AiPD: Autoinhibited Protein Database

Q7L014

Gene name	DDX46 (KIAA0801)
Protein name	Probable ATP-dependent RNA helicase DDX46
Names	DEAD box protein 46, PRP5 homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9879
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)

1-143 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-143 (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

7 structures for Q7L014

Entry ID	Method	Resolution	Chain	Position	Source
6Y50	EM	410 A	p	1-1031	PDB
6Y53	EM	710 A	p	1-1031	PDB
6Y5Q	EM	710 A	p	1-1031	PDB
7EVO	EM	250 A	E	1-1031	PDB
7Q3L	EM	230 A	p	1-1031	PDB
7VPX	EM	300 A	E	1-1031	PDB
AF-Q7L014-F1	Predicted				AlphaFoldDB

360 variants for Q7L014

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3415891 rs762352422	7	H>R		No	ClinGen ExAC gnomAD
CA361010980 rs1431989985	9	R>*		No	ClinGen TOPMed gnomAD
CA361010981 rs1214717245	9	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	11	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179453765 CA361010994	11	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs750947663 CA3415893	12	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1461790480 CA361011015	15	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3415896 rs183712927	15	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755212144 CA3415897	16	G>V		No	ClinGen ExAC gnomAD
CA3415898 rs779044269	17	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM3696913 rs748215709 CA3415899	17	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA127999226 rs903392825	18	S>F		No	ClinGen TOPMed
CA361011047 rs1336428469	21	R>G		No	ClinGen gnomAD
CA3415900 rs200919517	21	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1336428469 CA361011046	21	R>W		No	ClinGen gnomAD
rs1286708100 CA361011348	25	R>C		No	ClinGen TOPMed gnomAD
CA3415901 rs777815031	25	R>H		No	ClinGen ExAC gnomAD
CA3415902 rs775562976	27	P>S		No	ClinGen ExAC TOPMed gnomAD
CA361011374 rs1325235182	29	D>E		No	ClinGen TOPMed
CA127999251 rs760751038	34	R>C		No	ClinGen gnomAD
rs770792465 CA3415903	36	D>E		No	ClinGen ExAC gnomAD
CA361011421 rs1175662995	36	D>G		No	ClinGen gnomAD
CA127999252 rs1055127479	36	D>N		No	ClinGen TOPMed gnomAD
rs148583666 CA127999257	37	D>V		No	ClinGen ESP TOPMed
CA361011441 rs1419364786	39	R>P		No	ClinGen TOPMed gnomAD
COSM1060928 rs1419364786 CA361011439	39	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
COSM1060927 rs373945758 CA3415905	39	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	42	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361011473 rs769375039	44	D>A		No	ClinGen ExAC gnomAD
rs775046354 CA3415907	44	D>E		No	ClinGen ExAC gnomAD
CA3415906 rs769375039	44	D>G		No	ClinGen ExAC gnomAD
CA361011493 rs1366509574	47	R>K		No	ClinGen gnomAD
rs1411988311 CA361011500	48	R>K		No	ClinGen TOPMed
CA361011507 rs1159682084	49	R>T		No	ClinGen TOPMed
CA3415909 rs763623375	53	R>C		No	ClinGen ExAC gnomAD
rs1395621464 CA361011535	53	R>H		No	ClinGen gnomAD
CA361011541 rs1477967246	54	S>N		No	ClinGen TOPMed
rs773638519 COSM1060929 CA3415910	61	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361011597 rs1201523618	62	S>L		No	ClinGen TOPMed
COSM77572 rs1357446188 CA361011619	65	R>S	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs766715661 CA3415912	67	R>C		No	ClinGen ExAC TOPMed gnomAD
rs367926830 CA3415913	67	R>H	Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs199583321 CA128001741	70	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361011683 rs1414544034	74	R>G		No	ClinGen TOPMed
