AiPD: Autoinhibited Protein Database

Q8WVV9

Gene name	HNRNPLL (HNRPLL, SRRF, BLOCK24)
Protein name	Heterogeneous nuclear ribonucleoprotein L-like
Names	hnRNPLL, Stromal RNA-regulating factor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:92906
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-94 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-94 (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

2 structures for Q8WVV9

Entry ID	Method	Resolution	Chain	Position	Source
7EVS	X-ray	160 A	A/B	166-268	PDB
AF-Q8WVV9-F1	Predicted				AlphaFoldDB

309 variants for Q8WVV9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1558552719	2	S>L		No	Ensembl
rs912262575 CA45568265	4	S>F		No	ClinGen gnomAD
rs935944336 CA346334062	5	S>C		No	ClinGen TOPMed gnomAD
rs935944336 CA45568242	5	S>F		No	ClinGen TOPMed gnomAD
rs777409709 CA1621314	5	S>P		No	ClinGen ExAC TOPMed gnomAD
rs935944336 CA346334064	5	S>Y		No	ClinGen TOPMed gnomAD
CA45568241 rs932467274	6	S>F		No	ClinGen Ensembl
rs1193943120 CA346334058	6	S>P		No	ClinGen gnomAD
rs752493519 CA1621312	8	P>A		No	ClinGen ExAC gnomAD
CA346334028 rs1221261988	8	P>R		No	ClinGen gnomAD
rs370953081 CA1621310	9	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA346334019 rs1238536810	9	R>K		No	ClinGen gnomAD
rs751549868 CA1621309	10	E>G		No	ClinGen ExAC gnomAD
CA1621308 rs34376380	11	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs867982857 CA45568207	12	Y>*		No	ClinGen Ensembl
CA45568215 rs868435917	12	Y>D		No	ClinGen Ensembl
rs1412420324 CA346333971	13	E>K		No	ClinGen TOPMed
rs1365716089 CA346333957	14	E>K		No	ClinGen gnomAD
rs1293118955 CA346333940	15	D>N		No	ClinGen TOPMed gnomAD
rs1435526379 CA346333918	16	R>L		No	ClinGen TOPMed gnomAD
rs1435526379 CA346333922	16	R>Q		No	ClinGen TOPMed gnomAD
rs763140437 CA1621307	16	R>W		No	ClinGen ExAC TOPMed
rs773498370 CA346333902	17	E>D		No	ClinGen ExAC TOPMed gnomAD
rs978039270 CA45568179	20	S>N		No	ClinGen Ensembl
rs1417778534 CA346333847	21	Q>R		No	ClinGen gnomAD
CA346333798 rs1422663049	25	L>F		No	ClinGen gnomAD
CA346333771 rs1190227721	27	T>A		No	ClinGen gnomAD
rs1475953643 CA346333763	27	T>I		No	ClinGen TOPMed gnomAD
CA346333745 rs1198914628	29	E>K		No	ClinGen TOPMed
CA346333714 rs866020503	30	G>E		No	ClinGen TOPMed gnomAD
CA45568173 rs866020503	30	G>V		No	ClinGen TOPMed gnomAD
rs776905093 CA1621303	32	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1621300 rs151266835	35	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1621298 rs748865606	37	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1279841573 CA346333588	37	E>V		No	ClinGen gnomAD
rs144672094 CA1621296	40	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346333496 rs1296153851	41	N>K		No	ClinGen TOPMed
CA346333492 rs1303322228	42	R>G		No	ClinGen gnomAD
rs1356876923 CA346333477	43	R>W		No	ClinGen gnomAD
CA45568137 rs867840024	46	T>R		No	ClinGen Ensembl
rs1174922308 CA346333412	46	T>S		No	ClinGen gnomAD
CA1621295 rs752506334	47	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1426309027 CA346333391	47	P>L		No	ClinGen gnomAD
CA45568111 rs752506334	47	P>S		No	ClinGen ExAC TOPMed gnomAD
CA346333388 rs1191914616	48	R>W		No	ClinGen TOPMed gnomAD
CA346333369 rs895287117	49	G>D		No	ClinGen gnomAD
CA346333383 rs1400514291	49	G>S		No	ClinGen TOPMed
CA45568087 rs895287117	49	G>V		No	ClinGen gnomAD
CA346333334 rs1184048542	50	G>E		No	ClinGen gnomAD
rs780814995 CA1621294	50	G>W		No	ClinGen ExAC gnomAD
CA1621293 rs571556070	51	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751487477 CA1621292	52	D>V		No	ClinGen ExAC TOPMed gnomAD
CA346333267 rs1205556912	53	G>D		No	ClinGen gnomAD
CA45568022 rs368933037	54	G>S		No	ClinGen Ensembl
rs547178507 CA1621291	55	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346333213 rs1236900168	56	G>C		No	ClinGen TOPMed
