AiPD: Autoinhibited Protein Database

Q9NXH8

Gene name	TOR4A (C9orf167)
Protein name	Torsin-4A
Names	Torsin family 4 member A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54863
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

43-142 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

43-142 (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

1 structures for Q9NXH8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NXH8-F1	Predicted				AlphaFoldDB

400 variants for Q9NXH8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs865965605 CA375803437	3	R>C		No	ClinGen TOPMed gnomAD
rs758093663 CA5367325	3	R>P		No	ClinGen ExAC TOPMed gnomAD
rs865965605 CA201747137	3	R>S		No	ClinGen TOPMed gnomAD
CA201747151 rs866838138	4	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	4	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA201747154 rs866838138	4	G>V		No	ClinGen TOPMed gnomAD
rs1564448073 CA375803457	6	P>R		No	ClinGen Ensembl
rs1278618264 CA375803464	7	S>I		No	ClinGen gnomAD
rs756782578 CA5367328	9	E>D		No	ClinGen ExAC TOPMed gnomAD
rs781116136 CA5367329	13	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781116136 CA375803518	13	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1328001241 CA375803528	13	A>V		No	ClinGen gnomAD
rs950776766 CA375803539	14	A>G		No	ClinGen TOPMed gnomAD
CA201747177 rs1030858247	14	A>P		No	ClinGen TOPMed
CA201747182 rs950776766	14	A>V		No	ClinGen TOPMed gnomAD
rs1311346745 CA375803552	15	P>L		No	ClinGen TOPMed
rs568590766 CA5367331	16	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779852811 CA5367332	16	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1588194566 CA375803594	19	G>R		No	ClinGen Ensembl
rs1443903927 CA375803609	20	R>Q		No	ClinGen gnomAD
CA375803668 rs1440220304	24	A>T		No	ClinGen gnomAD
CA375803700 rs1192865203	26	V>L		No	ClinGen TOPMed gnomAD
CA375803697 rs1192865203	26	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1193238564 CA375803715	27	R>G		No	ClinGen TOPMed
CA375803718 rs1489012797	27	R>H		No	ClinGen TOPMed
CA375803770 rs1414275718	31	R>C		No	ClinGen gnomAD
CA375803773 rs1221349804	31	R>L		No	ClinGen TOPMed
rs1221349804 CA375803775	31	R>P		No	ClinGen TOPMed
CA5367338 rs777149355	33	R>S		No	ClinGen ExAC
CA5367339 rs759994822	34	R>P		No	ClinGen ExAC gnomAD
CA375803822 rs1403474019	35	R>P		No	ClinGen gnomAD
CA375803820 rs1403474019	35	R>Q		No	ClinGen gnomAD
rs1416684947 CA375803896	40	R>H		No	ClinGen gnomAD
rs1304829944 CA375803928	42	R>Q		No	ClinGen TOPMed
rs1220675314 CA375803943	43	R>H		No	ClinGen TOPMed
rs1289901909 CA375803999	47	P>Q		No	ClinGen TOPMed gnomAD
rs763469220 CA5367342 CA201747256	49	G>R		No	ClinGen ExAC TOPMed gnomAD
rs763469220 CA375804022	49	G>W		No	ClinGen ExAC TOPMed gnomAD
CA375804034 rs1256095143	50	G>R		No	ClinGen gnomAD
CA5367343 rs763833242	53	V>D		No	ClinGen ExAC gnomAD
rs759575458 CA375804077	53	V>I		No	ClinGen gnomAD
rs759575458 CA201747262	53	V>L		No	ClinGen gnomAD
CA201747271 rs928420286	56	G>R		No	ClinGen TOPMed gnomAD
rs756732176 CA5367345	57	A>S		No	ClinGen ExAC TOPMed gnomAD