rs1050668287 CA128001765	75	E>G		No	ClinGen TOPMed
rs752804374 CA3415935	76	R>K		No	ClinGen ExAC gnomAD
CA3415937 rs377136532	77	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1415133930 CA361011706	77	D>G		No	ClinGen TOPMed
CA128001766 rs887641421	77	D>H		No	ClinGen TOPMed
CA361011703 rs887641421	77	D>Y		No	ClinGen TOPMed
CA361011724 rs1580771620	79	S>N		No	ClinGen Ensembl
CA361011735 rs759838219	80	R>G		No	ClinGen TOPMed
rs1187045828 CA361011765	82	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	83	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1022324740 CA128001793	84	R>S		No	ClinGen TOPMed
CA3415939 rs757241146	85	S>F		No	ClinGen ExAC gnomAD
CA3415940 rs188688500 COSM280341	86	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1395573898 CA361011834	88	R>G		No	ClinGen gnomAD
rs200614632 CA3415941	88	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1175514105 CA361011846	89	D>N		No	ClinGen gnomAD
CA361011892 rs1455590455	92	R>C		No	ClinGen gnomAD
CA3415942 rs755796391	94	R>S		No	ClinGen ExAC gnomAD
rs748924841 CA3415944	98	R>Q		No	ClinGen ExAC gnomAD
CA3415943 rs779907408	98	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3415946 rs778362209	100	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3415945 rs768363770	100	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747704049 CA3415947	101	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs548943347 CA128001844	103	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3415948 COSM1433193 rs548943347	103	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1399704113 CA361012022	106	S>G		No	ClinGen Ensembl
CA128001857 rs142080539	109	N>S		No	ClinGen ESP
rs151136989 CA3415952	111	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs763241287 CA3415953	111	S>R		No	ClinGen ExAC TOPMed gnomAD
rs376876752 CA3415951	111	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1449084237 CA361012128	114	T>A		No	ClinGen TOPMed
CA361012137 rs1335380655	114	T>I		No	ClinGen TOPMed
CA3415955 rs751855521	115	E>G		No	ClinGen ExAC gnomAD
CA128001883 rs765337674	116	N>T		No	ClinGen Ensembl
rs1407644670 CA361012710	117	R>S		No	ClinGen TOPMed gnomAD
rs765031559 CA3415983	119	R>S		No	ClinGen ExAC gnomAD
rs1226348178 CA361012729	120	S>F		No	ClinGen gnomAD
CA361012739 rs1392009613	122	E>Q		No	ClinGen TOPMed
CA128004730 rs374882583	124	T>N		No	ClinGen gnomAD
rs1026837626 CA128004740	125	D>Y		No	ClinGen Ensembl
rs1375582646 CA361012772	127	G>R		No	ClinGen TOPMed gnomAD
rs1375582646 CA361012774	127	G>W		No	ClinGen TOPMed gnomAD
rs758137545 CA3415986	129	S>G		No	ClinGen ExAC gnomAD
CA361012789 rs1251248329	129	S>T		No	ClinGen gnomAD
rs777119748 CA3415987	130	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1190340316 CA361012799	131	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746581978 CA3415988	131	K>T		No	ClinGen ExAC
rs983135530 CA128004789	133	K>T		No	ClinGen Ensembl
CA128004794 rs755680596	138	D>E		No	ClinGen gnomAD
CA3415990 rs780669681	143	E>D		No	ClinGen ExAC gnomAD
rs1455368044 CA361012906	145	E>K		No	ClinGen TOPMed
CA3415991 rs749814695	146	K>T		No	ClinGen ExAC gnomAD
CA361013093 rs1255695568	150	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs376220576 CA361013135	153	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361013216 rs1367770971	160	M>T		No	ClinGen TOPMed
CA361013359 rs1474377800	171	R>Q		No	ClinGen TOPMed gnomAD