rs1216608754 CA346333164	58	R>L		No	ClinGen gnomAD
CA45568017 rs995689551	58	R>W		No	ClinGen TOPMed
CA45568013 rs78288295	59	S>G		No	ClinGen Ensembl
rs763117893 CA1621289	59	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1045432768 CA346333115	60	F>C		No	ClinGen TOPMed gnomAD
CA45568010 rs1045432768	60	F>Y		No	ClinGen TOPMed gnomAD
rs1037292191 CA45568000	61	S>F		No	ClinGen Ensembl
rs1397642487 CA346333082	62	Q>*		No	ClinGen gnomAD
CA346333074 rs1455326585	62	Q>P		No	ClinGen TOPMed
CA346333065 rs1376426310	63	P>L		No	ClinGen gnomAD
rs944080276 CA45598916	64	E>D		No	ClinGen TOPMed gnomAD
CA1621254 rs780031410	65	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1298084635 CA346340087	66	G>V		No	ClinGen gnomAD
CA1621253 rs758298197	68	S>C		No	ClinGen ExAC gnomAD
CA346340067 rs1572457261	69	H>Q		No	ClinGen Ensembl
CA346340070 rs1404359266	69	H>R		No	ClinGen TOPMed gnomAD
rs1281480223 CA346340071	69	H>Y		No	ClinGen TOPMed gnomAD
rs778921508 CA1621251	70	H>R		No	ClinGen ExAC gnomAD
CA1621252 rs745750618	70	H>Y		No	ClinGen ExAC gnomAD
CA1621250 rs757215824	71	K>T		No	ClinGen ExAC gnomAD
CA1621247 rs756368571	76	P>L		No	ClinGen ExAC gnomAD
CA1621248 rs756368571	76	P>R		No	ClinGen ExAC gnomAD
CA45598834 rs889887116	77	V>I		No	ClinGen gnomAD
CA1621244 rs759911825	78	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA346340012 rs1572457165	79	H>Y		No	ClinGen Ensembl
CA45598825 rs914166035	80	V>I		No	ClinGen TOPMed
TCGA novel	82	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1049907986 CA45598792	84	C>S		No	ClinGen TOPMed gnomAD
rs1220883812 CA346339975	85	E>*		No	ClinGen gnomAD
rs761212737 CA1621241	92	L>I		No	ClinGen ExAC gnomAD
rs760360255 CA1621238	93	V>M		No	ClinGen ExAC TOPMed gnomAD
CA346339908 rs771934966	95	A>E		No	ClinGen ExAC TOPMed gnomAD
CA1621236 rs771934966	95	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	97	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346339889 rs1263863764	98	K>R		No	ClinGen TOPMed
CA346339864 rs1167331802	102	I>V		No	ClinGen TOPMed gnomAD
CA346339615 rs1436963029	103	C>W		No	ClinGen gnomAD
rs769801828 CA1621211	106	M>L		No	ClinGen ExAC gnomAD
rs781381969 CA1621209	110	F>S		No	ClinGen ExAC gnomAD
rs755239916 CA1621208	119	E>G		No	ClinGen ExAC TOPMed gnomAD
CA346339492 rs1573744257	120	N>K		No	ClinGen Ensembl
CA1621207 rs751836899	121	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1225570247 CA346339479	122	D>E		No	ClinGen gnomAD
rs1370695049 CA346339469	124	A>S		No	ClinGen TOPMed
CA1621206 rs780421383	124	A>V		No	ClinGen ExAC gnomAD
CA346339451 rs1245342571	126	E>A		No	ClinGen gnomAD
rs1573744189 CA346339433	129	T>A		No	ClinGen Ensembl
rs750884655 CA1621204	132	A>V		No	ClinGen ExAC TOPMed gnomAD
CA45592489 rs750105071	133	D>V		No	ClinGen Ensembl
rs1214589397 CA346339398	134	E>G		No	ClinGen gnomAD
rs760256086 CA1621202	135	P>R		No	ClinGen ExAC gnomAD
rs994588851 CA346339388	136	V>L		No	ClinGen gnomAD
rs994588851 CA45592459	136	V>M		No	ClinGen gnomAD
CA1621200 rs571147779	137	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA346339364 rs1281112246	140	G>S		No	ClinGen gnomAD
rs1404296319 CA346339349	142	Q>E		No	ClinGen gnomAD
CA45592446 rs559272588	145	F>L		No	ClinGen Ensembl
CA1621198 rs377705288	148	S>C		No	ClinGen ESP ExAC gnomAD
rs1396328198 CA346339089	158	N>T		No	ClinGen TOPMed
rs773133460 CA346339082	159	T>I		No	ClinGen ExAC TOPMed gnomAD
CA346339083 rs773133460	159	T>N		No	ClinGen ExAC TOPMed gnomAD
rs773133460 CA1621195	159	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1176124784 CA346339061	162	P>L		No	ClinGen TOPMed gnomAD
CA1621194 rs373372529	163	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	163	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1621193 rs748207410	164	G>A		No	ClinGen ExAC gnomAD