CA375804116 rs756732176	57	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5367346 rs201905429	59	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150975361 CA5367347	60	P>Q		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs1167327930 CA375804143	61	G>D		No	ClinGen gnomAD
rs1370331378 CA375804157	63	S>I		No	ClinGen gnomAD
rs140790014 CA5367349	65	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1385901957 CA375804172	66	A>T		No	ClinGen gnomAD
rs1301272936 CA375804179	67	P>Q		No	ClinGen gnomAD
CA375804191 rs1264908673	69	A>E		No	ClinGen TOPMed
CA375804202 rs1332328803	71	L>M		No	ClinGen TOPMed gnomAD
rs1225150796 CA375804206	71	L>P		No	ClinGen TOPMed gnomAD
CA375804221 rs756010829	73	Q>H		No	ClinGen ExAC gnomAD
CA375804215 rs1296838876	73	Q>K		No	ClinGen TOPMed gnomAD
rs1289364004 CA375804227	74	P>L		No	ClinGen gnomAD
rs780012275 CA375804224	74	P>S		No	ClinGen ExAC gnomAD
rs780012275 CA5367351	74	P>T		No	ClinGen ExAC gnomAD
CA375804229 rs1487589694	75	K>E		No	ClinGen gnomAD
CA5367352 rs749081182	75	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA375804241 rs754775321 CA375804242	76	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA201747305 rs767507736	78	T>A		No	ClinGen Ensembl
CA375804255 rs1435048418	78	T>I		No	ClinGen gnomAD
CA375804259 rs1221893164	79	F>C		No	ClinGen TOPMed
rs1390154658 CA375804262	79	F>L		No	ClinGen gnomAD
CA201747312 rs747220493	80	D>N		No	ClinGen ExAC gnomAD
CA5367355 rs747220493	80	D>Y		No	ClinGen ExAC gnomAD
rs1367088425 CA375804273	81	S>N		No	ClinGen gnomAD
rs900401538 CA375804285	83	A>S		No	ClinGen TOPMed
rs900401538 CA201747313	83	A>T		No	ClinGen TOPMed
rs776542950 CA5367357	83	A>V		No	ClinGen ExAC gnomAD
CA375804300 rs1319336346	85	L>P		No	ClinGen gnomAD
CA375804303 rs1365793726	86	P>S		No	ClinGen gnomAD
rs574903060 CA375804311	87	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA5367360 rs574903060	87	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs764565108 CA5367362	88	R>S		No	ClinGen ExAC gnomAD
CA201747327 rs544448201	89	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs774004983 CA5367363	89	T>S		No	ClinGen ExAC gnomAD
rs1206847697 CA375804333	91	R>L		No	ClinGen gnomAD
CA375804339 rs1247522892	92	K>R		No	ClinGen gnomAD
CA5367365 rs554590319	93	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1051590759 CA375804349	94	R>C		No	ClinGen TOPMed gnomAD
rs1051590759 CA201747333	94	R>G		No	ClinGen TOPMed gnomAD
rs1423638661 CA375804353	94	R>H		No	ClinGen gnomAD
rs1405780561 CA375804356	95	R>Q		No	ClinGen TOPMed
rs1467035277 CA375804355	95	R>W		No	ClinGen TOPMed
rs886241546 CA201747337	96	R>C		No	ClinGen TOPMed
rs749875664 CA5367366	96	R>H		No	ClinGen ExAC TOPMed gnomAD
CA375804366 rs1251005107	97	S>N		No	ClinGen gnomAD
rs755675049 CA5367367	98	R>C		No	ClinGen ExAC gnomAD
rs1193474299 CA375804378	99	L>Q		No	ClinGen TOPMed
CA5367369 rs753790406	101	L>H		No	ClinGen ExAC gnomAD
rs766241219 CA5367368	101	L>I		No	ClinGen ExAC gnomAD
rs754722062 CA5367370	102	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1378131772 CA375804392	102	Y>H		No	ClinGen gnomAD
rs778606281 CA5367371	103	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375804400 rs1183498289	103	P>S		No	ClinGen TOPMed
rs867930575 CA201747359	104	E>D		No	ClinGen Ensembl
