AiPD: Autoinhibited Protein Database

Q8WXF1

Gene name	PSPC1 (PSP1)
Protein name	Paraspeckle component 1
Names	Paraspeckle protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55269
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

215-293 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

215-293 (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

4 structures for Q8WXF1

Entry ID	Method	Resolution	Chain	Position	Source
3SDE	X-ray	190 A	A	61-320	PDB
5IFN	X-ray	317 A	A/B	61-320	PDB
5WPA	X-ray	229 A	B	61-320	PDB
AF-Q8WXF1-F1	Predicted				AlphaFoldDB

386 variants for Q8WXF1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6902620 rs767848838	5	G>E		No	ClinGen ExAC gnomAD
CA6902621 rs773504083	5	G>R		No	ClinGen ExAC gnomAD
rs1199117163 CA387451121	9	Q>R		No	ClinGen gnomAD
CA6902618 rs748524016	11	R>H		No	ClinGen ExAC gnomAD
rs748524016 CA6902617	11	R>L		No	ClinGen ExAC gnomAD
CA387451108 rs748524016	11	R>P		No	ClinGen ExAC gnomAD
rs749717079 CA6902616	14	K>E		No	ClinGen ExAC gnomAD
rs775944300 CA6902615	15	N>T		No	ClinGen ExAC gnomAD
CA6902611 rs780885762	16	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6902612 rs780885762	16	P>R		No	ClinGen ExAC TOPMed gnomAD
rs769993596 CA6902613	16	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756884975 CA6902610	18	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1269320544 CA387451065	18	R>L		No	ClinGen gnomAD
rs1342153460 CA387451060	19	L>P		No	ClinGen TOPMed gnomAD
rs1413608294 CA387451053	20	R>L		No	ClinGen gnomAD
rs758385580 CA6902607	21	A>T		No	ClinGen ExAC gnomAD
CA246421672 rs531096071	22	L>Q		No	ClinGen TOPMed
CA387451031 rs1429915702	24	S>F		No	ClinGen gnomAD
rs752520243 CA6902606	24	S>T		No	ClinGen ExAC gnomAD
rs1166463167 CA387451014	27	G>D		No	ClinGen gnomAD
rs1396239405 CA387451018	27	G>S		No	ClinGen gnomAD
CA387451001 rs539884917	29	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs201263692 CA6902602	29	S>R		No	ClinGen ExAC TOPMed gnomAD
rs539884917 CA6902604	29	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs901807654 CA246421643	30	E>K		No	ClinGen TOPMed gnomAD
CA387450986 rs1254326612	31	P>L		No	ClinGen gnomAD
TCGA novel	32	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762096185 CA6902601	34	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1020629304 CA246421635	35	A>V		No	ClinGen Ensembl
CA387450954 rs1193828544	37	M>T		No	ClinGen gnomAD
CA387450956 rs1427547237	37	M>V		No	ClinGen TOPMed
TCGA novel	37	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387450948 rs1433781701	38	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6902599 rs764029899	38	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6902596 rs770325955	40	A>D		No	ClinGen ExAC TOPMed gnomAD
CA6902597 rs770325955	40	A>G		No	ClinGen ExAC TOPMed gnomAD
CA387450937 rs1353030896	40	A>T		No	ClinGen gnomAD
rs770325955 CA246421604	40	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6902594 rs776953530	41	L>R		No	ClinGen ExAC gnomAD
rs746285946 CA6902595	41	L>V		No	ClinGen ExAC gnomAD
CA387450927 rs1434786791	42	A>D		No	ClinGen TOPMed
rs1434786791 CA387450925	42	A>V		No	ClinGen TOPMed
CA6902592 rs746618871	43	G>W		No	ClinGen ExAC gnomAD
COSM1606897 CA6902591 rs777359329	44	E>K	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA387450909 rs1164825884	45	P>L		No	ClinGen TOPMed gnomAD
CA387450908 rs1164825884	45	P>Q		No	ClinGen TOPMed gnomAD
CA6902590 rs757781436	46	A>V		No	ClinGen ExAC TOPMed gnomAD
CA387450900 rs1159953750	47	P>A		No	ClinGen TOPMed gnomAD
rs1159953750 CA387450899	47	P>T		No	ClinGen TOPMed gnomAD
rs1294838061 CA387450890	48	P>L		No	ClinGen TOPMed
CA387450886 rs1179471895	49	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM125646 rs1253327966 CA387450881	50	P>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6902582 rs766236060	54	E>K		No	ClinGen ExAC gnomAD
CA6902579 rs764236210	56	H>Q		No	ClinGen ExAC gnomAD
rs763005763 CA387450810	57	P>A		No	ClinGen ExAC gnomAD
CA6902577 rs752804733	57	P>L		No	ClinGen ExAC gnomAD