rs143675691 CA1621192	167	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs768647249 CA1621191	171	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	171	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147915360 CA45592316	173	I>V		No	ClinGen ESP TOPMed gnomAD
CA1621188 rs779130914	176	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779130914 CA346338974	176	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1280020338 CA346338952	180	I>V		No	ClinGen gnomAD
rs1477110409 CA346338938	182	V>L		No	ClinGen TOPMed
CA346338912 rs1296776902	184	V>A		No	ClinGen TOPMed gnomAD
rs531585258 CA1621169	184	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs140773144 CA1621167	186	Y>C		No	ClinGen ESP ExAC gnomAD
CA346338894 rs1167454031	187	T>A		No	ClinGen gnomAD
TCGA novel	189	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1384680310 CA346338825	197	R>C		No	ClinGen gnomAD
rs183955948 CA45590296	200	I>T		No	ClinGen 1000Genomes gnomAD
rs1179557809 CA346338806	200	I>V		No	ClinGen gnomAD
TCGA novel	201	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779381813 CA1621166	201	F>V		No	ClinGen ExAC gnomAD
rs1193888971 CA346338776	204	N>S		No	ClinGen gnomAD
CA1621165 rs757719424	205	G>R		No	ClinGen ExAC gnomAD
rs17856242 CA45590262	210	V>L		No	ClinGen Ensembl
rs1258586699 CA346338688	213	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	215	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346338635 rs1253605677	221	A>G		No	ClinGen TOPMed
rs1303830695 CA346338611	224	A>V		No	ClinGen gnomAD
rs781094191 CA45587927	225	L>F		No	ClinGen Ensembl
CA45587919 rs781094191	225	L>I		No	ClinGen Ensembl
CA1621147 rs749739482	226	N>S		No	ClinGen ExAC gnomAD
CA346338574 rs1299292619	230	I>T		No	ClinGen gnomAD
CA1621146 rs778332780	232	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1621145 rs369142294	236	T>P		No	ClinGen ESP ExAC gnomAD
TCGA novel	239	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376506009 CA1621142	239	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs117385826 CA1621141	241	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1479304497 CA346338504	241	Y>H		No	ClinGen gnomAD
CA1621140 rs778538316	243	R>W		No	ClinGen ExAC gnomAD
rs771501973	244	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs745446803 CA1621123	245	T>A		No	ClinGen ExAC TOPMed gnomAD
rs778522057 CA1621122	245	T>I		No	ClinGen ExAC gnomAD
rs756950536 CA1621121	246	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1621120 rs201857398	250	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1444532545 CA346338415 COSM477391	253	D>G	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1621119 rs777383390	254	N>S		No	ClinGen ExAC TOPMed gnomAD
rs755951753 CA1621118	256	S>I		No	ClinGen ExAC gnomAD
CA346338389 rs1452171877	257	W>R		No	ClinGen gnomAD
rs1405145354 CA346338360	260	T>S		No	ClinGen gnomAD
rs1331750923 CA346338357	261	K>E		No	ClinGen TOPMed gnomAD
COSM721034 rs752512010 CA1621117	262	P>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346338348 rs1411410901	262	P>S		No	ClinGen gnomAD
CA346338340 rs1472844186	263	Y>C		No	ClinGen gnomAD
CA346338331 rs1181435907	264	L>F		No	ClinGen gnomAD
rs546549191 CA1621115	265	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346338317 rs1233425058	267	R>*		No	ClinGen TOPMed
TCGA novel	267	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751741171 CA1621114	267	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	268	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1573732507 CA346338178	271	K>R		No	ClinGen Ensembl
rs201793133 CA1621082	272	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1362100273 CA346338170	272	G>V		No	ClinGen gnomAD
CA1621081 rs769538008	273	R>C		No	ClinGen ExAC gnomAD