rs76217292 CA5367373	105	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5367374 rs781536563	105	T>N		No	ClinGen ExAC gnomAD
rs1329988735 CA375804422	107	R>C		No	ClinGen gnomAD
rs540037854 CA201747366	107	R>H		No	ClinGen 1000Genomes gnomAD
CA375804423 rs540037854	107	R>P		No	ClinGen 1000Genomes gnomAD
rs1199266858 CA375804437	109	Y>C		No	ClinGen gnomAD
rs1483223463 CA375804447	111	P>S		No	ClinGen gnomAD
rs368741378 CA201747368	112	R>L		No	ClinGen ESP gnomAD
rs1471372424 CA375804457	113	V>M		No	ClinGen gnomAD
CA375804463 rs1412061342	114	E>K		No	ClinGen gnomAD
CA5367377 rs780648944	116	R>T		No	ClinGen ExAC gnomAD
rs906199527 CA201747383	117	S>G		No	ClinGen gnomAD
CA5367379 rs769022745	117	S>N		No	ClinGen ExAC TOPMed gnomAD
CA375804494 COSM3395699 rs1408213663	118	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs774546018 CA5367381	119	A>T		No	ClinGen ExAC gnomAD
rs1025581321 CA201747400	119	A>V		No	ClinGen gnomAD
CA375804502 rs1276632793	120	Q>E		No	ClinGen gnomAD
rs762282909 CA375804510	121	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762282909 CA5367382	121	R>G		No	ClinGen ExAC TOPMed gnomAD
CA375804523 rs1211453963	123	L>F		No	ClinGen gnomAD
rs1482318283 CA375804551	128	A>S		No	ClinGen gnomAD
CA201747408 rs1016334461	130	V>G		No	ClinGen TOPMed
CA375804587 rs145168574	133	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA375804622 rs1433638966	139	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	140	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368463198 CA375804639	141	L>V		No	ClinGen gnomAD
rs1428912676 CA375804645	142	D>N		No	ClinGen gnomAD
rs1308436945 CA375804652	143	D>Y		No	ClinGen gnomAD
rs1166232812 CA375804669	145	A>E		No	ClinGen TOPMed
rs147554658 CA5367387	145	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs964164086 CA201747422	146	Q>R		No	ClinGen TOPMed gnomAD
CA375804682 rs868281818	147	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA201747426 rs868281818	147	R>L		No	ClinGen TOPMed
rs976836380 CA201747430	150	L>V		No	ClinGen TOPMed gnomAD
CA5367389 rs141961517	151	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5367390 rs141961517	151	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA375804720 rs1340452099	153	L>P		No	ClinGen gnomAD
rs1337639070 CA375804725	154	E>G		No	ClinGen TOPMed
rs970995117 CA201747434	154	E>Q		No	ClinGen TOPMed
rs371014677 CA5367392	155	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA375804746 rs1218944795	157	L>R		No	ClinGen gnomAD
rs781204162 CA5367393	159	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs982736393 CA201747443	159	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	160	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1388196299 CA375804765	161	V>M		No	ClinGen gnomAD
CA5367395 CA375804777 rs750687441	162	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1168924231 CA375804782	163	G>D		No	ClinGen gnomAD
CA375804795 rs1588194893	165	P>L		No	ClinGen Ensembl
rs201206306 CA201747452	166	A>P		No	ClinGen gnomAD
CA5367397 rs749417257	166	A>V		No	ClinGen ExAC gnomAD
CA375804806 rs926248774	167	A>G		No	ClinGen TOPMed
rs926248774 CA201747459	167	A>V		No	ClinGen TOPMed
