AiPD: Autoinhibited Protein Database

Q5VWX1

Gene name	KHDRBS2 (SLM1)
Protein name	KH domain-containing, RNA-binding, signal transduction-associated protein 2
Names	Sam68-like mammalian protein 1, SLM-1, hSLM-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:202559
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

71-142 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

71-142 (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 Q5VWX1

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5VWX1-F1	Predicted				AlphaFoldDB

332 variants for Q5VWX1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1485369570	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3874620 rs774551671	3	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1245969604 CA364382383	7	L>F		No	ClinGen gnomAD
rs773325079 CA3874617	7	L>S		No	ClinGen ExAC gnomAD
CA364382381 rs1341445142	8	P>A		No	ClinGen gnomAD
CA364382377 rs1315326518	8	P>L		No	ClinGen gnomAD
CA364382364 rs1585630167	10	L>R		No	ClinGen Ensembl
CA3874614 rs781047406	11	M>T		No	ClinGen ExAC TOPMed gnomAD
CA3874613 rs373201378	12	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373201378 CA364382355	12	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	14	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313241072 CA364382329	15	D>E		No	ClinGen TOPMed
CA3874611 rs779657644	15	D>Y		No	ClinGen ExAC gnomAD
CA364382324 rs1585629972	16	S>N		No	ClinGen Ensembl
rs369920574 CA3874609	16	S>R		No	ClinGen ESP ExAC gnomAD
CA140083115 rs867770141	18	D>N		No	ClinGen TOPMed gnomAD
CA140083114 rs946781605	20	S>P		No	ClinGen TOPMed
CA3874607 rs756485317	21	F>S		No	ClinGen ExAC gnomAD
CA3874606 rs149952608	22	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA364382281 rs201690272	23	H>L		No	ClinGen gnomAD
CA140083113 rs201690272	23	H>R		No	ClinGen gnomAD
rs372434154 COSM123894 CA3874605	24	A>V	upper_aerodigestive_tract large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1265825375 CA364382269	25	S>W		No	ClinGen TOPMed
CA364382264 rs1458073424	26	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1225643314 CA364382265	26	R>S		No	ClinGen gnomAD
CA140083111 rs368617674	29	A>T		No	ClinGen TOPMed gnomAD
rs1200870090 CA364382205	33	E>G		No	ClinGen gnomAD
rs1262684003 CA364382199	34	K>*		No	ClinGen gnomAD
CA140073260 rs374378198	34	K>N		No	ClinGen ESP TOPMed gnomAD
CA3874579 rs776390776	35	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1238217921 CA364382186	36	Q>K		No	ClinGen gnomAD
rs148769298 CA364382178	37	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3874576 rs775435233	37	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3874577 rs148769298	37	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1450102892 CA364382167	39	D>Y		No	ClinGen TOPMed gnomAD
CA364382161 rs771921548 CA3874575	40	G>R		No	ClinGen ExAC TOPMed
CA364382156 rs1328586879	41	K>E		No	ClinGen TOPMed
TCGA novel	42	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3874574 rs563688261	44	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3874572 COSM1080902 rs371176770	45	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3874570 rs777596237	49	Y>C		No	ClinGen ExAC gnomAD
rs542410649 CA364382094	49	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3874571 rs542410649	49	Y>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1157533905 CA364382068	53	I>V		No	ClinGen gnomAD
TCGA novel	54	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1439808380 CA364382054	54	S>R		No	ClinGen gnomAD
CA3874569 rs755300753	56	K>E		No	ClinGen ExAC gnomAD
rs1181067857 CA364382028	58	I>L		No	ClinGen gnomAD
CA364382029 rs1181067857	58	I>V		No	ClinGen gnomAD
COSM107348 rs140624162 CA140073258	60	L>F	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs140624162 CA3874566	60	L>V		No	ClinGen ExAC TOPMed gnomAD
CA364382004 rs1385947886	62	E>Q		No	ClinGen gnomAD
CA364381986 rs1476015282	64	V>G		No	ClinGen TOPMed
CA140073257 rs981185805	64	V>I		No	ClinGen TOPMed
rs981185805 CA364381990	64	V>L		No	ClinGen TOPMed
rs1282453298 COSM1445536 CA364381968	67	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1354505629 CA364381966	68	V>L		No	ClinGen gnomAD
CA364381951 rs1457804038	70	Q>*		No	ClinGen TOPMed
CA364381946 rs6921170	70	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364381926 CA3874559 COSM1080896 rs760464255	73	K>N	ovary endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3874560 rs764306609	73	K>R		No	ClinGen ExAC gnomAD