rs1359221153 CA361013368	172	E>Q		No	ClinGen TOPMed
rs752957140 CA3416022	175	R>C		No	ClinGen ExAC TOPMed gnomAD
rs748594950 CA3416023	177	K>N		No	ClinGen ExAC gnomAD
CA361013452 rs1420711615	179	M>V		No	ClinGen TOPMed
rs756456760 CA128007161	182	I>V		No	ClinGen Ensembl
rs1208545606 CA361013506	185	L>P		No	ClinGen gnomAD
rs747210353 CA361013558	189	I>N		No	ClinGen ExAC gnomAD
rs747210353 CA3416026	189	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361013570 rs1376587754	190	E>Q		No	ClinGen gnomAD
rs1476715975 CA563059228	191	E>I		No	ClinGen gnomAD
rs1308495329 CA361013591	191	E>V		No	ClinGen Ensembl
rs1412188914 CA361013610	192	M>I		No	ClinGen gnomAD
rs776758841 CA3416028	192	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	197	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs10447293 CA128010364 VAR_028079	207	E>Q		No	ClinGen UniProt Ensembl dbSNP
TCGA novel	218	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	219	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286611114 CA361014603	220	M>V		No	ClinGen gnomAD
CA3416054 rs768481059	221	E>D		No	ClinGen ExAC gnomAD
CA361014638 rs1276963645	222	G>D		No	ClinGen TOPMed
TCGA novel	227	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1354912815 CA361014748	231	Y>H		No	ClinGen gnomAD
rs1339917342 CA361014762	232	M>V		No	ClinGen TOPMed
rs1198073075 CA361014795	234	E>Q		No	ClinGen TOPMed gnomAD
CA3416056 rs373276825	235	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	240	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	242	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179578336 CA361014925	243	N>S		No	ClinGen gnomAD
CA3416058 rs146961252	244	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1259133862 CA361014942	244	M>T		No	ClinGen gnomAD
rs760221259 CA3416059	250	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361015016 rs1186623966	250	G>S		No	ClinGen gnomAD
CA361015026 CA128010476 rs891800514	251	G>R		No	ClinGen TOPMed gnomAD
CA128010483 rs1010410715	253	N>D		No	ClinGen Ensembl
rs765810321 CA3416060	254	E>G		No	ClinGen ExAC gnomAD
rs1302838899 CA361015375	259	P>L		No	ClinGen gnomAD
rs1302838899 CA361015374	259	P>R		No	ClinGen gnomAD
rs767887169 CA3416084	260	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3416085 rs542707059	260	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1253843587 CA361015390	261	V>A		No	ClinGen gnomAD
CA361015385 rs1372363409	261	V>L		No	ClinGen gnomAD
CA361015433 rs1301317672	266	T>A		No	ClinGen gnomAD
CA361015447 rs1209174062	267	V>I		No	ClinGen TOPMed gnomAD
rs1209174062 CA361015443	267	V>L		No	ClinGen TOPMed gnomAD
rs142169100 CA3416087	269	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs780147260 CA3416088	270	T>I		No	ClinGen ExAC gnomAD
rs145943101 CA3416090	272	K>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	273	A>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3416091 rs778673806	275	V>A		No	ClinGen ExAC gnomAD
CA361015585 rs1580787143	278	D>A		No	ClinGen Ensembl
CA361015580 rs1262745799	278	D>N		No	ClinGen gnomAD
CA361015610 rs1471512468	280	K>E		No	ClinGen TOPMed
TCGA novel	288	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410071195 CA361015861	298	E>K		No	ClinGen gnomAD
TCGA novel	300	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	304	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361015909 rs1287249545	304	Q>R		No	ClinGen gnomAD
TCGA novel	305	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348437854 CA361015916	305	T>I		No	ClinGen gnomAD