rs763005763 CA6902578	57	P>S		No	ClinGen ExAC gnomAD
rs1451442037 CA387450775	59	E>G		No	ClinGen TOPMed
CA387450755 rs1413716702	60	E>D		No	ClinGen TOPMed
rs759999858 CA6902575	61	M>K		No	ClinGen ExAC gnomAD
CA387450731 rs1160063749	62	G>E		No	ClinGen gnomAD
CA387450733 rs1391434077	62	G>R		No	ClinGen TOPMed gnomAD
rs777004665 CA6902574	65	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6902573 rs771230450	66	D>N		No	ClinGen ExAC gnomAD
TCGA novel	68	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478448246 CA387450636	69	S>G		No	ClinGen gnomAD
CA387450621 rs1192728889	69	S>R		No	ClinGen gnomAD
rs772808060 CA6902571	69	S>T		No	ClinGen ExAC gnomAD
CA387450603 rs1467112713	70	F>L		No	ClinGen gnomAD
TCGA novel	73	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387450558 rs1350093141	73	P>T		No	ClinGen TOPMed
CA387450545 rs1445913477	75	E>K		No	ClinGen gnomAD
CA387450333 rs1303184694	86	V>M		No	ClinGen gnomAD
TCGA novel	88	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755902152 CA6902564	88	N>S		No	ClinGen ExAC
CA387450271 rs1435209917	89	L>P		No	ClinGen TOPMed
TCGA novel	93	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387450227 rs1354247978	93	I>V		No	ClinGen TOPMed
CA6902563 rs750226096	94	T>M		No	ClinGen ExAC gnomAD
rs1430564594 CA387450178	96	E>D		No	ClinGen gnomAD
CA387450163 rs1229809538	98	F>I		No	ClinGen TOPMed
rs1343526704 CA387450122	101	L>P		No	ClinGen gnomAD
CA387450096 rs1322523909	103	E>G		No	ClinGen TOPMed
rs1566067730 CA387450102	103	E>Q		No	ClinGen Ensembl
rs1208300845 CA387450060	107	E>K		No	ClinGen TOPMed
TCGA novel	109	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387450027 rs1566067671	109	S>R		No	ClinGen Ensembl
rs752755076 CA6902560 COSM1222387	111	V>F	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6902559 rs765316376	114	N>S		No	ClinGen ExAC gnomAD
rs1208385505 CA387449902	116	D>E		No	ClinGen gnomAD
TCGA novel	117	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	121	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387449771 rs1187043309	123	R>G		No	ClinGen gnomAD
rs778971748 CA6902540	125	E>A		No	ClinGen ExAC TOPMed gnomAD
rs766922316 CA6902537	135	A>T		No	ClinGen ExAC gnomAD
CA387448328 rs1263061738	136	E>G		No	ClinGen TOPMed
CA6902533 rs201903737	140	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs867206225 CA246416265	142	L>F		No	ClinGen Ensembl
rs1238367633 CA387448181	144	S>N		No	ClinGen TOPMed
rs773985876 CA6902532	146	P>S		No	ClinGen ExAC gnomAD
TCGA novel	147	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs983979731 CA246416256	147	L>V		No	ClinGen gnomAD
CA6902529 rs775115126	148	R>Q		No	ClinGen ExAC gnomAD
CA6902530 rs762606545	148	R>W		No	ClinGen ExAC gnomAD
CA6902528 rs769889904	149	I>T		No	ClinGen ExAC gnomAD
CA387448098 rs1469948405	150	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1271393125 CA387448064	152	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1413790205 CA387448023	153	T>A		No	ClinGen TOPMed
TCGA novel	156	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387447949 rs1317810019	157	A>S		No	ClinGen gnomAD
rs1222214599 CA387447931	159	T>S		No	ClinGen TOPMed gnomAD
CA387447929 rs1327617821	160	V>L		No	ClinGen gnomAD
rs61159938 CA246416204	161	K>N		No	ClinGen Ensembl
rs375378380 CA6902523	161	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	162	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA246416183 rs763615108	166	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6902521 rs763615108	166	V>L		No	ClinGen ExAC TOPMed gnomAD
CA387447849 rs1364081188	168	S>P		No	ClinGen gnomAD
TCGA novel	178	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6902519 rs756600720	181	P>A		No	ClinGen ExAC gnomAD
CA6902518 rs372096075	182	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	183	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416572384 CA387447503	186	V>A		No	ClinGen gnomAD
CA6902517 rs767777901	186	V>I		No	ClinGen ExAC gnomAD
CA246416162 rs201045676	189	V>L		No	ClinGen 1000Genomes