TCGA novel	168	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375804808 rs1328030154	168	V>L		No	ClinGen gnomAD
CA375804818 rs1363592241	169	S>L		No	ClinGen TOPMed gnomAD
CA375804817 rs1363592241	169	S>W		No	ClinGen TOPMed gnomAD
rs1228317228 CA375804821	170	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375804822 rs1298719792	170	R>H		No	ClinGen TOPMed gnomAD
CA375804824 rs1298719792	170	R>L		No	ClinGen TOPMed gnomAD
CA201747462 rs936153231	172	V>A		No	ClinGen TOPMed gnomAD
CA5367399 rs779528547	176	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA201747470 rs868269946	176	R>W		No	ClinGen Ensembl
rs1435869423 CA375804909	179	L>P		No	ClinGen TOPMed
CA375804906 rs1464345572	179	L>V		No	ClinGen gnomAD
CA201747483 rs988531003	181	T>P		No	ClinGen TOPMed gnomAD
CA375804945 rs1223579862	182	H>Y		No	ClinGen TOPMed
CA375804999 rs1471711957	185	S>I		No	ClinGen TOPMed gnomAD
rs1471711957 CA375804996	185	S>T		No	ClinGen TOPMed gnomAD
rs1161659118 CA375805020	186	R>H		No	ClinGen gnomAD
CA201747502 rs906170854	192	L>P		No	ClinGen TOPMed
CA375805090 rs755991766	192	L>V		No	ClinGen ExAC TOPMed gnomAD
rs929683400 CA201747504	194	G>R		No	ClinGen Ensembl
CA375805148 rs1405218625	196	S>C		No	ClinGen TOPMed
rs1321883874 CA375805152	196	S>N		No	ClinGen gnomAD
rs1328532400 CA375805157	196	S>R		No	ClinGen gnomAD
CA375805144 rs1405218625	196	S>R		No	ClinGen TOPMed
CA375805161 rs1210417305	197	G>S		No	ClinGen gnomAD
TCGA novel	197	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	198	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779251221 CA201747509	199	G>R		No	ClinGen Ensembl
CA375805273 rs1588194956	204	G>R		No	ClinGen Ensembl
rs1265682449 CA375805319	208	A>T		No	ClinGen gnomAD
CA201747510 rs888406078	208	A>V		No	ClinGen TOPMed gnomAD
rs1440654585 CA375805380	212	R>C		No	ClinGen gnomAD
rs947066987 CA201747511	213	S>L		No	ClinGen TOPMed gnomAD
CA375805405 rs947066987	213	S>W		No	ClinGen TOPMed gnomAD
CA375805424 rs1475623173	215	L>Q		No	ClinGen gnomAD
CA5367406 rs759145612	216	E>Q		No	ClinGen ExAC gnomAD
CA201747516 rs1005387168	217	D>E		No	ClinGen TOPMed gnomAD
CA201747514 rs974434922	217	D>Y		No	ClinGen TOPMed
CA375805499 COSM1744594 rs1218837434	219	A>V	biliary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1387711412 CA375805522	221	V>M		No	ClinGen gnomAD
rs1333858819 CA375805565	224	Y>H		No	ClinGen gnomAD
rs1018082332 CA201747521	225	H>L		No	ClinGen gnomAD
CA375805595 rs1416239890	225	H>Q		No	ClinGen gnomAD
CA375805601 rs1263394307	226	A>P		No	ClinGen TOPMed gnomAD
rs753005939 CA201747528	227	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753005939 CA5367407	227	R>P		No	ClinGen ExAC TOPMed gnomAD
CA375805613 rs1349316707	227	R>W		No	ClinGen TOPMed gnomAD
rs1051642633 CA201747531	229	H>Q		No	ClinGen TOPMed gnomAD
CA375805643 rs1588195010	229	H>R		No	ClinGen Ensembl
rs1199814365 CA375805673	231	P>L		No	ClinGen TOPMed gnomAD
rs1486565593 CA375805676	232	E>K		No	ClinGen TOPMed gnomAD
CA375805691 rs1213248404	233	A>S		No	ClinGen gnomAD
rs1249950557 CA375805696	233	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5367408 rs752685951	234	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	234	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477318903 CA375805715	236	A>S		No	ClinGen gnomAD