rs370456919 CA361015958	311	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1290305758 CA361015956	311	Q>L		No	ClinGen gnomAD
rs746734262 CA3416112	315	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361015983 rs1289695247	315	R>Q		No	ClinGen TOPMed gnomAD
CA361015996 rs1484037409	317	L>V		No	ClinGen gnomAD
CA3416113 rs770792046	320	P>S		No	ClinGen ExAC gnomAD
rs1468776454 CA361016020	321	V>A		No	ClinGen gnomAD
CA3416114 rs780645597	321	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3416115 rs780645597	321	V>L		No	ClinGen ExAC TOPMed gnomAD
CA361016035 rs1414971932	323	H>L		No	ClinGen gnomAD
CA3416117 rs775052052	324	G>A		No	ClinGen ExAC gnomAD
rs1371876203 CA361016047	325	K>R		No	ClinGen gnomAD
TCGA novel	325	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361016077 rs1201070468	329	E>A		No	ClinGen TOPMed
rs374693411 CA128014571	329	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361016079 rs1201070468	329	E>V		No	ClinGen TOPMed
rs1368375529 CA361016085	330	P>L		No	ClinGen gnomAD
COSM1060936 rs760905547 CA3416121	335	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3416122 rs572039261	337	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361016175 rs1299677454	343	A>V		No	ClinGen gnomAD
rs1344435290 CA361016186	345	M>V		No	ClinGen gnomAD
rs1206015809 CA361016199	346	S>F		No	ClinGen gnomAD
rs773523259 CA3416137	350	V>A		No	ClinGen ExAC gnomAD
CA3416136 rs768183766	350	V>I		No	ClinGen ExAC gnomAD
CA361016928 rs1410539915	351	N>H		No	ClinGen TOPMed
rs1364994147 CA361017054 COSM1203267	354	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1465802262 CA361017125	357	M>T		No	ClinGen gnomAD
CA361017158 rs1228089143	359	G>S		No	ClinGen gnomAD
rs1301220464 CA361017175	360	I>V		No	ClinGen TOPMed
rs1426409437 CA361017198	361	T>I		No	ClinGen TOPMed
CA3416139 rs771185948	366	G>V		No	ClinGen ExAC gnomAD
rs759655720 CA128015494	369	K>R		No	ClinGen ExAC TOPMed gnomAD
rs759655720 CA3416141	369	K>T		No	ClinGen ExAC TOPMed gnomAD
rs542504484 CA3416142	371	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1027994261 CA128015511	372	K>*		No	ClinGen Ensembl
rs1467872618 CA361017465	372	K>N		No	ClinGen gnomAD
CA3416143 rs775887965	381	M>L		No	ClinGen ExAC
CA3416144 rs763062384	382	K>N		No	ClinGen ExAC gnomAD
CA128015541 rs953939018	384	L>*		No	ClinGen gnomAD
CA361017688 rs953939018	384	L>S		No	ClinGen gnomAD
rs1434300018 CA361017711	387	L>V		No	ClinGen gnomAD
rs764284895 CA361017722	388	K>N		No	ClinGen ExAC TOPMed gnomAD
CA361017882 rs764268624	390	H>Q		No	ClinGen ExAC gnomAD
rs761629769 CA3416167	395	P>H		No	ClinGen ExAC gnomAD
TCGA novel	396	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3416171 rs766173349	404	P>S		No	ClinGen ExAC gnomAD
rs199725858 CA3416172	406	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	418	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369977559 CA361019014	430	M>V		No	ClinGen gnomAD
CA128017295 rs557730564	435	M>V		No	ClinGen TOPMed gnomAD
CA361019473 rs1368412854	447	I>M		No	ClinGen gnomAD
rs1409417216 CA361019702	449	V>I		No	ClinGen gnomAD
CA361019719 rs1439394564	450	I>V		No	ClinGen TOPMed
rs367646357 CA3416195	454	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs757869608 CA3416196	460	Q>*		No	ClinGen ExAC
TCGA novel	464	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361020115 rs1231255113	468	F>L		No	ClinGen gnomAD
CA361020136 rs1274600283	469	S>F		No	ClinGen TOPMed