TCGA novel	191	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757706241 CA6902516	192	R>H		No	ClinGen ExAC gnomAD
TCGA novel	194	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	197	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282786203 CA387447295	199	G>C		No	ClinGen TOPMed
TCGA novel	199	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762660132 CA6902513	205	A>G		No	ClinGen ExAC gnomAD
rs1566053366 CA387447191	207	P>S		No	ClinGen Ensembl
TCGA novel	210	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387447061 rs1385066410	218	D>N		No	ClinGen gnomAD
rs746870227 CA6902507	225	T>M		No	ClinGen ExAC gnomAD
rs753266299 CA6902488	226	T>N		No	ClinGen ExAC gnomAD
rs1169970121 CA387453026	226	T>S		No	ClinGen gnomAD
rs1019475729 CA246442331	228	R>C		No	ClinGen TOPMed gnomAD
COSM263150 rs370840309 CA6902487	228	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs370840309 CA387453014	228	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA387453003 rs1566037522	230	V>A		No	ClinGen Ensembl
TCGA novel	232	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387452977 rs1593733871	234	P>H		No	ClinGen Ensembl
CA6902484 rs771796311	236	E>D		No	ClinGen ExAC gnomAD
CA387452929 rs932918218	240	D>E		No	ClinGen TOPMed gnomAD
rs763164370 CA387452930	240	D>G		No	ClinGen ExAC gnomAD
CA6902483 rs763164370	240	D>V		No	ClinGen ExAC gnomAD
rs769893223 CA6902481	245	P>S		No	ClinGen ExAC gnomAD
rs1364376193 CA387452867	249	M>I		No	ClinGen TOPMed
rs746004991 CA6902480	249	M>V		No	ClinGen ExAC gnomAD
TCGA novel	258	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395820312 CA387452754	262	P>L		No	ClinGen gnomAD
rs1325365259 CA387452745	264	R>C		No	ClinGen gnomAD
rs1459928831 CA387452744	264	R>H		No	ClinGen gnomAD
CA387452724 rs1410168122	267	Q>R		No	ClinGen gnomAD
rs200637696 CA246437901	270	T>A		No	ClinGen 1000Genomes TOPMed
rs200637696 CA387452706	270	T>S		No	ClinGen 1000Genomes TOPMed
rs772687889 CA6902452	275	Y>C		No	ClinGen ExAC gnomAD
rs748564072 CA6902451	276	A>T		No	ClinGen ExAC gnomAD
rs754682901 CA6902449	278	R>*		No	ClinGen ExAC gnomAD
TCGA novel	280	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA246437851 rs930129239	281	A>G		No	ClinGen TOPMed
CA387452623 rs1285680929	282	L>P		No	ClinGen gnomAD
COSM137596 CA6902447 rs779618459	283	D>E	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs755687071 CA6902446	284	E>G		No	ClinGen ExAC gnomAD
rs1349456985 CA387452613	284	E>K		No	ClinGen gnomAD
CA387452581 rs1439270085	288	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs867658733 CA246437820	290	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1222386 rs1174051458 CA387452563	290	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	294	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA246437793 rs763745025	295	R>K		No	ClinGen ExAC TOPMed gnomAD
rs763745025 CA6902441	295	R>T		No	ClinGen ExAC TOPMed gnomAD
CA387452509 rs1455415292	298	R>G		No	ClinGen gnomAD
CA387452477 rs1348760787	302	E>G		No	ClinGen TOPMed
CA6902439 rs776787855	305	E>V		No	ClinGen ExAC gnomAD
rs1476974236 CA387452431	308	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1243380678 CA387452409	312	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	314	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387452383 rs1283425488	315	H>R		No	ClinGen gnomAD
TCGA novel	320	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6902434 rs748555505	321	R>K		No	ClinGen ExAC gnomAD
CA387452092 rs1204471822	325	M>I		No	ClinGen gnomAD
CA6902405 rs529891255	325	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs746518271 CA6902404	325	M>T		No	ClinGen ExAC gnomAD
rs938190479 CA246432988	327	R>C		No	ClinGen TOPMed
COSM3384752 rs1275173395 CA387452072	327	R>H	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA387452059 rs1277508665	328	Q>L		No	ClinGen TOPMed
CA387452009 rs1334514229	332	R>I		No	ClinGen gnomAD
CA6902401 rs752466806	333	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778803294 CA6902400	333	R>H		No	ClinGen ExAC TOPMed gnomAD