rs747866161 CA1621080	273	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781098678 CA1621079	274	Q>H		No	ClinGen ExAC gnomAD
CA1621078 rs754847535	275	R>G		No	ClinGen ExAC gnomAD
CA346338151 rs1471164058	276	Q>K		No	ClinGen gnomAD
CA346338138 rs1427636811	278	I>L		No	ClinGen gnomAD
rs1421794824 CA346338111	281	E>D		No	ClinGen gnomAD
rs1238270554 CA346338083	286	F>L		No	ClinGen TOPMed gnomAD
CA346338072 rs1205799316	287	R>I		No	ClinGen TOPMed gnomAD
CA346338073 rs1205799316	287	R>T		No	ClinGen TOPMed gnomAD
rs757538544 CA1621072	288	H>P		No	ClinGen ExAC TOPMed gnomAD
rs757538544 CA346338066	288	H>R		No	ClinGen ExAC TOPMed gnomAD
CA1621071 rs754089876	289	D>V		No	ClinGen ExAC gnomAD
CA346338053 rs1377025635	290	G>S		No	ClinGen TOPMed
CA346338050 rs1397856120	290	G>V		No	ClinGen TOPMed
CA1621069 rs761032016	291	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1480251973 CA346337981	299	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA346337965 rs1481434300	301	P>R		No	ClinGen TOPMed
CA1621037 rs771793093	303	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745768434 CA1621036	303	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774169128 CA1621035	305	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1160650343 CA346337932	306	M>I		No	ClinGen TOPMed
CA45578739 rs958788256	306	M>T		No	ClinGen gnomAD
CA346337927 rs1166474299	307	G>D		No	ClinGen gnomAD
CA346337916 rs1305266521	309	R>Q		No	ClinGen gnomAD
TCGA novel	310	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346337912 rs1391138553	310	D>H		No	ClinGen gnomAD
CA346337900 rs1346719202	311	T>I		No	ClinGen gnomAD
TCGA novel	312	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1621031 rs756370435	314	L>I		No	ClinGen ExAC gnomAD
rs900020582 CA45578705	318	P>L		No	ClinGen TOPMed
rs781575334 CA1621029	322	A>P		No	ClinGen ExAC gnomAD
CA346337823 rs1365365179	323	S>F		No	ClinGen gnomAD
rs755316109 CA1621028	325	S>F		No	ClinGen ExAC gnomAD
CA1621026 rs766858328	326	Y>H		No	ClinGen ExAC gnomAD
CA346337803 rs1558532350 COSM3364738	327	M>V	kidney upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA1621023 rs763806161	330	G>R		No	ClinGen ExAC gnomAD
CA1621022 rs760362290	332	P>L		No	ClinGen ExAC gnomAD
CA1621021 rs775026602	337	V>L		No	ClinGen ExAC gnomAD
CA1621020 rs767284751	340	S>G		No	ClinGen ExAC gnomAD
rs1238794229 CA346337717	340	S>N		No	ClinGen gnomAD
CA346337716 rs1238794229	340	S>T		No	ClinGen gnomAD
rs1222209155 CA346337657	348	N>S		No	ClinGen gnomAD
rs749336729 CA1621016	354	N>S		No	ClinGen ExAC gnomAD
TCGA novel	364	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346337543 rs1358384619	364	K>T		No	ClinGen TOPMed
TCGA novel	366	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	370	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762830270 CA1620997	371	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1343154442 CA346337295	372	P>A		No	ClinGen TOPMed gnomAD
rs906363736 CA45575345	373	G>A		No	ClinGen Ensembl
CA346337271 rs1558530257	376	L>P		No	ClinGen Ensembl
rs769801749 CA1620995	376	L>V		No	ClinGen ExAC gnomAD
CA346337251 rs1417764813	379	M>R		No	ClinGen TOPMed
CA1620994 rs761869097	381	D>E		No	ClinGen ExAC TOPMed
rs1337604188 CA346337132	396	K>T		No	ClinGen gnomAD
TCGA novel	399	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1044837527 CA45575323	400	K>R		No	ClinGen gnomAD
rs1327280022 CA346337090	402	L>V		No	ClinGen TOPMed gnomAD
rs573338738 CA45575318	403	N>S		No	ClinGen 1000Genomes gnomAD
rs142463240 CA1620974	406	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs761933978 CA1620973	409	Q>*		No	ClinGen ExAC gnomAD
CA1620971 rs768814425	410	H>N		No	ClinGen ExAC TOPMed gnomAD
rs760762346 CA346337023	410	H>Q		No	ClinGen ExAC gnomAD
CA346337026 rs1411894978	410	H>R		No	ClinGen gnomAD