CA3416198 rs750964935	470	K>R		No	ClinGen ExAC gnomAD
rs756728755 CA3416199	472	L>S		No	ClinGen ExAC gnomAD
CA361020234 rs1233366503	475	R>K		No	ClinGen TOPMed
rs773009887 CA128020992	490	A>T		No	ClinGen Ensembl
CA3416218 rs763631474	493	K>R		No	ClinGen ExAC gnomAD
CA3416220 rs756853617	495	G>V		No	ClinGen ExAC gnomAD
rs867635113 CA128021010	505	R>*		No	ClinGen Ensembl
rs1014655112 CA128021012	506	M>I		No	ClinGen Ensembl
TCGA novel	506	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1285633196 CA361022226	509	M>V		No	ClinGen TOPMed
rs1280224561 CA361022314	512	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3416248 rs777904233	516	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1310070792 CA361022986	519	N>D		No	ClinGen gnomAD
rs1479835187 CA361022997	519	N>S		No	ClinGen gnomAD
CA361023045 rs1243349156	521	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3416251 rs781314445	521	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	526	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749265943 CA3416272	543	V>I		No	ClinGen ExAC gnomAD
TCGA novel	545	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1060939 CA3416273 rs768561792	545	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3416275 rs771269708	547	V>M		No	ClinGen ExAC TOPMed gnomAD
rs760064317 CA3416278	550	V>G		No	ClinGen ExAC gnomAD
rs142187481 CA3416277	550	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3416279 rs770487563	551	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3416280 rs775846714	552	P>R		No	ClinGen ExAC gnomAD
rs1345521101 CA361014093	554	R>Q		No	ClinGen gnomAD
CA361014109 rs1202348931	556	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3416282 rs764408995	557	V>I		No	ClinGen ExAC gnomAD
CA127983561 rs997691328	559	F>V		No	ClinGen TOPMed
CA3416283 rs751966835	566	A>S		No	ClinGen ExAC
rs1318391540 CA361014179	567	M>T		No	ClinGen gnomAD
rs202100525 CA3416284	572	R>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	573	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3416286 rs750658196	579	I>T		No	ClinGen ExAC gnomAD
CA361014259 rs1478810605	579	I>V		No	ClinGen gnomAD
CA3416287 rs756094031	582	Q>E		No	ClinGen ExAC gnomAD
rs368877890 CA127983612	591	S>P		No	ClinGen ESP TOPMed gnomAD
rs1317804504 CA361014361	594	E>G		No	ClinGen gnomAD
TCGA novel	594	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs896571981 CA127983613	597	V>M		No	ClinGen Ensembl
CA361014415 rs1179007585	599	V>L		No	ClinGen TOPMed
rs1246138004 CA361014501	604	K>E		No	ClinGen TOPMed gnomAD
CA361014514 COSM204384 rs1394383770	604	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs755327824 CA3416310 COSM481949	606	F>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3416314 rs376188295 COSM735657	618	E>Q	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA127984479 rs1010822975	624	I>M		No	ClinGen TOPMed
rs769294320 CA3416316	634	G>V		No	ClinGen ExAC gnomAD
rs1041246584 CA127984499	643	S>C		No	ClinGen Ensembl
CA361015141 rs1580801177	649	L>F		No	ClinGen Ensembl
CA361016498 rs1580810771	659	D>G		No	ClinGen Ensembl
CA3416351 rs765376445	660	S>N		No	ClinGen ExAC gnomAD
rs775759424 CA3416352	663	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3416353 rs762962631	667	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3416354 rs374070412	668	G>E		No	ClinGen ESP ExAC gnomAD
rs761606830 CA3416356	676	T>N		No	ClinGen ExAC gnomAD
rs1365874991 CA361017029	687	H>R		No	ClinGen gnomAD
