AiPD: Autoinhibited Protein Database

O94906

Gene name	PRPF6 (C20orf14)
Protein name	Pre-mRNA-processing factor 6
Names	Androgen receptor N-terminal domain-transactivating protein 1, ANT-1, PRP6 homolog, U5 snRNP-associated 102 kDa protein, U5-102 kDa protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:24148
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

100-178 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

100-178 (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

9 structures for O94906

Entry ID	Method	Resolution	Chain	Position	Source
3JCR	EM	700 A	G	1-941	PDB
5O9Z	EM	450 A	G	1-941	PDB
6AH0	EM	570 A	N	1-941	PDB
6AHD	EM	380 A	N	1-941	PDB
6QW6	EM	292 A	5J	1-941	PDB
6QX9	EM	328 A	5J	656-937	PDB
8Q7N	EM	310 A	N	1-941	PDB
8QO9	EM	529 A	N	1-941	PDB
AF-O94906-F1	Predicted				AlphaFoldDB

470 variants for O94906

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA9971825 rs771734100 RCV000345725 RCV000415738	65	A>T	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs369787039 RCV001074688 RCV001226967 CA9971925	172	R>W	Variant assessed as Somatic; impact. Retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD
rs758309604 RCV002563970 CA9971928 RCV001240208	176	Y>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs770072579 RCV001075455 CA9971931	181	P>A	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA270103 rs527236096 RCV000132667	184	D>H	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001253079 rs2059135246	192	Q>H	Retinitis pigmentosa 60 [ClinVar]	Yes	ClinVar dbSNP
rs778595280 RCV002547062 CA9971970 RCV001346468	235	T>A	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000348482 CA10644441 rs886056959	367	R>H	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000405732 rs886056960 CA10652815	368	H>R	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs952267888 RCV001140380	416	P>T	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001198278 rs2059216772	484	E>A	Retinitis pigmentosa 60 [ClinVar]	Yes	ClinVar dbSNP
RCV001861171 CA10653437 rs886056961 RCV000263046	498	G>S	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2059240399 RCV001196256	528	A>T	Retinitis pigmentosa 60 [ClinVar]	Yes	ClinVar dbSNP
CA9972230 RCV002547531 RCV001351592 rs149811894	539	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA409739618 RCV001142239 rs1464814132	693	A>S	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA9972372 RCV001142240 RCV002032351 rs754149863	703	R>W	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs387907100 RCV000024084 VAR_065768 RCV001852563 CA259993	729	R>W	Retinitis pigmentosa 60 (rp60) Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 60 RP60; impaired function in pre-mRNA splicing; mislocalized in Cajal bodies; partial loss of localization in splicing speckles [Ensembl, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD
rs961636202 RCV001246956 CA317548070 RCV002570352	743	T>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA9972463 rs373071691 RCV001137500 RCV001063538	809	N>D	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
RCV001869363 CA317550344 rs1037019727 RCV000990343	865	H>Y	Retinitis pigmentosa 60 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000278328 RCV001210643 CA9972582 rs140112205	896	E>D	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA9972593 RCV000335823 rs139778757 COSM218640 RCV001034157	915	V>M	Retinitis pigmentosa pancreas [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs765346207 RCV002563082 CA9972594 RCV001225543	918	D>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA9972595 rs773239629 RCV000403184 RCV001345394	919	I>T	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs149771221 RCV001196069 CA317551255 RCV001308855	919	I>V	Retinitis pigmentosa 60 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs145731410 RCV001517956 RCV000300514 CA9972600	927	G>R	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747812103 RCV001003133	941	F>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1196584677 CA409796258	2	N>S		No	ClinGen TOPMed
CA409796299 rs1410147184	7	P>L		No	ClinGen gnomAD
CA317567242 rs796657288	11	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA409796329 rs1289907639	12	P>S		No	ClinGen TOPMed
CA409796335 rs1456488260	13	A>S		No	ClinGen gnomAD
CA9971770 rs754986323	14	P>S		No	ClinGen ExAC gnomAD
rs1284961469 CA409796345	15	L>V		No	ClinGen gnomAD
rs1227542894 CA409796354	16	G>A		No	ClinGen TOPMed gnomAD
rs1227542894 CA409796353	16	G>D		No	ClinGen TOPMed gnomAD