CA387451997 rs778803294	333	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	337	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450797175 CA387451908	340	Q>H		No	ClinGen TOPMed
rs767845246 CA6902397	340	Q>P		No	ClinGen ExAC gnomAD
rs199971874 CA246432937	341	E>*		No	ClinGen Ensembl
rs1461502191 CA387451877	343	Q>*		No	ClinGen gnomAD
CA6902394 rs200511924	345	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs763472108 CA6902393	350	L>P		No	ClinGen ExAC
rs755444083 CA6902375	354	E>A		No	ClinGen ExAC TOPMed gnomAD
rs935299961 CA246426172	355	E>K		No	ClinGen TOPMed
CA6902374 rs202174707	357	R>L		No	ClinGen 1000Genomes ExAC gnomAD
COSM945782 CA387450769 rs202174707	357	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1298624055 CA387450772	357	R>W		No	ClinGen TOPMed gnomAD
CA387450762 rs1157496743	358	R>Q		No	ClinGen TOPMed
rs78767665 CA246426162	358	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs759946269 CA6902373	359	R>C		No	ClinGen ExAC gnomAD
CA6902372 rs199997572	359	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA6902371 rs199997572	359	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387450711 rs1310003338	362	E>K		No	ClinGen gnomAD
rs1466021917 CA387450686	363	M>I		No	ClinGen gnomAD
rs1174621224 CA387450699	363	M>V		No	ClinGen gnomAD
rs1566001225 CA387450645	366	H>Q		No	ClinGen Ensembl
CA387450627 rs1376413802	368	E>Q		No	ClinGen TOPMed gnomAD
CA6902368 rs771545940	369	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA387450602 rs1445527704	369	Q>R		No	ClinGen TOPMed
rs747658545 CA6902367	373	R>W		No	ClinGen ExAC gnomAD
CA246426071 rs911349448 COSM314539	374	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs932901457 CA246426066	377	E>G		No	ClinGen TOPMed
rs749133445 CA6902364	378	G>D		No	ClinGen ExAC gnomAD
rs1300177728 CA387450424	378	G>S		No	ClinGen TOPMed gnomAD
CA6902363 rs779858168	381	P>A		No	ClinGen ExAC gnomAD
rs757439287 CA6902362	381	P>R		No	ClinGen ExAC gnomAD
rs747193240 CA6902361	382	N>S		No	ClinGen ExAC gnomAD
CA387450332 rs985690489	383	Y>C		No	ClinGen TOPMed gnomAD
CA246426054 rs985690489	383	Y>F		No	ClinGen TOPMed gnomAD
CA246426051 rs372707662	384	M>V		No	ClinGen ESP TOPMed
CA6902360 rs368454870	385	E>A		No	ClinGen ESP ExAC gnomAD
TCGA novel	385	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	386	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442262446 CA387450278	386	N>Y		No	ClinGen TOPMed
TCGA novel	388	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387447019 rs1293531902	388	E>K		No	ClinGen gnomAD
CA387447009 rs1274222620	389	Q>K		No	ClinGen TOPMed
CA387446988 rs1243536407	390	E>A		No	ClinGen gnomAD
rs769564509 CA6902343	391	M>T		No	ClinGen ExAC gnomAD
rs1339098881 CA387446975	391	M>V		No	ClinGen gnomAD
rs745644939 CA6902342	393	M>V		No	ClinGen ExAC gnomAD
CA6902341 rs778112265	396	M>L		No	ClinGen ExAC gnomAD
CA246414729 rs564996581	398	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs565929369 CA246414719	399	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA6902340 rs758589351	399	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	401	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162905131 CA387446826	403	N>K		No	ClinGen gnomAD
rs375228226 CA6902339	404	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6902317 rs749317754	406	D>G		No	ClinGen ExAC gnomAD
rs780662375 CA387455088	407	A>E		No	ClinGen ExAC gnomAD
CA6902316 rs780662375	407	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	410	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6902313 rs750827672	410	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs781645678 CA6902312	411	A>V		No	ClinGen ExAC gnomAD
CA387455028 rs1434392278	412	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA387455012 rs1328207264	413	A>V		No	ClinGen gnomAD
rs1399577289 CA387455000	414	G>A		No	ClinGen gnomAD
rs751190764 CA6902310	416	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	417	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763833198 CA6902309	417	G>D		No	ClinGen ExAC gnomAD