rs1477318903 CA375805717	236	A>T		No	ClinGen gnomAD
rs762596174 CA375805738	238	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	238	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5367409 rs762596174	238	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA375805771 rs1376416821	240	R>H		No	ClinGen TOPMed gnomAD
CA375805774 rs1376416821	240	R>L		No	ClinGen TOPMed gnomAD
rs1376416821 CA375805772	240	R>P		No	ClinGen TOPMed gnomAD
CA375805820 rs1369515638	244	A>E		No	ClinGen TOPMed gnomAD
rs1306591331 CA375805814	244	A>T		No	ClinGen gnomAD
CA375805829 rs1308440788	245	R>Q		No	ClinGen gnomAD
CA5367411 rs201969591	246	R>H		No	ClinGen ExAC TOPMed gnomAD
CA375805841 rs1275406408	247	V>M		No	ClinGen gnomAD
rs1203357996 CA375805870	249	D>G		No	ClinGen TOPMed
rs1349754823 CA375805863	249	D>N		No	ClinGen gnomAD
CA375805880 rs756370946	250	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5367412 rs756370946	250	V>M	Variant assessed as Somatic; 0.0004669 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753950012 CA5367414	251	V>M		No	ClinGen ExAC gnomAD
CA5367416 rs779234181	253	R>G		No	ClinGen ExAC gnomAD
rs779234181 CA375805907	253	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375805914 rs1339438234	254	A>P		No	ClinGen TOPMed
CA375805925 rs1396163658	255	E>K		No	ClinGen TOPMed gnomAD
CA375805927 rs1396163658	255	E>Q		No	ClinGen TOPMed gnomAD
rs1167032474 CA375805949	257	E>K		No	ClinGen gnomAD
rs1389959834 CA375805995	260	T>S		No	ClinGen gnomAD
rs1341083106 CA375806013	261	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375806039 rs1451577111	264	V>L		No	ClinGen TOPMed
CA375806069 rs1387907789	266	D>E		No	ClinGen gnomAD
rs1403714910 CA375806072	267	D>N		No	ClinGen TOPMed
rs758652301 CA375806110	269	E>D		No	ClinGen ExAC TOPMed gnomAD
CA375806104 rs1173052044	269	E>V		No	ClinGen TOPMed
rs1419099334 CA375806114	270	L>F		No	ClinGen TOPMed
rs867188138 CA201747561	272	P>S		No	ClinGen Ensembl
CA375806150 rs1432815136	273	R>L		No	ClinGen gnomAD
CA375806148 rs1432815136	273	R>Q		No	ClinGen gnomAD
rs1228387756 CA375806161	274	P>L		No	ClinGen gnomAD
CA375806155 rs1342693335	274	P>S		No	ClinGen gnomAD
CA375806192 CA375806194 rs1253354799	277	D>E		No	ClinGen TOPMed gnomAD
rs1354538745 CA375806196	278	E>K		No	ClinGen TOPMed gnomAD
rs770559835 CA375806227	280	H>P		No	ClinGen ExAC gnomAD
rs770559835 CA5367422	280	H>R		No	ClinGen ExAC gnomAD
rs1187286378 CA375806239	281	G>C		No	ClinGen gnomAD
CA375806240 rs1247790406	281	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1247790406 CA375806244	281	G>V		No	ClinGen gnomAD
CA375806250 rs1429517659	282	F>L		No	ClinGen gnomAD
rs776333172 CA5367423	283	L>M		No	ClinGen ExAC gnomAD
CA375806262 rs1366299540	283	L>P		No	ClinGen gnomAD
rs1206156089 CA375806287	285	P>L		No	ClinGen TOPMed
rs1206156089 CA375806286	285	P>R		No	ClinGen TOPMed
CA375806282 rs1457120583	285	P>S		No	ClinGen TOPMed gnomAD
CA375806302 rs1164922883	286	Q>H		No	ClinGen gnomAD
rs1396111941 CA375806310	287	R>H		No	ClinGen gnomAD
CA375806311 rs1396111941	287	R>P		No	ClinGen gnomAD
rs1319855233 CA375806323	288	S>F		No	ClinGen gnomAD