CA9971773 rs755916394	19	P>S		No	ClinGen ExAC gnomAD
rs774832670	24	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601505842 CA409796535	32	S>A		No	ClinGen Ensembl
TCGA novel	37	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001301886 rs2059078451	47	R>C		No	ClinVar dbSNP
rs1363266999 CA409796742 RCV001347654	48	H>R		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	50	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	52	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770320726 CA9971820	56	V>A		No	ClinGen ExAC gnomAD
rs748191076 CA9971819	56	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9971822 rs771136935	58	D>N		No	ClinGen ExAC gnomAD
rs774774755 CA9971823	59	Q>*		No	ClinGen ExAC gnomAD
CA409797527 rs1206963578	65	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA409797587 rs1306196291	70	D>N		No	ClinGen gnomAD
TCGA novel	74	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA317570601 rs111613609	82	N>S		No	ClinGen Ensembl
rs746231193 CA409797973	84	Y>*		No	ClinGen ExAC TOPMed gnomAD
RCV001064321 rs2059086844	86	G>R		No	ClinVar dbSNP
CA409798065 rs1367981211	91	S>G		No	ClinGen gnomAD
rs1408416343 CA409798089	92	G>E		No	ClinGen gnomAD
TCGA novel	93	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	99	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409798229 rs1355804544	103	A>V		No	ClinGen gnomAD
rs1361456904 CA409798241	104	I>T		No	ClinGen gnomAD
CA409798233 rs1292458832	104	I>V		No	ClinGen TOPMed gnomAD
CA409798257 rs1249486746 RCV001245880 COSM1190321	105	Y>C	lung [Cosmic]	No	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA9971864 rs149183468	108	L>R		No	ClinGen ESP ExAC gnomAD
rs1387653451 CA409798356	112	M>K		No	ClinGen gnomAD
rs1439311273 CA409798389	114	E>G		No	ClinGen TOPMed gnomAD
CA317570663 rs368504765	116	R>K		No	ClinGen ESP TOPMed
rs1428313480 CA409798461	120	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA409715012 rs1601512915	122	Q>R		No	ClinGen Ensembl
rs538944016 CA9971887	123	R>K		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	129	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	131	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762143534 CA9971913	148	K>R		No	ClinGen ExAC gnomAD
CA9971914 rs769872715	154	E>*		No	ClinGen ExAC gnomAD
rs1490630564 CA409715373	155	E>A		No	ClinGen gnomAD
CA409715402 rs1202005541	157	W>*		No	ClinGen gnomAD
CA9971917 rs767004241	162	E>K		No	ClinGen ExAC gnomAD
rs1601513793 CA409715475	163	V>G		No	ClinGen Ensembl
rs760119045 CA9971919	165	D>N		No	ClinGen ExAC gnomAD
CA409715531 rs1364851051	168	N>I		No	ClinGen gnomAD
CA409715529 RCV001294559 rs1364851051	168	N>S		No	ClinGen ClinVar dbSNP gnomAD
rs755831119 CA9971922	170	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9971923 rs202059755	170	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9971924 rs753370082	171	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	172	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1305913712 CA409715597	174	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9971927 rs745861376 RCV001214013	175	R>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA409715609 rs1243113313	175	R>H		No	ClinGen TOPMed gnomAD
COSM1190322 rs1243113313 CA409715612	175	R>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs746737997 CA9971930	178	K>R		No	ClinGen ExAC gnomAD
CA409715685 rs1363661627	183	P>T		No	ClinGen TOPMed
CA9971932 rs773246926	185	S>R		No	ClinGen ExAC gnomAD
CA317524813 rs941780187	189	K>R		No	ClinGen Ensembl
rs941780187 CA409715730	189	K>T		No	ClinGen Ensembl
rs771205248 CA9971934	190	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1369244650 RCV001068383 CA409715768	193	T>I		No	ClinGen ClinVar TOPMed dbSNP
rs1422175828 CA409715766	193	T>S		No	ClinGen gnomAD
rs767880837 CA9971937	194	G>R		No	ClinGen ExAC TOPMed gnomAD
RCV001043618 rs2059135299	194	G>V		No	ClinVar dbSNP
CA409715787 rs1165245480	195	E>K		No	ClinGen TOPMed gnomAD
CA409715798 rs1352614589	196	N>Y		No	ClinGen gnomAD
rs1003153947 CA317524845	197	H>D		No	ClinGen Ensembl
CA409715825 rs1206345669	198	T>I		No	ClinGen TOPMed
CA9971938 rs775954671 CA409715844	200	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1298441968 CA409715857	201	D>G		No	ClinGen gnomAD
CA317524864 rs369155117	202	P>L		No	ClinGen Ensembl
rs760901426 CA9971939	203	R>*		No	ClinGen ExAC TOPMed gnomAD
rs760901426 CA409715877	203	R>G		No	ClinGen ExAC TOPMed gnomAD
rs373553485 CA9971940	203	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA409715892 rs1313679952	204	Q>L		No	ClinGen gnomAD