CA1620972 rs768814425	410	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA346337017 rs1259227536	411	S>*		No	ClinGen TOPMed
CA45574890 rs989747207	412	V>F		No	ClinGen gnomAD
CA346336998 rs1558529872	415	S>G		No	ClinGen Ensembl
rs746301417 CA1620967	415	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1620966 rs779540290	421	E>*		No	ClinGen ExAC gnomAD
CA346336953 rs1286558693	421	E>V		No	ClinGen gnomAD
CA1620963 rs201359399	426	S>N		No	ClinGen 1000Genomes ExAC
TCGA novel	428	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs528598711 CA1620960	432	M>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	436	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435080754 CA346336832	437	R>H		No	ClinGen gnomAD
CA346336802 rs1192274309	441	A>V		No	ClinGen TOPMed
TCGA novel	442	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1620958 rs750272113	445	S>C		No	ClinGen ExAC gnomAD
rs1177839090 CA346336733	451	P>L		No	ClinGen gnomAD
rs1244070600 CA346336687	458	Y>C		No	ClinGen gnomAD
CA346336678 rs1373667313	459	Y>C		No	ClinGen TOPMed
rs1267220455 CA346336667	461	V>I		No	ClinGen gnomAD
rs140798886 COSM107735 CA45574783	462	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs759947677 CA1620950	464	C>R		No	ClinGen ExAC gnomAD
rs754343521 CA1620949	466	T>K		No	ClinGen ExAC gnomAD
rs1271641626 CA346336593	468	E>Q		No	ClinGen gnomAD
CA346336577 rs1219242053	469	T>S		No	ClinGen gnomAD
rs1337828229 CA346336555	471	T>R		No	ClinGen gnomAD
rs1181626565 CA346336552	472	K>E		No	ClinGen Ensembl
CA346336463 rs1440012990	474	C>F		No	ClinGen TOPMed
rs1446292148 CA346336436	476	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	476	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763439144 CA1620928	477	H>Y		No	ClinGen ExAC gnomAD
CA346336400 rs1331719915	480	L>F		No	ClinGen TOPMed
rs770378810 CA1620926	481	T>K		No	ClinGen ExAC TOPMed gnomAD
rs770378810 CA346336389	481	T>R		No	ClinGen ExAC TOPMed gnomAD
rs746496249 CA1620925	482	F>L		No	ClinGen ExAC gnomAD
rs374014442 CA1620921	483	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1620923 rs200810217	483	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1620922 rs200810217	483	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1620924 rs774945614	483	I>V		No	ClinGen ExAC gnomAD
CA1620920 rs756999172	484	K>E		No	ClinGen ExAC gnomAD
rs1224633389 CA346336286	490	A>V		No	ClinGen TOPMed gnomAD
CA346336240 rs1354991072	492	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1376176575 CA346336270	492	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1620903 rs771506090	493	S>L		No	ClinGen ExAC gnomAD
rs1285299318 CA346336198	497	L>I		No	ClinGen gnomAD
CA346336150 rs1454169605	502	E>K		No	ClinGen gnomAD
CA346336128 rs1410627318	503	W>*		No	ClinGen TOPMed
rs770667012 CA1620900	507	T>A		No	ClinGen ExAC gnomAD
rs748923432 CA1620899	507	T>I		No	ClinGen ExAC TOPMed gnomAD
rs748923432 CA346336087	507	T>S		No	ClinGen ExAC TOPMed gnomAD
CA1620897 rs769722664	508	D>E		No	ClinGen ExAC gnomAD
rs748030288 CA1620896	510	V>I		No	ClinGen ExAC gnomAD
rs781342208 CA1620894	514	T>M		No	ClinGen ExAC TOPMed gnomAD
CA346336040 rs1205353035	515	A>V		No	ClinGen gnomAD
CA346336012 rs1487079226	519	Y>C		No	ClinGen gnomAD
CA1620892 rs751705724	520	Q>H		No	ClinGen ExAC gnomAD
rs138662849	524	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM1020821 CA1620891 rs780103102	524	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346335482 rs1360076673	530	Y>C		No	ClinGen gnomAD
CA1620869 rs780137207	531	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1620866 rs779174502	533	K>E		No	ClinGen ExAC gnomAD
CA346335448 rs1285760199	535	C>*		No	ClinGen gnomAD
CA1620865 rs376909218	535	C>F		No	ClinGen ESP ExAC gnomAD
CA346335420 rs1339810228	540	S>A		No	ClinGen gnomAD