rs769359928 CA5367425	289	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1383659695 CA375806338	290	H>D		No	ClinGen gnomAD
CA375806353 rs1286528892	291	F>L		No	ClinGen gnomAD
CA375806396 rs1273873451	294	A>S		No	ClinGen gnomAD
CA5367427 rs762976423	296	Y>*		No	ClinGen ExAC gnomAD
CA375806423 rs1207348462	296	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1315634447 CA375806467	300	S>T		No	ClinGen TOPMed
rs766699072 CA375806491	302	A>E		No	ClinGen ExAC TOPMed gnomAD
rs761755058 CA5367430	302	A>S		No	ClinGen ExAC TOPMed gnomAD
rs761755058 CA375806486	302	A>T		No	ClinGen ExAC TOPMed gnomAD
rs766699072 CA5367431	302	A>V		No	ClinGen ExAC TOPMed gnomAD
CA375806502 rs1422817686	303	G>V		No	ClinGen gnomAD
rs754966910 CA5367433	304	G>D		No	ClinGen ExAC gnomAD
CA5367432 rs754090642	304	G>S		No	ClinGen ExAC gnomAD
CA375806511 rs754966910	304	G>V		No	ClinGen ExAC gnomAD
rs906486885 CA201747595	308	T>A		No	ClinGen TOPMed
rs1455289879 CA375806568	309	R>H		No	ClinGen gnomAD
rs1327116309 CA375806564	309	R>S		No	ClinGen TOPMed
CA375806627 rs1401301241	315	A>T		No	ClinGen gnomAD
CA201747620 rs758919820	316	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5367437 rs758919820	316	S>F		No	ClinGen ExAC TOPMed gnomAD
CA375806640 rs758919820	316	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs967762955 CA201747625	317	R>G		No	ClinGen TOPMed
CA375806654 rs1588195233	318	A>S		No	ClinGen Ensembl
CA5367438 rs778311391	318	A>V		No	ClinGen ExAC TOPMed gnomAD
rs769146062 CA5367443	320	P>L		No	ClinGen ExAC TOPMed gnomAD
CA201747649 rs974865624	322	R>C		No	ClinGen TOPMed gnomAD
rs1471426096 CA375806687	322	R>H		No	ClinGen gnomAD
CA375806685 rs974865624	322	R>S		No	ClinGen TOPMed gnomAD
CA375806695 rs1408091922	323	P>L		No	ClinGen gnomAD
CA375806694 rs1408091922	323	P>R		No	ClinGen gnomAD
TCGA novel	324	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224073981 CA375806707	325	G>A		No	ClinGen TOPMed
rs1224073981 CA375806706	325	G>D		No	ClinGen TOPMed
CA375806704 rs761630196	325	G>R		No	ClinGen ExAC gnomAD
CA5367448 rs761630196	325	G>S		No	ClinGen ExAC gnomAD
CA5367449 rs28516757	326	F>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200176651 CA201747658	326	F>I		No	ClinGen Ensembl
CA375806712 rs28516757	326	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1375283743 CA375806719	327	R>H		No	ClinGen TOPMed gnomAD
CA375806720 rs1375283743	327	R>L		No	ClinGen TOPMed gnomAD
rs199677353 CA201747662	328	S>C		No	ClinGen ESP
rs200500470 CA201747664	329	A>G		No	ClinGen gnomAD
CA375806732 rs200500470	329	A>V		No	ClinGen gnomAD
CA201747670 rs879817809	330	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1408236830 CA375806749	332	A>S		No	ClinGen gnomAD
CA5367451 rs201473993	333	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375806753 rs1374217845	333	A>T		No	ClinGen gnomAD
CA201747673 rs201473993	333	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1347818455 CA375806762	334	A>V		No	ClinGen gnomAD
rs1282922170 CA375806767	335	Q>R		No	ClinGen gnomAD
CA375806774 rs1203454613	336	A>E		No	ClinGen gnomAD
rs1481837730 CA375806772	336	A>T		No	ClinGen gnomAD
CA375806776 rs1203454613	336	A>V		No	ClinGen gnomAD
rs1481350211 CA375806777	337	E>K		No	ClinGen gnomAD