rs1185552641 CA409716004	206	Q>P		No	ClinGen TOPMed gnomAD
rs766206152 CA317525196	209	G>V		No	ClinGen Ensembl
rs754621830 RCV001212624 CA317525202	210	L>F		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1175322905 CA409716152	215	P>S		No	ClinGen gnomAD
CA409716171 rs1470687090	216	G>A		No	ClinGen gnomAD
rs1315546096 CA409716185	217	G>*		No	ClinGen gnomAD
CA409716192 rs1450785230	217	G>V		No	ClinGen TOPMed
rs761493592 CA9971962	218	L>P		No	ClinGen ExAC TOPMed gnomAD
CA409716203 rs761493592	218	L>R		No	ClinGen ExAC TOPMed gnomAD
CA409716254 rs1223260218	221	P>A		No	ClinGen gnomAD
rs749954832 CA9971964	221	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1046791 CA317525218	223	P>R		No	ClinGen Ensembl
CA409716308 rs1238888963	225	G>R		No	ClinGen TOPMed
rs762308213 CA9971965	227	T>M		No	ClinGen ExAC TOPMed gnomAD
rs766342583 CA9971966	228	P>S		No	ClinGen ExAC TOPMed
rs751515417 CA9971967	230	L>M		No	ClinGen ExAC gnomAD
CA409716425 rs1446366225	234	G>A		No	ClinGen gnomAD
CA9971969 rs781185049	234	G>S		No	ClinGen ExAC gnomAD
rs540308288 CA317525263	235	T>I		No	ClinGen Ensembl
TCGA novel	236	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779228583 CA9971972	239	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1481179748 CA409717246	248	N>S		No	ClinGen gnomAD
rs780167715 CA9971975	252	D>N		No	ClinGen ExAC TOPMed gnomAD
rs563414452 CA9971977	253	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1358263870 RCV001038834	260	D>missing		No	ClinVar dbSNP
CA9972001 rs770589513	262	V>L		No	ClinGen ExAC gnomAD
CA409717796 rs770589513	262	V>M		No	ClinGen ExAC gnomAD
rs759039193 CA9972003	263	S>N		No	ClinGen ExAC gnomAD
rs1569215281 CA409717827	265	Q>*		No	ClinGen Ensembl
CA409717829 rs1184817190	265	Q>R		No	ClinGen gnomAD
rs2059154089 RCV001322144	266	T>N		No	ClinVar dbSNP
CA409717847 rs1569215294	267	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA9972008 rs753635573	268	V>A		No	ClinGen ExAC gnomAD
TCGA novel	269	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142256999 CA317528613	270	P>S		No	ClinGen ESP
CA409717988 rs1453444062	279	S>F		No	ClinGen gnomAD
CA9972013 rs781241867 TCGA novel	280	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA9972012 rs754980618	280	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9972015 RCV001307523 rs377270235	282	P>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA409718061 rs1405959400	284	H>R		No	ClinGen TOPMed
rs1260856035 CA409718080	285	G>E		No	ClinGen gnomAD
CA9972037 rs779142310	289	N>K		No	ClinGen ExAC gnomAD
CA409718434 rs1292629220	290	D>H		No	ClinGen TOPMed
RCV001235624 CA317529296 rs895004636	291	I>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA409718479 rs1401652460	292	K>R		No	ClinGen gnomAD
COSM193581 CA409718542 rs1344492269	295	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs199917811 CA317529314	295	R>Q		No	ClinGen 1000Genomes gnomAD
CA9972041 rs768491729	299	K>E		No	ClinGen ExAC gnomAD
TCGA novel	300	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1261847848 CA409718710	302	R>G		No	ClinGen TOPMed gnomAD
rs1043474019 CA317529345	302	R>Q		No	ClinGen gnomAD
CA409718715 rs1261847848	302	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA409718813 rs1601516890	305	N>T		No	ClinGen Ensembl
CA409718853 rs1291421051	307	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9972043 rs761648225	308	H>P		No	ClinGen ExAC gnomAD
CA9972042 rs776561495	308	H>Y		No	ClinGen ExAC
rs1193207562 CA409718921	309	P>L		No	ClinGen gnomAD
CA409718969 rs1182575773	311	A>G		No	ClinGen gnomAD
CA409718958 rs1418624058	311	A>S		No	ClinGen gnomAD
rs772967587 CA9972045	312	W>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	314	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1413227 rs1364806576 CA409719129	317	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs752800942 CA9972048	324	K>R		No	ClinGen ExAC gnomAD
rs1375738785 CA409719427	327	V>I		No	ClinGen TOPMed
rs764514614 CA9972050	335	G>R		No	ClinGen ExAC TOPMed gnomAD
RCV001067890 CA409719660 rs1244491802	336	T>A		No	ClinGen ClinVar dbSNP gnomAD
rs757693374 CA9972052	338	M>I		No	ClinGen ExAC gnomAD
TCGA novel	339	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409719806 rs1281780481	341	K>M		No	ClinGen gnomAD
rs774120472 CA9972083	345	V>I		No	ClinGen ExAC gnomAD
rs768731210 CA9972085	350	A>T		No	ClinGen ExAC gnomAD
rs761740053 CA9972087	355	G>R		No	ClinGen ExAC gnomAD
rs1352231783 CA409720504	357	T>A		No	ClinGen TOPMed