rs1225464367 CA364381905	75	N>H		No	ClinGen TOPMed
CA3874540 rs371874807	77	V>L		No	ClinGen ESP ExAC gnomAD
rs759403551 CA3874538	79	K>R		No	ClinGen ExAC gnomAD
rs200001332 CA3874537	82	G>E		No	ClinGen ExAC gnomAD
CA3874536 rs766429987	83	P>Q		No	ClinGen ExAC gnomAD
CA3874534 rs772921509	85	G>A		No	ClinGen ExAC gnomAD
TCGA novel	86	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	87	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	88	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560896225 CA3874532 COSM484280	89	K>R	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1218840440 CA364381809	90	R>G		No	ClinGen gnomAD
CA364381794 rs1481131108	92	Q>P		No	ClinGen TOPMed
CA3874530 rs772285432	97	A>D		No	ClinGen ExAC
CA140059533 rs553850498 CA364381742	99	M>I		No	ClinGen gnomAD
CA3874527 rs746237096	99	M>R		No	ClinGen ExAC TOPMed gnomAD
rs746237096 CA364381744	99	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	100	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	103	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	105	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3874525 rs757821420	105	G>R		No	ClinGen ExAC gnomAD
CA140059532 rs374892804	107	M>V		No	ClinGen ESP
CA364381678 rs1426001586	109	D>E		No	ClinGen TOPMed gnomAD
rs749368602 CA3874523	109	D>N		No	ClinGen ExAC gnomAD
rs140340675 CA140059531	109	D>V		No	ClinGen ESP
CA3874522 rs777759079	110	K>T		No	ClinGen ExAC gnomAD
rs1417440572 CA364381627	114	E>D		No	ClinGen gnomAD
CA140053099 rs771401840	115	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3874507 rs774766236	115	E>K		No	ClinGen ExAC gnomAD
rs1441297110	115	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA364381608 rs1422339580	117	R>S		No	ClinGen TOPMed
rs202046023 CA140053098	119	S>G		No	ClinGen Ensembl
CA364381597 rs1164604634	119	S>N		No	ClinGen TOPMed
CA364381593 rs1583919345	119	S>R		No	ClinGen Ensembl
rs778371723 CA3874504	120	G>E		No	ClinGen ExAC gnomAD
rs778371723 CA364381588	120	G>V		No	ClinGen ExAC gnomAD
CA364381584 rs1212984652	121	E>G		No	ClinGen gnomAD
CA3874502 rs748271919	121	E>K		No	ClinGen ExAC TOPMed gnomAD
rs900037166 CA140053097	124	Y>C		No	ClinGen TOPMed gnomAD
CA364381556 rs865838310	125	A>D		No	ClinGen TOPMed
rs147166432 CA3874501	125	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA140053096 rs865838310	125	A>V		No	ClinGen TOPMed
CA3874498 rs780043623	130	E>D		No	ClinGen ExAC gnomAD
rs751366732 CA3874499	130	E>K		No	ClinGen ExAC
TCGA novel	133	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268184267 CA364381487	135	I>N		No	ClinGen TOPMed
CA3874495 rs765226399	137	V>M		No	ClinGen ExAC gnomAD
CA3874494 rs761171985	139	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1289013345 CA364381450	141	P>A		No	ClinGen TOPMed
rs1159172441 CA364381429	144	A>S		No	ClinGen gnomAD
rs1421480634 CA364381426	144	A>V		No	ClinGen gnomAD
CA140053095 rs944293894 COSM597370	146	S>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs760363356 CA3874491	147	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1424208139 CA364381408	147	R>H		No	ClinGen gnomAD
CA3874489 rs184612938	148	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM28346 CA3874488 rs771240471	150	H>Y	Variant assessed as Somatic; 0.0 impact. urinary_tract skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1421181881 CA364381380	151	A>V		No	ClinGen gnomAD
rs1244194809 CA364381362	154	E>K		No	ClinGen TOPMed
CA3874486 rs773529545	155	I>L		No	ClinGen ExAC gnomAD
TCGA novel	156	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	157	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	158	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364381279 rs1261194503	163	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs768815503 CA3874461	163	Y>C		No	ClinGen ExAC TOPMed gnomAD
COSM743385 rs868753597 CA140045608	166	E>K	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1423815231 CA364381253	167	I>V		No	ClinGen gnomAD
COSM1080890 CA140045607 rs868714236	168	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA3874460 rs747090449 COSM3411236	168	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs775798046 CA3874459	169	Q>R		No	ClinGen ExAC gnomAD
rs1237289698 CA364381215	173	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1346437128 CA364381210	173	R>H		No	ClinGen gnomAD
rs1452740737 CA364381196	175	L>F		No	ClinGen TOPMed gnomAD
rs1390110763 CA364381184	177	Y>C		No	ClinGen TOPMed gnomAD