rs764519206 CA375806807	341	R>C		No	ClinGen ExAC TOPMed gnomAD
CA201747688 rs929624909	341	R>H		No	ClinGen Ensembl
rs764519206 CA5367455	341	R>S		No	ClinGen ExAC TOPMed gnomAD
rs372513147 CA5367456	342	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA201747692 rs888114734	342	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs757567749 CA5367457	343	S>N		No	ClinGen ExAC gnomAD
CA375806820 rs781567823	343	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5367460 rs551859834	346	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375806832 rs551859834	346	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1442307502 CA375806836	347	V>M		No	ClinGen gnomAD
rs1340569926 CA375806843	348	L>V		No	ClinGen gnomAD
rs1213591697 CA375806852	349	S>F		No	ClinGen TOPMed gnomAD
CA375806853 rs779627310	350	R>G		No	ClinGen ExAC TOPMed gnomAD
CA375806854 rs1308912369	350	R>Q		No	ClinGen gnomAD
CA5367461 rs779627310	350	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1251839450 CA375806857	351	E>K		No	ClinGen gnomAD
rs1037531878 CA201747712	353	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA375806903 rs1168306523	357	A>G		No	ClinGen gnomAD
rs370106962 CA5367463	357	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403123690 CA375806907	358	A>T		No	ClinGen TOPMed
rs1420445340 CA375806910	358	A>V		No	ClinGen TOPMed gnomAD
CA375806933 rs748130840	362	P>L		No	ClinGen ExAC gnomAD
rs748130840 CA5367465	362	P>R		No	ClinGen ExAC gnomAD
rs1393914290 CA375806932	362	P>S		No	ClinGen gnomAD
rs899644102 CA201747724	364	L>V		No	ClinGen TOPMed gnomAD
rs906545461 CA201747727	366	L>P		No	ClinGen TOPMed
CA375806974 rs1363549925	369	R>Q		No	ClinGen gnomAD
CA375806985 rs1226270977	371	V>M		No	ClinGen gnomAD
CA5367468 rs760448708	373	S>R		No	ClinGen ExAC TOPMed gnomAD
CA375807009 rs1429480779	374	C>Y		No	ClinGen TOPMed
rs1446390420 CA375807024	376	R>L		No	ClinGen gnomAD
rs1446390420 CA375807023	376	R>Q		No	ClinGen gnomAD
rs199688594 CA5367469	377	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA375807026 rs1193551173	377	D>N		No	ClinGen gnomAD
rs1476508173 CA375807033	378	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1417217942 CA375807044	379	M>K		No	ClinGen TOPMed gnomAD
rs1417217942 CA375807045	379	M>T		No	ClinGen TOPMed gnomAD
CA375807042 rs1186167263	379	M>V		No	ClinGen TOPMed gnomAD
rs1178720118 CA375807053	380	A>V		No	ClinGen gnomAD
rs775581175 CA5367470	381	G>C		No	ClinGen ExAC TOPMed gnomAD
rs775581175 CA201747741	381	G>S		No	ClinGen ExAC TOPMed gnomAD
rs762963375 CA5367471	382	E>D		No	ClinGen ExAC gnomAD
rs1387037016 CA375807071	383	G>V		No	ClinGen gnomAD
rs1319323755 CA375807077	384	F>C		No	ClinGen gnomAD
CA5367473 rs752020536	386	P>L		No	ClinGen ExAC gnomAD
CA5367474 rs762277072	388	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA5367475 rs199638778	389	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1461711604 CA375807109	389	A>T		No	ClinGen TOPMed gnomAD
rs750784501 CA5367476	390	R>C		No	ClinGen ExAC TOPMed gnomAD
rs750784501 CA201747762	390	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1285918132 CA375807117	390	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756500552 CA5367477	391	A>G		No	ClinGen ExAC gnomAD