rs765843738 COSM1029221 CA9972088	360	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1040104979 CA317531048	361	V>L		No	ClinGen Ensembl
CA9972090 rs763536750	367	R>C		No	ClinGen ExAC TOPMed gnomAD
rs766896019 CA9972091	369	L>F		No	ClinGen ExAC gnomAD
rs1194051177 CA409720783	371	Q>E		No	ClinGen gnomAD
rs767031818 CA9972094	379	A>G		No	ClinGen ExAC TOPMed gnomAD
rs754688708 CA9972093	379	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9972096 rs755516926	380	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs202144488 CA9972097	384	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9972100 rs778722070	386	I>V		No	ClinGen ExAC
rs745598284 CA9972101	387	R>C		No	ClinGen ExAC TOPMed gnomAD
rs745598284 CA409721102	387	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9972102 rs768934917	387	R>H		No	ClinGen ExAC TOPMed gnomAD
rs2059164868 RCV001318696	389	K>T		No	ClinVar dbSNP
rs1404627211 CA409721264	391	R>Q		No	ClinGen TOPMed gnomAD
COSM1029222 CA409721252 rs1569216086	391	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA409721321 rs1369865859	394	R>P		No	ClinGen TOPMed gnomAD
CA409721324 rs1369865859	394	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1027166406 CA317537382	396	A>V		No	ClinGen Ensembl
CA9972123 rs779880816	398	E>D		No	ClinGen ExAC gnomAD
RCV001244021 rs2059209997	399	H>R		No	ClinVar dbSNP
COSM1029223 rs1394385875 CA409724932	403	S>L	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs778028858 CA9972126	409	A>P		No	ClinGen ExAC gnomAD
rs771579599 CA9972128	411	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA409725245 rs1472686375	416	P>L		No	ClinGen gnomAD
CA317537411 rs952267888	416	P>S		No	ClinGen TOPMed
CA409725302 rs1297422973	418	D>N		No	ClinGen TOPMed
TCGA novel	418	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409725342 rs1416232991	419	A>G		No	ClinGen gnomAD
rs775905523 CA9972132	421	I>V		No	ClinGen ExAC gnomAD
rs1328435416 CA409725407	422	M>V		No	ClinGen gnomAD
CA317537416 rs970831689	426	A>S		No	ClinGen Ensembl
CA409725590 rs1215108374	429	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs2059210610 RCV001227139	431	P>L		No	ClinVar dbSNP
CA409725664 rs1569219270 RCV000732157	432	T>S		No	ClinGen ClinVar Ensembl dbSNP
rs753357562 CA9972135	434	V>M		No	ClinGen ExAC gnomAD
rs1330055686 CA409726105	439	A>V		No	ClinGen gnomAD
rs776953711 CA9972170	446	Y>C		No	ClinGen ExAC gnomAD
rs772617976 CA9972173	449	A>S		No	ClinGen ExAC
CA409726352 rs1217239346	450	R>H		No	ClinGen TOPMed
CA409726670 rs1569219614	461	P>A		No	ClinGen Ensembl
CA9972177 rs767470219	463	D>H		No	ClinGen ExAC gnomAD
rs752513491 CA9972178	464	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9972179 rs757455788	464	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9972180 rs765453141	465	H>R		No	ClinGen ExAC TOPMed gnomAD
rs757991297 CA409726905	469	T>K		No	ClinGen ExAC TOPMed gnomAD
rs757991297 CA9972181	469	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA409727055 rs1421269040	475	E>K		No	ClinGen gnomAD
rs780091598 CA9972183	476	A>V		No	ClinGen ExAC gnomAD
CA409727164 rs1433048453 VAR_069766	477	N>S	very rare variant found in a family with neuronal ceroid lipofuscinosis carrying a causative mutation in DNAJC5; uncertain role as a disease phenotype modifier [UniProt]	No	ClinGen UniProt TOPMed dbSNP
rs747561110 CA9972184	480	T>A		No	ClinGen ExAC gnomAD
rs1569219648 CA409727228	480	T>M		No	ClinGen Ensembl
rs1601523869 CA409727331	483	V>G		No	ClinGen Ensembl
TCGA novel	485	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409727466 rs1601523885	488	D>A		No	ClinGen Ensembl
rs769344088 CA9972188	488	D>N		No	ClinGen ExAC gnomAD
rs1244176735 CA409727479	489	R>*		No	ClinGen gnomAD
rs772852007 CA9972189	490	A>P		No	ClinGen ExAC gnomAD
CA409727520 rs772852007	490	A>S		No	ClinGen ExAC gnomAD
CA9972192 rs773978300	495	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1569219675 CA409727625	496	A>T		No	ClinGen Ensembl
rs767527447 CA9972194	498	G>D		No	ClinGen ExAC gnomAD
CA317538224 rs867500568	502	N>S		No	ClinGen Ensembl
rs760464134 CA9972196	505	Q>L		No	ClinGen ExAC gnomAD
rs1177155968 CA409727878	508	Q>H		No	ClinGen TOPMed
CA409729221 rs1260141490	509	D>N		No	ClinGen gnomAD
CA9972218 rs763264227 COSM3405292	511	E>K	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1569221275 CA409729387	517	G>R		No	ClinGen Ensembl
rs772766077 CA317540119	518	S>N		No	ClinGen TOPMed gnomAD
CA409729429 rs1220149274	519	V>M		No	ClinGen TOPMed
CA9972221 rs759543769	520	A>V		No	ClinGen ExAC gnomAD
CA409729488 rs1601526567	521	T>P		No	ClinGen Ensembl
