV	GDIKIIPLYS	TLPPQQQQRI	FEPPPPKKQN	GAIGRKVVVS
430	440	450	460	470	480
TNIAETSLTI	DGVVFVIDPG	FAKQKVYNPR	IRVESLLVTA	ISKASAQQRA	GRAGRTRPGK
490	500	510	520	530	540
CFRLYTEKAY	KTEMQDNTYP	EILRSNLGSV	VLQLKKLGID	DLVHFDFMDP	PAPETLMRAL
550	560	570	580	590	600
ELLNYLAALN	DDGDLTELGS	MMAEFPLDPQ	LAKMVIASCD	YNCSNEVLSI	TAMLSVPQCF
610	620	630	640	650	660
VRPTEAKKAA	DEAKMRFAHI	DGDHLTLLNV	YHAFKQNHES	VQWCYDNFIN	YRSLMSADNV
670	680	690	700	710	720
RQQLSRIMDR	FNLPRRSTDF	TSRDYYINIR	KALVTGYFMQ	VAHLERTGHY	LTVKDNQVVQ
730	740	750	760	770	780
LHPSTVLDHK	PEWVLYNEFV	LTTKNYIRTC	TDIKPEWLVK	IAPQYYDMSN	FPQCEAKRQL
790
DRIIAKLQSK	EYSQY