CA375807120 rs1349796802 COSM4152196	391	A>S	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5367479 rs753551148	392	E>*		No	ClinGen ExAC gnomAD
TCGA novel	392	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375807123 rs753551148	392	E>K		No	ClinGen ExAC gnomAD
CA375807143 rs1257013019	395	A>S		No	ClinGen gnomAD
CA201747772 rs1029132302	395	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5367483 rs200623737	396	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1362147983 CA375807152	396	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1159720501 CA375807153	397	Q>*		No	ClinGen gnomAD
rs1410579368 CA375807160	397	Q>H		No	ClinGen gnomAD
CA375807158 rs1588195458	397	Q>L		No	ClinGen Ensembl
CA201747785 rs981669516	398	L>F		No	ClinGen TOPMed gnomAD
rs1312686365 CA375807169	399	S>N		No	ClinGen gnomAD
CA375807192 rs1464273319	402	R>C		No	ClinGen TOPMed
rs775733690 CA5367487	403	V>M		No	ClinGen ExAC gnomAD
CA5367489 rs768905936	406	R>H		No	ClinGen ExAC gnomAD
CA375807225 rs1427415981	407	E>D		No	ClinGen TOPMed
rs866353937 CA201747800 COSM1199083	409	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs951124392 CA201747813	410	V>I		No	ClinGen TOPMed gnomAD
CA375807246 rs1280784636	411	T>S		No	ClinGen gnomAD
rs1213361223 CA375807253	412	G>D		No	ClinGen TOPMed gnomAD
rs1564448651 CA375807250	412	G>S		No	ClinGen Ensembl
rs982947470 CA201747818	413	C>W		No	ClinGen gnomAD
CA201747822 rs909521449	414	K>Q		No	ClinGen Ensembl
CA5367492 rs577121226	414	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA375807282 rs1588195495	416	V>G		No	ClinGen Ensembl
CA375807288 rs1588195498	417	V>G		No	ClinGen Ensembl
CA375807289 rs1453122280	418	A>T		No	ClinGen gnomAD
rs1396128210 CA375807299	419	T>K		No	ClinGen gnomAD
TCGA novel	419	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375807317 rs1395120798	422	L>F		No	ClinGen gnomAD
rs766673213 CA5367495	423	L>M		No	ClinGen ExAC gnomAD

No associated diseases with Q9NXH8

1 regional properties for Q9NXH8

Type	Name	Position	InterPro Accession
domain	AAA+ ATPase domain	186 - 319	IPR003593

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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).
platelet alpha granule lumen	The volume enclosed by the membrane of the platelet alpha granule.

2 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.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9ER38	Tor3a	Torsin-3A	Mus musculus (Mouse)	PR
Q8BH02	Tor4a	Torsin-4A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDRGQPSLEP	AAAAPRASGR	CVIAPVRAVL	RLRRRVCVLR	KRRLLQPGGG	PDVGTGAPRP
70	80	90	100	110	120
GCSPRAPRAD	LDQPKFFTFD	SPAELPSRTP	RKKRRRSRLV	LYPETSRKYR	PRVEHRSRAQ
130	140	150	160	170	180
RCLLLLVAIV	GFQVLNAIEN	LDDNAQRYDL	DGLEKALQRA	VFGQPAAVSR	IVALMRDYLA
190	200	210	220	230	240
THVHSRPLLL	ALHGPSGVGK	SHVGRLLARH	FRSVLEDSAL	VLQYHARHHC	PEARAAQDCR
250	260	270	280	290	300
EELARRVADV	VARAEAEEKT	PLLVLDDVEL	MPRPLLDELH	GFLQPQRSHH	FHNAIYVLLS
310	320	330	340	350	360
GAGGAEVTRF	VLQNASRALP	LRPDGFRSAE	AAAAQAEEDL	RASLLAVLSR	EHPLWQAAAI
370	380	390	400	410	420
VPFLLLDKRD	VVSCFRDEMA	GEGFFPDQAR	AENLAAQLSF	YRVAGREFAV	TGCKQVVATV

NLL