rs1425229354 CA409729559	523	Q>R		No	ClinGen gnomAD
rs756558140 CA9972224	525	V>A		No	ClinGen ExAC TOPMed gnomAD
rs192192899 CA317540127	525	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs1467909645 CA409729628	526	M>T		No	ClinGen TOPMed gnomAD
CA9972225 rs760117864	527	R>C		No	ClinGen ExAC TOPMed gnomAD
CA317540132 rs760117864	527	R>G		No	ClinGen ExAC TOPMed gnomAD
rs371456581 CA9972226	527	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371456581 CA317540135	527	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA409729650 rs760117864	527	R>S		No	ClinGen ExAC TOPMed gnomAD
CA409729689 rs1280305179	529	V>M		No	ClinGen gnomAD
CA409729818 rs1569221312	534	I>M		No	ClinGen Ensembl
CA317540143 rs866367712	537	E>K		No	ClinGen gnomAD
CA409729863 rs866367712	537	E>Q		No	ClinGen gnomAD
COSM724725 CA409729908 rs1390815439	539	R>W	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1569221322 CA409729993	542	T>I		No	ClinGen Ensembl
CA9972231 rs375443748	545	E>D		No	ClinGen ESP ExAC gnomAD
CA409730151 rs1216934324	547	A>S		No	ClinGen TOPMed gnomAD
rs747005222 CA9972232	548	D>G		No	ClinGen ExAC gnomAD
CA409730195 rs1476774956	549	S>G		No	ClinGen gnomAD
CA409732655 rs1450203737	551	V>I		No	ClinGen TOPMed
rs918720366 CA317546445	552	A>S		No	ClinGen gnomAD
rs918720366 CA409732691	552	A>T		No	ClinGen gnomAD
rs930071896 CA317546447	552	A>V		No	ClinGen TOPMed
CA317546449 rs1048488170	553	H>R		No	ClinGen Ensembl
CA317546451 rs895594667	554	N>S		No	ClinGen TOPMed gnomAD
CA9972260 rs775662334	560	R>*		No	ClinGen ExAC gnomAD
CA9972261 rs760618200	561	A>T		No	ClinGen ExAC gnomAD
rs1265620669 CA409733083	562	I>V		No	ClinGen TOPMed
rs372536656 RCV001053815 COSM1239958 CA9972263	564	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA317546458 rs867976481	565	Y>C		No	ClinGen Ensembl
CA9972265 rs765733703	566	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1223475361 CA409733353	569	V>L		No	ClinGen gnomAD
CA409733463 rs1271387957 RCV001202086	572	S>C		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA9972268 rs765889662	573	K>N		No	ClinGen ExAC gnomAD
TCGA novel	577	W>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	578	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409733668 rs1601530614	579	R>C		No	ClinGen Ensembl
rs1472653825 COSM1413229 CA409733684 RCV001319189	579	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA9972271 rs780738225	580	A>T		No	ClinGen ExAC gnomAD
rs756016737 CA9972273	581	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1009965445 CA317546471	584	E>K		No	ClinGen gnomAD
rs1157330248 CA409733898	586	N>S		No	ClinGen gnomAD
CA409733942 rs1284458909	587	H>Q		No	ClinGen gnomAD
CA409735081 rs1175458478	591	E>G		No	ClinGen TOPMed
CA409735164 rs1454625512	594	E>A		No	ClinGen TOPMed
rs770426386 CA9972300	595	A>V		No	ClinGen ExAC gnomAD
rs1426786814 CA409735311	600	A>P		No	ClinGen TOPMed
rs1477689467 CA409735360	602	A>D		No	ClinGen gnomAD
CA409735631 rs1601531441	609	V>M		No	ClinGen Ensembl
rs1601531465 CA409736090	623	D>G		No	ClinGen Ensembl
rs1321081729 CA409736064	623	D>N		No	ClinGen gnomAD
CA9972308 rs370784418	626	A>E		No	ClinGen ESP ExAC gnomAD
rs1569224729 CA409736394	632	A>T		No	ClinGen Ensembl
rs756373021 CA9972336	638	N>I		No	ClinGen ExAC gnomAD
rs756373021 CA9972335 COSM1483857	638	N>S	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA409737166 rs756373021	638	N>T		No	ClinGen ExAC gnomAD
rs1258895450 CA409737340	643	E>D		No	ClinGen TOPMed
TCGA novel	647	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376042669 CA409737461	648	A>V		No	ClinGen gnomAD
TCGA novel	653	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256300539 CA409737768	659	E>K		No	ClinGen gnomAD
rs142324958 CA9972340	659	E>V		No	ClinGen ESP ExAC gnomAD
rs868637780 CA317547330	660	R>W		No	ClinGen TOPMed gnomAD
rs907760680 CA317547336	661	A>T		No	ClinGen TOPMed
rs1198451733 CA409737842	662	R>W		No	ClinGen TOPMed gnomAD
CA409737950 rs1472701137	666	A>V		No	ClinGen gnomAD
rs1171753860 CA409737992	668	A>E		No	ClinGen gnomAD
rs1477194853 CA409737978	668	A>T		No	ClinGen gnomAD
CA409738049 rs1464861804	671	S>I		No	ClinGen gnomAD
CA409738051 rs1601532190	671	S>R		No	ClinGen Ensembl
CA636619867 rs1302570830	673	P>ACF*		No	ClinGen gnomAD
CA409738096 rs1339967897	675	A>S		No	ClinGen gnomAD
CA9972347 rs764645656	676	R>Q		No	ClinGen ExAC gnomAD
CA409738116 rs1215198380	676	R>W		No	ClinGen gnomAD
CA409739154 rs1445183499	678	F>L		No	ClinGen TOPMed
rs1601532827 CA409739365	684	L>M		No	ClinGen Ensembl