rs1156575915 CA387454963	417	G>S		No	ClinGen gnomAD
rs1425773723 CA387454947	418	P>L		No	ClinGen gnomAD
CA387454942 rs762581069	419	P>A		No	ClinGen ExAC TOPMed gnomAD
rs762581069 CA387454944	419	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6902308 rs762581069	419	P>T		No	ClinGen ExAC TOPMed gnomAD
rs752123742 CA6902307	420	P>T		No	ClinGen ExAC gnomAD
rs575185058 CA6902305	421	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs545363913 CA6902306	421	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA387454905 rs1487735255	422	M>T		No	ClinGen TOPMed gnomAD
CA387454897 rs776499795	423	G>R		No	ClinGen ExAC TOPMed gnomAD
rs776499795 CA6902304	423	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6902303 rs770645926	423	G>V		No	ClinGen ExAC
TCGA novel	425	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1593576239 CA387454873	425	N>H		No	ClinGen Ensembl
rs774616852 CA6902301	425	N>K		No	ClinGen ExAC gnomAD
CA246429918 rs760463468	425	N>S		No	ClinGen ExAC TOPMed gnomAD
rs760463468 CA6902302	425	N>T		No	ClinGen ExAC TOPMed gnomAD
CA6902300 rs768846532	426	M>V		No	ClinGen ExAC gnomAD
CA387454839 rs1416996693 COSM336446	427	N>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA6902298 rs779954661 CA6902299	428	N>K		No	ClinGen ExAC gnomAD
TCGA novel	429	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6902297 rs770352525	430	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs899492856 CA246429889	432	I>T		No	ClinGen TOPMed gnomAD
rs746298711 CA6902296	432	I>V		No	ClinGen ExAC gnomAD
rs781693189 CA6902295	433	P>A		No	ClinGen ExAC gnomAD
rs757762410 CA6902294	433	P>L		No	ClinGen ExAC TOPMed gnomAD
CA387454777 rs781693189	433	P>S		No	ClinGen ExAC gnomAD
rs777614978 CA6902292	435	P>Q		No	ClinGen ExAC gnomAD
rs777614978 CA387454754	435	P>R		No	ClinGen ExAC gnomAD
CA246429885 rs556798686	436	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6902291 rs556798686	436	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200516102 CA6902290	437	M>L		No	ClinGen ExAC TOPMed gnomAD
rs200516102 CA6902289	437	M>V		No	ClinGen ExAC TOPMed gnomAD
CA387454723 rs754947494	438	G>C		No	ClinGen ExAC TOPMed gnomAD
CA6902288 rs754947494	438	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6902286 rs766294091	439	P>L		No	ClinGen ExAC gnomAD
CA6902287 rs766294091	439	P>R		No	ClinGen ExAC gnomAD
CA6902285 rs760516498	441	P>L		No	ClinGen ExAC gnomAD
CA387454678 rs1421015103	442	A>D		No	ClinGen gnomAD
CA387454661 rs943724023 CA246429858	443	M>I		No	ClinGen TOPMed gnomAD
CA387454664 rs1593575969	443	M>R		No	ClinGen Ensembl
rs772963510 CA6902284	443	M>V		No	ClinGen ExAC TOPMed
CA387454646 rs535273248	444	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6902283 rs535273248	444	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1593575944 CA387454655	444	G>R		No	ClinGen Ensembl
CA6902280 rs574573285	448	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs555623518 CA6902277	449	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM182398 CA6902276 rs555623518	449	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6902274 rs758084462	450	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6902273 rs747690097	450	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6902271 rs754509690	451	M>T		No	ClinGen ExAC gnomAD
CA6902272 rs778623202	451	M>V		No	ClinGen ExAC TOPMed gnomAD
CA387454535 rs1312474526	453	T>I		No	ClinGen TOPMed gnomAD
rs753327193 CA6902270	454	P>L		No	ClinGen ExAC gnomAD
CA6902267 rs750237465	455	M>K		No	ClinGen ExAC gnomAD
rs756002635 CA6902268	455	M>V		No	ClinGen ExAC gnomAD
rs767154886 CA6902266	457	P>A		No	ClinGen ExAC gnomAD
CA6902265 rs763237637	458	D>E		No	ClinGen ExAC gnomAD
rs775640459 CA6902264	462	V>A		No	ClinGen ExAC gnomAD
CA387454432 rs1413569814	462	V>M		No	ClinGen gnomAD
rs569424157 CA6902254	463	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA387454253 rs1463638871	464	N>S		No	ClinGen TOPMed
rs748830760 CA6902253	465	D>N		No	ClinGen ExAC
rs1438344678 CA387454223	466	R>I		No	ClinGen gnomAD