rs367928985 CA127993178	687	H>Y		No	ClinGen ESP
CA3416357 rs371356096	690	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3416360 rs779519372	704	V>I		No	ClinGen ExAC
CA127993217 rs895220077	706	R>K		No	ClinGen TOPMed
rs867986546 CA127993223 COSM1060943	709	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA361018416 rs1274112927	723	I>V		No	ClinGen TOPMed gnomAD
CA3416382 rs754452422	725	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1169559188 CA361018451	725	E>V		No	ClinGen gnomAD
rs1348868263 CA361018463	726	D>G		No	ClinGen gnomAD
CA3416383 rs778346373	726	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	729	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202463050 CA361018500	729	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA127995604 rs754090859 COSM1661424	730	Y>C	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3416384 rs754090859	730	Y>S		No	ClinGen ExAC gnomAD
CA361018517 rs150067181	731	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3416385 rs150067181	731	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361018551 rs1282491470	734	I>V		No	ClinGen gnomAD
CA361018560 rs746193142	735	I>L		No	ClinGen ExAC gnomAD
CA3416387 rs746193142	735	I>V		No	ClinGen ExAC gnomAD
rs770283644 CA3416388	738	L>F		No	ClinGen ExAC gnomAD
rs1316396442 CA361018660	742	G>W		No	ClinGen gnomAD
rs1308322560 CA361018697	745	V>I		No	ClinGen TOPMed
rs868154054 CA127995663	746	P>L		No	ClinGen Ensembl
CA361018779 rs1276201686	750	E>D		No	ClinGen gnomAD
rs1207483026 CA361018872	756	F>I		No	ClinGen gnomAD
rs761720762 CA3416393	759	Q>H		No	ClinGen ExAC gnomAD
rs1160179813 CA361019224	765	K>N		No	ClinGen TOPMed gnomAD
CA3416412 rs772145837	768	K>E		No	ClinGen ExAC gnomAD
TCGA novel	769	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361019487 rs1401397974	776	K>T		No	ClinGen gnomAD
rs1231732137 CA361019889	799	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	809	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206208502 CA361020117	811	V>I		No	ClinGen TOPMed
TCGA novel	813	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236455078 CA361022101	819	S>N		No	ClinGen gnomAD
rs1446475764 CA361022170	821	F>C		No	ClinGen gnomAD
CA3416449 rs79178476	832	A>G		No	ClinGen ExAC TOPMed gnomAD
CA361022470 rs79178476	832	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1465582464 CA361022482	833	P>A		No	ClinGen gnomAD
rs757362389 CA361022504	835	T>A		No	ClinGen ExAC gnomAD
CA3416452 rs757362389	835	T>S		No	ClinGen ExAC gnomAD
rs1452796902 CA361022554	837	S>G		No	ClinGen gnomAD
CA3416454 rs745872523	838	V>I		No	ClinGen ExAC gnomAD
CA361022569 rs745872523	838	V>L		No	ClinGen ExAC gnomAD
CA361022594 rs1488588928	840	A>P		No	ClinGen TOPMed
CA361022612 rs1561873532	841	P>S		No	ClinGen Ensembl
CA3416455 rs769468728	843	A>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	845	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208776135 CA361022795	851	I>T		No	ClinGen TOPMed
TCGA novel	854	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3416461 rs771628142	862	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	866	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776990995 CA3416462	867	I>V		No	ClinGen ExAC gnomAD
TCGA novel	868	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3416464 rs765557172	869	S>F		No	ClinGen ExAC gnomAD
rs1168956692 CA361023088	869	S>P		No	ClinGen gnomAD
CA361023086 rs1168956692	869	S>T		No	ClinGen gnomAD