rs140418700 CA9972366	685	E>D		No	ClinGen ESP ExAC gnomAD
rs1254132782 CA409739440	687	V>L		No	ClinGen gnomAD
rs1254132782 CA409739438	687	V>M		No	ClinGen gnomAD
rs1157175319 CA409739517	689	D>G		No	ClinGen gnomAD
CA409739602 rs1601532848	692	R>G		No	ClinGen Ensembl
TCGA novel	692	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9972368 rs201356673	693	A>V		No	ClinGen ExAC gnomAD
rs986033497 CA317547820	697	L>V		No	ClinGen Ensembl
CA9972370 rs759339928	698	C>S		No	ClinGen ExAC gnomAD
TCGA novel RCV001345416 rs2059294340	699	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinVar NCI-TCGA dbSNP
CA409739820 rs1371549797	701	A>T		No	ClinGen gnomAD
rs761921786 CA9972373	703	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA409740035 rs1349676454	706	E>A		No	ClinGen TOPMed gnomAD
CA317547829 rs965866643	710	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	712	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9972374 rs765402454	713	M>V		No	ClinGen ExAC gnomAD
TCGA novel	715	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200718065 CA9972376	718	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9972377 rs780468673	719	E>K		No	ClinGen ExAC gnomAD
CA317547840 rs920019701	722	K>E		No	ClinGen TOPMed
CA409740419 rs1457524825	723	E>K		No	ClinGen TOPMed
CA409740441 rs1236571565	724	M>T		No	ClinGen TOPMed
CA409740470 rs1232707727	725	M>I		No	ClinGen TOPMed gnomAD
CA409740530 rs1470702476	728	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA317547854 rs764232825	729	R>Q		No	ClinGen TOPMed gnomAD
rs769291038 CA9972382	730	E>K		No	ClinGen ExAC gnomAD
rs150405861 CA409740642	734	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150405861 CA9972383	734	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748750130 CA9972384	734	Q>H		No	ClinGen ExAC gnomAD
CA9972385 rs770996932	735	G>W		No	ClinGen ExAC gnomAD
rs748946116 CA9972403	737	K>R		No	ClinGen ExAC
CA409740808 rs1601533187	738	K>R		No	ClinGen Ensembl
CA409740824 rs1164997992	739	C>S		No	ClinGen TOPMed
CA409740841 rs1444639193	740	P>A		No	ClinGen TOPMed
CA9972404 rs756888032	745	L>P		No	ClinGen ExAC gnomAD
rs1277031635 CA409740976	749	L>F		No	ClinGen gnomAD
rs778547651 CA9972405	750	S>F		No	ClinGen ExAC gnomAD
rs745862108 COSM326250 CA409741005	751	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9972406 rs745862108	751	R>Q		No	ClinGen ExAC gnomAD
rs138067555 CA317548078	751	R>W		No	ClinGen ESP TOPMed gnomAD
rs768431323 CA9972410	753	E>G		No	ClinGen ExAC gnomAD
CA9972409 rs746711495	753	E>Q		No	ClinGen ExAC gnomAD
rs773477434 CA9972411	754	E>G		No	ClinGen ExAC gnomAD
CA9972413 rs766484512	761	R>Q		No	ClinGen ExAC gnomAD
rs889828866 COSM1413232 CA317548103	763	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs199739342 CA9972414	764	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA409741245 rs1248272790	765	I>T		No	ClinGen TOPMed
CA317548109 rs1008241298	768	K>T		No	ClinGen Ensembl
COSM2933074 rs1297870965 CA409741345	770	R>C	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs760110452 CA9972415	770	R>H		No	ClinGen ExAC gnomAD
rs753111091 CA9972417 COSM1413233	775	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1601533251 CA409741434	776	N>T		No	ClinGen Ensembl
rs764542213 CA9972419	777	P>L		No	ClinGen ExAC gnomAD
rs1406910566 CA409741457	778	G>R		No	ClinGen gnomAD
rs1337693268 CA409742304	782	E>D		No	ClinGen gnomAD
TCGA novel	782	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9972451 rs772093706	785	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA409742373 COSM1222177 rs1292818093	785	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs747473838 RCV001059321	786	L>missing		No	ClinVar dbSNP
RCV000997813 CA409742482 rs1229221676	789	R>C		No	ClinGen ClinVar TOPMed dbSNP
rs918326837 CA317548508	789	R>L		No	ClinGen TOPMed
CA9972453 rs761298881	790	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1420577204 CA409742713	799	L>V		No	ClinGen gnomAD
CA9972457 rs765617598	803	A>S		No	ClinGen ExAC gnomAD
CA9972459 rs762632320	806	E>K		No	ClinGen ExAC gnomAD
CA409742847 rs1601533784	807	C>G		No	ClinGen Ensembl
rs149233905	810	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1193331265 CA409743252	812	I>M		No	ClinGen gnomAD
rs1601534254 CA409743232	812	I>V		No	ClinGen Ensembl
rs1035011246 CA317548963	815	S>F		No	ClinGen Ensembl
rs1436862487 CA409743499	820	L>F		No	ClinGen gnomAD
rs748690586 RCV001231561	821	E>D		No	ClinVar dbSNP
rs1207504949 CA409743554	822	A>T		No	ClinGen gnomAD
CA409743618 rs1569226429	824	P>R		No	ClinGen Ensembl