rs1457602154 CA364381169	179	N>S		No	ClinGen TOPMed gnomAD
rs1258889534 CA364381160	180	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs71568779 CA3874456	182	E>K		No	ClinGen ExAC TOPMed
CA3874455 rs757121906	183	D>H		No	ClinGen ExAC gnomAD
TCGA novel	183	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342956710 CA364381137	184	S>A		No	ClinGen gnomAD
rs151269502 COSM106980 CA3874453	186	R>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3874452 rs202049443	186	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA364381125 rs202049443	186	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3874451 rs752257705	187	G>S		No	ClinGen ExAC gnomAD
CA364381118 rs1289917162	188	R>G		No	ClinGen gnomAD
rs1400843590 CA364381112	188	R>S		No	ClinGen gnomAD
rs1445698607 CA364381115	188	R>T		No	ClinGen gnomAD
CA3874450 rs187067762	189	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3874449 rs754696932	190	I>F		No	ClinGen ExAC gnomAD
rs750730165 CA3874448	190	I>S		No	ClinGen ExAC gnomAD
rs754696932 CA364381105	190	I>V		No	ClinGen ExAC gnomAD
CA364381086 rs1157629648	193	R>K		No	ClinGen Ensembl
CA364381083 rs1478741359	193	R>S		No	ClinGen gnomAD
CA3874446 rs377470580	197	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs377470580 CA3874444	197	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs377470580 CA3874445	197	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3874443 rs760826291	198	A>P		No	ClinGen ExAC gnomAD
rs775781768 CA3874442	199	P>A		No	ClinGen ExAC gnomAD
rs1239241307 CA364381049	199	P>R		No	ClinGen gnomAD
CA364381042 rs1562402281	200	T>I		No	ClinGen Ensembl
rs772156700 CA3874441	201	A>S		No	ClinGen ExAC gnomAD
rs112046465 CA140045605	201	A>V		No	ClinGen TOPMed
TCGA novel	204	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3874439 rs774463768	204	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	204	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3874417 rs200792688	206	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs751950650 CA140045005	206	R>H		No	ClinGen TOPMed gnomAD
CA140045004 COSM53522 rs751950650	206	R>L	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3874416 rs568880717	207	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA364380997 rs1161932642	207	G>R		No	ClinGen gnomAD
CA3874415 rs748027428	208	G>C		No	ClinGen ExAC gnomAD
CA3874414 rs781137192	208	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	208	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364380973 rs1324524333	211	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs139228211 CA3874411	213	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3874412 rs746515273	213	P>S		No	ClinGen ExAC TOPMed gnomAD
rs746515273 CA364380962	213	P>T		No	ClinGen ExAC TOPMed gnomAD
COSM2149925 rs778333402 CA3874408	214	P>L	Variant assessed as Somatic; 0.0001887 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3874405 rs373695594	215	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs753218806 CA3874406	215	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1315640637 CA364380940	217	G>E		No	ClinGen gnomAD
CA364380937 rs1277186373	218	R>*		No	ClinGen gnomAD
rs144346146 CA3874403	218	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3874401 rs763209117	219	G>R		No	ClinGen ExAC TOPMed gnomAD
rs763209117 CA364380934	219	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1363727004 CA364380926	220	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs773442637 CA3874400	220	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	221	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3874399 rs769537252	222	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3874396 rs149633424	222	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149633424 CA3874398	222	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149633424 CA3874397	222	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364380914 rs1463377443	223	P>S		No	ClinGen gnomAD
CA364380916 rs1463377443	223	P>T		No	ClinGen gnomAD
rs777332095 CA3874393	224	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777332095 CA140045002	224	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3874394 rs777332095	224	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3874395 rs142287079 COSM108237	224	R>W	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1408764252 CA364380906	225	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1421825330 CA364380898	226	S>I		No	ClinGen TOPMed gnomAD