CA361023246 rs1304748298	873	M>V		No	ClinGen TOPMed gnomAD
CA3416485 rs201881051	880	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3416484 rs201881051	880	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361023444 rs1414729588	885	T>P		No	ClinGen gnomAD
rs1286818822 CA361023493	888	A>S		No	ClinGen gnomAD
rs1353261977 CA361023519	889	P>L		No	ClinGen gnomAD
TCGA novel	914	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1580818056 CA361023923	919	E>D		No	ClinGen Ensembl
CA361023953 rs1391474940	923	G>S		No	ClinGen TOPMed gnomAD
rs1165044060 CA361024024	929	F>L		No	ClinGen gnomAD
rs1025805382 CA127999867	943	Q>*		No	ClinGen Ensembl
TCGA novel	945	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128000861 rs867777664	965	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1561874400 CA361024820	966	I>V		No	ClinGen Ensembl
TCGA novel	971	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3416515 rs746721373	973	F>L		No	ClinGen ExAC gnomAD
CA361024984 rs1376372512	974	P>L		No	ClinGen TOPMed
rs756754322 CA361024987	975	P>A		No	ClinGen ExAC TOPMed gnomAD
rs756754322 CA3416516	975	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1490032278 CA361025011	976	G>V		No	ClinGen TOPMed
CA361025096 rs1266139652	980	K>R		No	ClinGen gnomAD
TCGA novel	983	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769155594 CA3416519	984	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA128000903 rs751359858	991	E>Q		No	ClinGen Ensembl
CA3416537 rs779420243	994	N>S		No	ClinGen ExAC gnomAD
TCGA novel	995	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128005208 rs78983586	998	V>G		No	ClinGen Ensembl
rs1217027167 CA361026892	1015	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1016	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206482162 CA361027107	1023	T>A		No	ClinGen gnomAD

No associated diseases with Q7L014

18 regional properties for Q7L014

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	580 - 914	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	580 - 905	IPR001245
conserved_site	Tyrosine-protein kinase, receptor class III, conserved site	639 - 652	IPR001824
domain	Immunoglobulin subtype 2	33 - 91	IPR003598-1
domain	Immunoglobulin subtype 2	215 - 285	IPR003598-2
domain	Immunoglobulin subtype	27 - 102	IPR003599-1
domain	Immunoglobulin subtype	112 - 196	IPR003599-2
domain	Immunoglobulin subtype	209 - 296	IPR003599-3
domain	Immunoglobulin subtype	308 - 397	IPR003599-4
domain	Immunoglobulin subtype	402 - 504	IPR003599-5
domain	Immunoglobulin-like domain	21 - 85	IPR007110-1
domain	Immunoglobulin-like domain	104 - 188	IPR007110-2
domain	Immunoglobulin-like domain	203 - 294	IPR007110-3
domain	Immunoglobulin-like domain	400 - 500	IPR007110-4
active_site	Tyrosine-protein kinase, active site	772 - 784	IPR008266
domain	Immunoglobulin	210 - 292	IPR013151
binding_site	Protein kinase, ATP binding site	586 - 614	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	580 - 908	IPR020635

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus speckle Nucleus, Cajal body	Present in Cajal bodies (CBs) and nuclear speckles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
Cajal body	A class of nuclear body, first seen after silver staining by Ramon y Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA.
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
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.
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.