CA409743673 rs1454342199	826	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	830	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1569226433 CA409743783	830	S>N		No	ClinGen Ensembl
CA409743824 rs749610328	831	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9972501 rs749610328	831	V>M		No	ClinGen ExAC TOPMed gnomAD
rs774057212 CA9972503	839	H>Y		No	ClinGen ExAC gnomAD
rs978638546 CA317548987	840	D>N		No	ClinGen Ensembl
TCGA novel	841	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs925760242 CA317548995	842	H>N		No	ClinGen Ensembl
CA317549003 rs942456845	847	V>M		No	ClinGen TOPMed gnomAD
CA9972528 rs763494914	851	F>L		No	ClinGen ExAC gnomAD
CA409745848 rs1442551589	852	W>C		No	ClinGen gnomAD
CA317550312 rs76402935	852	W>L		No	ClinGen Ensembl
CA409745913 rs1353057336	855	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs776693034 CA9972529	855	R>W		No	ClinGen ExAC gnomAD
CA409745930 rs1601536210	856	K>E		No	ClinGen Ensembl
rs1232084466 CA409745974	857	I>T		No	ClinGen gnomAD
CA9972530 rs761637945	858	T>A		No	ClinGen ExAC TOPMed gnomAD
CA409745988 rs761637945	858	T>S		No	ClinGen ExAC TOPMed gnomAD
rs765149519 CA9972531	860	A>T		No	ClinGen ExAC gnomAD
CA409746209 rs1305895093	866	R>C		No	ClinGen TOPMed
CA9972532 rs750205504	866	R>H		No	ClinGen ExAC gnomAD
rs767793133 CA9972534	872	S>L		No	ClinGen ExAC TOPMed gnomAD
CA9972536 rs756285478	873	D>N		No	ClinGen ExAC
rs777683469 CA9972537	877	A>V		No	ClinGen ExAC gnomAD
rs2059316835 RCV001228495	880	F>A		No	ClinVar dbSNP
rs147506257 CA9972541	880	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141597395 CA9972540	880	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9972543 rs771722874	881	F>L		No	ClinGen ExAC gnomAD
CA409746609 rs1158674776	886	L>V		No	ClinGen TOPMed
CA409746693 rs1413778271	890	T>S		No	ClinGen gnomAD
rs1408738075 CA409747754	892	E>G		No	ClinGen gnomAD
rs766800672 CA9972580	894	Q>E		No	ClinGen ExAC gnomAD
RCV001227984 rs2059321603	895	E>G		No	ClinVar dbSNP
CA9972581 rs751808061	895	E>Q		No	ClinGen ExAC gnomAD
CA409747929 rs1333010067	899	K>N		No	ClinGen gnomAD
rs145573613 CA9972583	900	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs527892521 CA9972584 RCV001044687	900	R>H		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs527892521 CA409747954	900	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409747974 rs1368335586	901	C>W		No	ClinGen TOPMed
CA9972585 rs755725733	902	E>K		No	ClinGen ExAC TOPMed gnomAD
rs2059321733 RCV001321889	903	S>I		No	ClinVar dbSNP
CA9972587 rs768640309	904	A>T		No	ClinGen ExAC gnomAD
CA409748117 rs1569227873	907	R>Q		No	ClinGen Ensembl
rs1021781478 CA317551229	907	R>W		No	ClinGen gnomAD
rs774199266 CA9972589	910	E>D		No	ClinGen ExAC TOPMed gnomAD
rs538462570 CA409748214	914	A>S		No	ClinGen ExAC gnomAD
CA9972591 RCV001231932 rs538462570	914	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1342610169 CA409748255	920	A>D		No	ClinGen gnomAD
rs766740751 CA9972597	920	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752095677 CA9972598	921	N>T		No	ClinGen ExAC gnomAD
rs755367167 CA9972599	924	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1352445786 CA409748322	926	I>F		No	ClinGen gnomAD
CA409748334 RCV001343084 rs1255663656	927	G>E		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1334143480 CA409748360	929	I>M		No	ClinGen gnomAD
rs1601537251 CA409748387	932	L>P		No	ClinGen Ensembl
CA409748395 rs1447825826	933	V>A		No	ClinGen gnomAD
TCGA novel	934	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409748409 rs1337177556	935	G>S		No	ClinGen gnomAD
CA9972603 rs550433087	936	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748739869 CA9972604	936	R>H		No	ClinGen ExAC TOPMed gnomAD
CA317551304 rs748739869	936	R>L		No	ClinGen ExAC TOPMed gnomAD
CA409748441 rs1185235133	938	K>T		No	ClinGen TOPMed gnomAD
rs1342591802 CA409748465	940	T>A		No	ClinGen TOPMed
rs1555921755 CA9972606	940	T>S		No	ClinGen Ensembl
rs747812103	941	F>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with O94906

2 regional properties for O94906

Type	Name	Position	InterPro Accession
domain	Myc-type, basic helix-loop-helix (bHLH) domain	256 - 311	IPR011598
domain	Transcription factor PIF1-like, basic helix-loop-helix domain	256 - 318	IPR047265

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleoplasm Nucleus speckle	Localized in splicing speckles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
catalytic step 2 spliceosome	A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.