CA3874391 rs369232177	226	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421825330 CA364380899	226	S>T		No	ClinGen TOPMed gnomAD
CA364380888 rs1374751167	228	V>G		No	ClinGen TOPMed
rs756483616 CA3874390	228	V>I		No	ClinGen ExAC gnomAD
CA3874389 rs748541382	229	T>A		No	ClinGen ExAC gnomAD
CA3874388 rs781718427	230	R>C		No	ClinGen ExAC gnomAD
COSM3411235 rs374827571 CA3874386	230	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3874385 rs374827571	230	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374827571 CA3874387	230	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3874384 rs201374549	232	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3874383 rs201374549	232	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	233	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	236	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364380850 rs1218148488 COSM1735085	236	P>S	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA364380839 rs1367474052	237	P>H		No	ClinGen gnomAD
rs1275969579 CA364380834	238	V>A		No	ClinGen gnomAD
rs776357295 CA3874380	239	A>T		No	ClinGen ExAC TOPMed gnomAD
CA364380824 rs760579776	240	R>K		No	ClinGen ExAC TOPMed gnomAD
CA3874378 rs760579776	240	R>T		No	ClinGen ExAC TOPMed gnomAD
CA3874377 rs775523045	241	G>S		No	ClinGen ExAC gnomAD
CA3874376 rs138330013	242	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1432676329 COSM743387 CA364380806	243	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs527455084 CA3874375	244	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs774092643 CA3874374	246	R>*		No	ClinGen ExAC TOPMed gnomAD
rs375752417 CA3874373	246	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs748511163 CA3874372	247	A>P		No	ClinGen ExAC TOPMed gnomAD
rs747431309 CA3874369	248	R>Q		No	ClinGen ExAC gnomAD
rs533736043 CA3874370	248	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1476947808 CA364380783	249	G>R		No	ClinGen TOPMed
TCGA novel	250	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758414467 CA364380776	250	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3874367 rs758414467	250	A>T		No	ClinGen ExAC TOPMed gnomAD
rs150391619 CA3874366	250	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3874364 rs757511992	251	P>L		No	ClinGen ExAC gnomAD
rs141947594 CA364380772	251	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141947594 CA3874365	251	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1448012911 CA364380764	252	T>I		No	ClinGen gnomAD
rs562494152 CA3874361	256	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
COSM1621853 CA3874360 rs760552067	257	R>S	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs192459786 CA3874359	258	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574426212 CA364380712	261	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs574426212 CA3874358	261	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3874357 rs372730652	262	P>S		No	ClinGen ESP ExAC gnomAD
rs774041203 CA3874356	263	A>S		No	ClinGen ExAC gnomAD
rs1393902630 CA364380701	263	A>V		No	ClinGen TOPMed gnomAD
CA364380699 rs1483289887	264	H>D		No	ClinGen gnomAD
CA364380693 rs1259055826	264	H>Q		No	ClinGen TOPMed gnomAD
CA364380697 rs1244015164	264	H>R		No	ClinGen TOPMed
rs1483289887 CA364380698	264	H>Y		No	ClinGen gnomAD
CA140045001 rs145043169	266	A>G		No	ClinGen ESP
rs1213619556 CA364380682	266	A>S		No	ClinGen gnomAD
CA364380657 rs1167981369	269	E>D		No	ClinGen gnomAD
CA364380663 rs1490814461	269	E>K		No	ClinGen TOPMed
rs779395142 CA3874325	271	G>D		No	ClinGen ExAC TOPMed gnomAD
CA364370836 rs1280926465	271	G>R		No	ClinGen gnomAD
rs1312906558 CA364370770	273	D>E		No	ClinGen gnomAD
CA364370782 rs1191575395	273	D>G		No	ClinGen TOPMed
CA364370727 rs1582471833	276	Y>H		No	ClinGen Ensembl
rs777832400 CA3874322	277	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3874323 rs777832400	277	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1383483098 CA364370684	278	G>D		No	ClinGen TOPMed
CA140030034 rs990322172	279	E>G		No	ClinGen TOPMed
rs201210770 CA3874320	280	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA3874321 rs756394171	280	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA364370617 rs1366184286	281	D>E		No	ClinGen TOPMed
COSM232601 CA3874318 rs570606503	281	D>N	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC
rs1471904267 CA364370554	284	T>A		No	ClinGen gnomAD