TCGA novel	466	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779486816 CA6902252	467	F>L		No	ClinGen ExAC gnomAD
CA387454209 rs1255276449	467	F>Y		No	ClinGen gnomAD
rs756055881 CA6902251	468	P>L		No	ClinGen ExAC TOPMed
CA387454173 rs1191823446	470	G>E		No	ClinGen TOPMed gnomAD
rs1191823446 CA387454170	470	G>V		No	ClinGen TOPMed gnomAD
CA387454162 rs1245199533	471	P>R		No	ClinGen gnomAD
CA6902250 rs750290447	471	P>S		No	ClinGen ExAC gnomAD
CA6902248 rs757058064	474	Q>R		No	ClinGen ExAC gnomAD
rs751347194 CA6902247	475	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6902246 rs765415295	476	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1182662648 CA387454089	477	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6902245 rs759790653	477	S>T		No	ClinGen ExAC gnomAD
CA6902244 rs753980780	478	P>S		No	ClinGen ExAC gnomAD
CA6902243 rs766502404	479	M>I		No	ClinGen ExAC gnomAD
CA6902242 rs760832662	480	G>R		No	ClinGen ExAC gnomAD
rs773651748 CA6902241	481	S>N		No	ClinGen ExAC gnomAD
rs1401411917 CA387454038	482	R>G		No	ClinGen gnomAD
CA387454034 rs1196855912	482	R>K		No	ClinGen TOPMed
TCGA novel	482	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387454020 rs1253233079	483	T>K		No	ClinGen TOPMed
rs762128563 CA6902239	484	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	484	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	484	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387453998 rs1418462861	485	S>C		No	ClinGen gnomAD
rs748879723 CA6902236	488	P>H		No	ClinGen ExAC gnomAD
CA6902237 rs370436337	488	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370436337 CA6902238	488	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM322875 CA6902235 rs779539839	490	A>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6902234 rs547972947	491	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs3852596 CA6902233	492	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6902232 rs3852596	492	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6902230 rs376973396	493	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1215605502 CA387453902	493	S>R		No	ClinGen gnomAD
rs755257671 CA6902227	495	V>A		No	ClinGen ExAC gnomAD
rs777567526 CA6902228	495	V>I		No	ClinGen ExAC gnomAD
CA6902225 rs766696722	496	G>S		No	ClinGen ExAC
CA387453863 rs1220137304	497	P>R		No	ClinGen gnomAD
rs760889944 CA387453866	497	P>S		No	ClinGen ExAC TOPMed gnomAD
rs760889944 CA6902224	497	P>T		No	ClinGen ExAC TOPMed gnomAD
CA246428922 rs374688435	499	S>N		No	ClinGen ESP
CA387453846 rs1298035153	499	S>R		No	ClinGen gnomAD
CA6902222 rs767943977	501	G>D		No	ClinGen ExAC gnomAD
CA387453818 rs1398539854	501	G>S		No	ClinGen gnomAD
CA387453812 rs767943977	501	G>V		No	ClinGen ExAC gnomAD
rs1457086196 CA387453809	502	P>A		No	ClinGen TOPMed
CA6902220 rs762335907	504	G>A		No	ClinGen ExAC gnomAD
CA387453765 rs1376035465	505	F>S		No	ClinGen gnomAD
rs768940357 CA6902218	506	G>D		No	ClinGen ExAC gnomAD
rs763295856 CA6902217	508	G>R		No	ClinGen ExAC gnomAD
rs1291481258 CA387453716	509	S>N		No	ClinGen TOPMed
CA387453692 rs1191689253	511	G>E		No	ClinGen gnomAD
rs1257955022 CA387453682	512	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs371456102 CA6902216	512	G>S		No	ClinGen ESP ExAC gnomAD
TCGA novel	513	N>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	514	F>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387453657 rs1364072401	514	F>V		No	ClinGen TOPMed
CA387453620 rs1482870848	516	G>A		No	ClinGen gnomAD
rs1318239376 CA387453593	518	N>K		No	ClinGen gnomAD
rs745410363 CA6902213	518	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1284432854 CA387453572	520	R>C		No	ClinGen TOPMed
CA387453568 rs1277188228 COSM1128400	520	R>H	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1216356432 CA387453561	521	R>C		No	ClinGen TOPMed gnomAD
COSM1365698 rs780711402 CA6902212	521	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6902210 rs746898677	522	R>K		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q8WXF1