U2-type precatalytic spliceosome	A spliceosomal complex that is formed by the recruitment of the preassembled U4/U6.U5 tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the U1, U2 and U4/U6.U5 snRNPs.
U4/U6 x U5 tri-snRNP complex	A ribonucleoprotein complex that is formed by the association of the U4/U6 and U5 snRNPs.
U5 snRNP	A ribonucleoprotein complex that contains small nuclear RNA U5, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U5 snRNP, most of which remain associated with the U5 snRNA both while the U5 snRNP is free or assembled into a series of spliceosomal complexes.

5 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
nuclear androgen receptor binding	Binding to a nuclear androgen receptor.
ribonucleoprotein complex binding	Binding to a complex of RNA and protein.
RNA binding	Binding to an RNA molecule or a portion thereof.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

7 GO annotations of biological process

Name	Definition
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
RNA localization	A process in which RNA is transported to, or maintained in, a specific location.
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.
RNA splicing, via transesterification reactions	Splicing of RNA via a series of two transesterification reactions.
spliceosomal complex assembly	The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions.
spliceosomal tri-snRNP complex assembly	The formation of a tri-snRNP complex containing U4 and U6 (or U4atac and U6atac) snRNAs and U5 snRNAs and associated proteins. This includes reannealing of U4 and U6 (or U4atac and U6atac) snRNAs released from previous rounds of splicing to reform the U4/U6 snRNP (or U4atac/U6atac snRNP) as well as the subsequent association of the U5 snRNP with the U4/U6 snRNP (or U4atac/U6atac snRNP) to form a tri-snRNP that is ready to reassemble into another spliceosome complex.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2KJJ0	PRPF6	Pre-mRNA-processing factor 6	Bos taurus (Bovine)	PR
Q9HCS7	XAB2	Pre-mRNA-splicing factor SYF1	Homo sapiens (Human)	PR
Q9BZJ0	CRNKL1	Crooked neck-like protein 1	Homo sapiens (Human)	PR
Q91YR7	Prpf6	Pre-mRNA-processing factor 6	Mus musculus (Mouse)	PR
A1A5S1	Prpf6	Pre-mRNA-processing factor 6	Rattus norvegicus (Rat)	PR
Q9SCU8	BGAL14	Beta-galactosidase 14	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MNKKKKPFLG	MPAPLGYVPG	LGRGATGFTT	RSDIGPARDA	NDPVDDRHAP	PGKRTVGDQM
70	80	90	100	110	120
KKNQAADDDD	EDLNDTNYDE	FNGYAGSLFS	SGPYEKDDEE	ADAIYAALDK	RMDERRKERR
130	140	150	160	170	180
EQREKEEIEK	YRMERPKIQQ	QFSDLKRKLA	EVTEEEWLSI	PEVGDARNKR	QRNPRYEKLT
190	200	210	220	230	240
PVPDSFFAKH	LQTGENHTSV	DPRQTQFGGL	NTPYPGGLNT	PYPGGMTPGL	MTPGTGELDM
250	260	270	280	290	300
RKIGQARNTL	MDMRLSQVSD	SVSGQTVVDP	KGYLTDLNSM	IPTHGGDIND	IKKARLLLKS
310	320	330	340	350	360
VRETNPHHPP	AWIASARLEE	VTGKLQVARN	LIMKGTEMCP	KSEDVWLEAA	RLQPGDTAKA
370	380	390	400	410	420
VVAQAVRHLP	QSVRIYIRAA	ELETDIRAKK	RVLRKALEHV	PNSVRLWKAA	VELEEPEDAR
430	440	450	460	470	480
IMLSRAVECC	PTSVELWLAL	ARLETYENAR	KVLNKARENI	PTDRHIWITA	AKLEEANGNT
490	500	510	520	530	540
QMVEKIIDRA	ITSLRANGVE	INREQWIQDA	EECDRAGSVA	TCQAVMRAVI	GIGIEEEDRK
550	560	570	580	590	600
HTWMEDADSC	VAHNALECAR	AIYAYALQVF	PSKKSVWLRA	AYFEKNHGTR	ESLEALLQRA
610	620	630	640	650	660
VAHCPKAEVL	WLMGAKSKWL	AGDVPAARSI	LALAFQANPN	SEEIWLAAVK	LESENDEYER
670	680	690	700	710	720
ARRLLAKARS	SAPTARVFMK	SVKLEWVQDN	IRAAQDLCEE	ALRHYEDFPK	LWMMKGQIEE
730	740	750	760	770	780
QKEMMEKARE	AYNQGLKKCP	HSTPLWLLLS	RLEEKIGQLT	RARAILEKSR	LKNPKNPGLW
790	800	810	820	830	840
LESVRLEYRA	GLKNIANTLM	AKALQECPNS	GILWSEAIFL	EARPQRRTKS	VDALKKCEHD
850	860	870	880	890	900
PHVLLAVAKL	FWSQRKITKA	REWFHRTVKI	DSDLGDAWAF	FYKFELQHGT	EEQQEEVRKR
910	920	930	940
CESAEPRHGE	LWCAVSKDIA	NWQKKIGDIL	RLVAGRIKNT	F