U2 snRNP	A ribonucleoprotein complex that contains small nuclear RNA U2, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U2 snRNP, most of which remain associated with the U2 snRNA both while the U2 snRNP is free or assembled into a series of spliceosomal complexes.

4 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.
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 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.
U2-type prespliceosome assembly	The aggregation, arrangement and bonding together of a set of components to form an U2-type prespliceosome.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P21372	PRP5	Pre-mRNA-processing ATP-dependent RNA helicase PRP5	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	EV
Q9VNP5	BoYb	Putative ATP-dependent RNA helicase BoYb	Drosophila melanogaster (Fruit fly)	PR
Q9VL52	SoYb	Putative ATP-dependent RNA helicase SoYb	Drosophila melanogaster (Fruit fly)	PR
Q9NUL7	DDX28	Probable ATP-dependent RNA helicase DDX28	Homo sapiens (Human)	PR
Q8NHQ9	DDX55	ATP-dependent RNA helicase DDX55	Homo sapiens (Human)	PR
P60842	EIF4A1	Eukaryotic initiation factor 4A-I	Homo sapiens (Human)	PR
Q14240	EIF4A2	Eukaryotic initiation factor 4A-II	Homo sapiens (Human)	PR
Q9Y6V7	DDX49	Probable ATP-dependent RNA helicase DDX49	Homo sapiens (Human)	PR
Q9H0S4	DDX47	Probable ATP-dependent RNA helicase DDX47	Homo sapiens (Human)	PR
Q8TDD1	DDX54	ATP-dependent RNA helicase DDX54	Homo sapiens (Human)	PR
Q9GZR7	DDX24	ATP-dependent RNA helicase DDX24	Homo sapiens (Human)	PR
Q92499	DDX1	ATP-dependent RNA helicase DDX1	Homo sapiens (Human)	PR
Q9NY93	DDX56	Probable ATP-dependent RNA helicase DDX56	Homo sapiens (Human)	PR
Q569Z5	Ddx46	Probable ATP-dependent RNA helicase DDX46	Mus musculus (Mouse)	PR
Q62780	Ddx46	Probable ATP-dependent RNA helicase DDX46	Rattus norvegicus (Rat)	PR
Q8H0U8	RH42	DEAD-box ATP-dependent RNA helicase 42	Arabidopsis thaliana (Mouse-ear cress)	SS

10	20	30	40	50	60
MGRESRHYRK	RSASRGRSGS	RSRSRSPSDK	RSKRGDDRRS	RSRDRDRRRE	RSRSRDKRRS
70	80	90	100	110	120
RSRDRKRLRR	SRSRERDRSR	ERRRSRSRDR	RRSRSRSRGR	RSRSSSPGNK	SKKTENRSRS
130	140	150	160	170	180
KEKTDGGESS	KEKKKDKDDK	EDEKEKDAGN	FDQNKLEEEM	RKRKERVEKW	REEQRKKAME
190	200	210	220	230	240
NIGELKKEIE	EMKQGKKWSL	EDDDDDEDDP	AEAEKEGNEM	EGEELDPLDA	YMEEVKEEVK
250	260	270	280	290	300
KFNMRSVKGG	GGNEKKSGPT	VTKVVTVVTT	KKAVVDSDKK	KGELMENDQD	AMEYSSEEEE
310	320	330	340	350	360
VDLQTALTGY	QTKQRKLLEP	VDHGKIEYEP	FRKNFYVEVP	ELAKMSQEEV	NVFRLEMEGI
370	380	390	400	410	420
TVKGKGCPKP	IKSWVQCGIS	MKILNSLKKH	GYEKPTPIQT	QAIPAIMSGR	DLIGIAKTGS
430	440	450	460	470	480
GKTIAFLLPM	FRHIMDQRSL	EEGEGPIAVI	MTPTRELALQ	ITKECKKFSK	TLGLRVVCVY
490	500	510	520	530	540
GGTGISEQIA	ELKRGAEIIV	CTPGRMIDML	AANSGRVTNL	RRVTYVVLDE	ADRMFDMGFE
550	560	570	580	590	600
PQVMRIVDNV	RPDRQTVMFS	ATFPRAMEAL	ARRILSKPIE	VQVGGRSVVC	SDVEQQVIVI
610	620	630	640	650	660
EEEKKFLKLL	ELLGHYQESG	SVIIFVDKQE	HADGLLKDLM	RASYPCMSLH	GGIDQYDRDS
670	680	690	700	710	720
IINDFKNGTC	KLLVATSVAA	RGLDVKHLIL	VVNYSCPNHY	EDYVHRAGRT	GRAGNKGYAY
730	740	750	760	770	780
TFITEDQARY	AGDIIKALEL	SGTAVPPDLE	KLWSDFKDQQ	KAEGKIIKKS	SGFSGKGFKF
790	800	810	820	830	840
DETEQALANE	RKKLQKAALG	LQDSDDEDAA	VDIDEQIESM	FNSKKRVKDM	AAPGTSSVPA
850	860	870	880	890	900
PTAGNAEKLE	IAKRLALRIN	AQKNLGIESQ	DVMQQATNAI	LRGGTILAPT	VSAKTIAEQL
910	920	930	940	950	960
AEKINAKLNY	VPLEKQEEER	QDGGQNESFK	RYEEELEIND	FPQTARWKVT	SKEALQRISE
970	980	990	1000	1010	1020
YSEAAITIRG	TYFPPGKEPK	EGERKIYLAI	ESANELAVQK	AKAEITRLIK	EELIRLQNSY
1030
QPTNKGRYKV	L