No associated diseases with Q8WVV9

8 regional properties for Q8WVV9

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	76 - 150	IPR000504-1
domain	RNA recognition motif domain	167 - 240	IPR000504-2
domain	RNA recognition motif domain	335 - 409	IPR000504-3
domain	PTBP1-like, RNA recognition motif 2	165 - 243	IPR021790
domain	hnRPLL, RNA recognition motif 3	336 - 409	IPR034983
domain	hnRPLL, RNA recognition motif 1	73 - 156	IPR034985
domain	hnRPLL, RNA recognition motif 2	165 - 260	IPR034986
domain	hnRPLL, RNA recognition motif 4	452 - 536	IPR034987

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
ribonucleoprotein complex	A macromolecular complex that contains both RNA and protein molecules.

2 GO annotations of molecular function

Name	Definition
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
RNA binding	Binding to an RNA molecule or a portion thereof.

3 GO annotations of biological process

Name	Definition
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 RNA splicing	Any process that activates or increases the frequency, rate or extent of RNA splicing.
regulation of RNA splicing	Any process that modulates the frequency, rate or extent of 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.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P26599	PTBP1	Polypyrimidine tract-binding protein 1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MSSSSSSPRE	TYEEDREYES	QAKRLKTEEG	EIDYSAEEGE	NRREATPRGG	GDGGGGGRSF
70	80	90	100	110	120
SQPEAGGSHH	KVSVSPVVHV	RGLCESVVEA	DLVEALEKFG	TICYVMMMPF	KRQALVEFEN
130	140	150	160	170	180
IDSAKECVTF	AADEPVYIAG	QQAFFNYSTS	KRITRPGNTD	DPSGGNKVLL	LSIQNPLYPI
190	200	210	220	230	240
TVDVLYTVCN	PVGKVQRIVI	FKRNGIQAMV	EFESVLCAQK	AKAALNGADI	YAGCCTLKIE
250	260	270	280	290	300
YARPTRLNVI	RNDNDSWDYT	KPYLGRRDRG	KGRQRQAILG	EHPSSFRHDG	YGSHGPLLPL
310	320	330	340	350	360
PSRYRMGSRD	TPELVAYPLP	QASSSYMHGG	NPSGSVVMVS	GLHQLKMNCS	RVFNLFCLYG
370	380	390	400	410	420
NIEKVKFMKT	IPGTALVEMG	DEYAVERAVT	HLNNVKLFGK	RLNVCVSKQH	SVVPSQIFEL
430	440	450	460	470	480
EDGTSSYKDF	AMSKNNRFTS	AGQASKNIIQ	PPSCVLHYYN	VPLCVTEETF	TKLCNDHEVL
490	500	510	520	530	540
TFIKYKVFDA	KPSAKTLSGL	LEWECKTDAV	EALTALNHYQ	IRVPNGSNPY	TLKLCFSTSS

HL