CA364370543 rs751505584	284	T>I		No	ClinGen ExAC gnomAD
CA3874317 rs751505584	284	T>N		No	ClinGen ExAC gnomAD
CA364370471 rs1486701265	288	Y>H		No	ClinGen gnomAD
rs1215884910 CA364370421	289	D>G		No	ClinGen gnomAD
CA364370397 rs749991022	291	S>C		No	ClinGen ExAC gnomAD
rs749991022 CA3874313	291	S>G		No	ClinGen ExAC gnomAD
CA3874312 rs764792507	292	Y>C		No	ClinGen ExAC gnomAD
CA3874309 rs201333575	293	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364370366 rs201333575	293	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3874310 rs776278021	293	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3874308 rs201333575	293	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3874305 rs749292989	294	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773403267 CA3874304	294	T>I		No	ClinGen ExAC gnomAD
rs111849427 CA3874302	296	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756884959 CA140030032	296	T>R		No	ClinGen Ensembl
rs1393944606 CA364370312	298	S>G		No	ClinGen gnomAD
CA364370304 rs867058525	298	S>I		No	ClinGen TOPMed
COSM743389 rs867058525 CA140030031	298	S>N	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1382268728 CA364365754	301	E>Q		No	ClinGen TOPMed
rs1242947412 CA364365715	303	Y>C		No	ClinGen TOPMed
CA364365709 rs1267481275	304	D>N		No	ClinGen TOPMed
rs61753608 CA3874281	305	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377093981 CA3874279	306	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778745140 CA3874277	306	G>D		No	ClinGen ExAC gnomAD
COSM1255516 rs377093981 CA3874278	306	G>S	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs756705584 CA3874276	307	H>R		No	ClinGen ExAC gnomAD
CA140026612 rs7449840 VAR_036885	308	G>A		No	ClinGen UniProt Ensembl dbSNP
CA3874275 rs540180752	309	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs370693821 CA140026611	309	V>I		No	ClinGen ESP
CA364365604 rs1204533532	313	A>S		No	ClinGen TOPMed gnomAD
CA364365610 rs1204533532	313	A>T		No	ClinGen TOPMed gnomAD
CA3874274 rs145615844	313	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61753607 CA140026610	314	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs61753607 CA3874273	314	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3874272 rs752309658	315	D>G		No	ClinGen ExAC gnomAD
CA364365589 rs1218019826	315	D>N		No	ClinGen TOPMed gnomAD
CA3874271 rs766702570	316	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs551423803	317	Y>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1450194320 CA364373008	318	A>G		No	ClinGen TOPMed
rs1297835688 CA364365551	318	A>T		No	ClinGen gnomAD
rs762468254 CA3874250	319	P>S		No	ClinGen ExAC gnomAD
CA3874248 rs542084033 COSM1445527	320	E>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs754410366 CA3874249	320	E>V		No	ClinGen ExAC gnomAD
CA140024959 rs760966278	322	W>G		No	ClinGen ExAC gnomAD
CA3874247 rs760966278 CA364372966	322	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775729892 CA3874246	325	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3874245 rs17853264	326	R>C	Variant assessed as Somatic; 0.0001853 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3874244 rs149758348	326	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149758348 CA140024949	326	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA140024953 rs17853264	326	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA140024944 rs111625311	327	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3874242 rs770838111	328	S>T		No	ClinGen ExAC gnomAD
rs1318888554 CA364372845	331	A>V		No	ClinGen gnomAD
CA3874240 rs777723610	332	P>T		No	ClinGen ExAC TOPMed gnomAD
rs61753606 CA3874239	333	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1582130117 CA364372779	336	S>L		No	ClinGen Ensembl
rs1366687820 CA364372775	337	A>P		No	ClinGen TOPMed
CA3874236 rs754655255	337	A>V		No	ClinGen ExAC TOPMed gnomAD
rs750786866 CA3874235	339	G>E		No	ClinGen ExAC TOPMed gnomAD
rs867233645 CA140024923	340	G>E		No	ClinGen Ensembl
CA364372738 CA3874232 rs139583671	340	G>R	Variant assessed as Somatic; 4.632e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA364372714 rs764718218	342	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1163838503 CA364372711	342	R>K		No	ClinGen gnomAD
CA364372702 rs1475247394	343	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA364372692 rs1419441849	343	E>V		No	ClinGen gnomAD
CA364372623 rs1465384102 COSM71286	348	R>I	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed

No associated diseases with Q5VWX1

4 regional properties for Q5VWX1

Type	Name	Position	InterPro Accession
domain	K Homology domain	58 - 156	IPR004087
domain	K Homology domain, type 1	62 - 121	IPR004088
domain	Sam68, tyrosine-rich domain	267 - 321	IPR032335
domain	KHDRBS, Qua1 domain	5 - 57	IPR032571

Functions

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

2 GO annotations of cellular component

Name	Definition
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.

5 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.
poly(A) binding	Binding to a sequence of adenylyl residues in an RNA molecule, such as the poly(A) tail, a sequence of adenylyl residues at the 3' end of eukaryotic mRNA.
poly(U) RNA binding	Binding to a sequence of uracil residues in an RNA molecule.
SH2 domain binding	Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.

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.
regulation of alternative mRNA splicing, via spliceosome	Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs.
regulation of mRNA splicing, via spliceosome	Any process that modulates the frequency, rate or extent of mRNA splicing via a spliceosomal mechanism.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07666	KHDRBS1	KH domain-containing, RNA-binding, signal transduction-associated protein 1	Homo sapiens (Human)	PR
Q60749	Khdrbs1	KH domain-containing, RNA-binding, signal transduction-associated protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEEEKYLPEL	MAEKDSLDPS	FVHASRLLAE	EIEKFQGSDG	KKEDEEKKYL	DVISNKNIKL
70	80	90	100	110	120
SERVLIPVKQ	YPKFNFVGKL	LGPRGNSLKR	LQEETGAKMS	ILGKGSMRDK	AKEEELRKSG
130	140	150	160	170	180
EAKYAHLSDE	LHVLIEVFAP	PGEAYSRMSH	ALEEIKKFLV	PDYNDEIRQE	QLRELSYLNG
190	200	210	220	230	240
SEDSGRGRGI	RGRGIRIAPT	APSRGRGGAI	PPPPPPGRGV	LTPRGSTVTR	GALPVPPVAR
250	260	270	280	290	300
GVPTPRARGA	PTVPGYRAPP	PPAHEAYEEY	GYDDGYGGEY	DDQTYETYDN	SYATQTQSVP
310	320	330	340
EYYDYGHGVS	EDAYDSYAPE	EWATTRSSLK	APPQRSARGG	YREHPYGRY