5 regional properties for Q8WXF1

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	82 - 154	IPR000504-1
domain	RNA recognition motif domain	156 - 237	IPR000504-2
domain	NOPS	229 - 280	IPR012975
domain	PSP1, RNA recognition motif 1	81 - 151	IPR034522
domain	PSP1, RNA recognition motif 2	157 - 236	IPR034523

Functions

		Description
EC Number
Subcellular Localization	Nucleus speckle Nucleus, nucleolus Nucleus matrix Cytoplasm	In punctate subnuclear structures often located adjacent to splicing speckles, called paraspeckles (PubMed:11790299, PubMed:16148043) Colocalizes with NONO and SFPQ in paraspeckles and perinucleolar caps in an RNA-dependent manner (PubMed:11790299, PubMed:16148043) May cycle between paraspeckles and nucleolus (PubMed:11790299) In telophase, when daughter nuclei form, localizes to perinucleolar caps (PubMed:11790299)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
nuclear matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
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.
paraspeckles	Discrete subnuclear bodies in the interchromatin nucleoplasmic space, often located adjacent to nuclear specks. 10-20 paraspeckles are typically found in human cell nuclei.

1 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.

6 GO annotations of biological process

Name	Definition
activation of innate immune response	Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
regulation of circadian rhythm	Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
rhythmic process	Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8R326	Pspc1	Paraspeckle component 1	Mus musculus (Mouse)	PR
Q4KLH4	Pspc1	Paraspeckle component 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MMLRGNLKQV	RIEKNPARLR	ALESAVGESE	PAAAAAMALA	LAGEPAPPAP	APPEDHPDEE
70	80	90	100	110	120
MGFTIDIKSF	LKPGEKTYTQ	RCRLFVGNLP	TDITEEDFKR	LFERYGEPSE	VFINRDRGFG
130	140	150	160	170	180
FIRLESRTLA	EIAKAELDGT	ILKSRPLRIR	FATHGAALTV	KNLSPVVSNE	LLEQAFSQFG
190	200	210	220	230	240
PVEKAVVVVD	DRGRATGKGF	VEFAAKPPAR	KALERCGDGA	FLLTTTPRPV	IVEPMEQFDD
250	260	270	280	290	300
EDGLPEKLMQ	KTQQYHKERE	QPPRFAQPGT	FEFEYASRWK	ALDEMEKQQR	EQVDRNIREA
310	320	330	340	350	360
KEKLEAEMEA	ARHEHQLMLM	RQDLMRRQEE	LRRLEELRNQ	ELQKRKQIQL	RHEEEHRRRE
370	380	390	400	410	420
EEMIRHREQE	ELRRQQEGFK	PNYMENREQE	MRMGDMGPRG	AINMGDAFSP	APAGNQGPPP
430	440	450	460	470	480
MMGMNMNNRA	TIPGPPMGPG	PAMGPEGAAN	MGTPMMPDNG	AVHNDRFPQG	PPSQMGSPMG
490	500	510	520
SRTGSETPQA	PMSGVGPVSG	GPGGFGRGSQ	GGNFEGPNKR	RRY