CleftGeneDB-Search

Gene: CSRNP1

Basic information

Tag	Content
Uniprot ID	Q96S65; Q69YY5;
Entrez ID	64651
Genbank protein ID	BAB61065.1; AAH38949.1; CAH10719.1; BAB79450.1;
Genbank nucleotide ID	NM_001320560.1; NM_033027.3; XM_017007048.1;
Ensembl protein ID	ENSP00000273153; ENSP00000422532;
Ensembl nucleotide ID	ENSG00000144655
Gene name	Cysteine/serine-rich nuclear protein 1
Gene symbol	CSRNP1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May have a tumor-suppressor function. May play a role in apoptosis.
Sequence	MTGLLKRKFD QLDEDNSSVS SSSSSSGCQS RSCSPSSSVS RAWDSEEEGP WDQMPLPDRD 60 FCGPRSFTPL SILKRARRER PGRVAFDGIT VFYFPRCQGF TSVPSRGGCT LGMALRHSAC 120 RRFSLAEFAQ EQARARHEKL RQRLKEEKLE MLQWKLSAAG VPQAEAGLPP VVDAIDDASV 180 EEDLAVAVAG GRLEEVSFLQ PYPARRRRAL LRASGVRRID REEKRELQAL RQSREDCGCH 240 CDRICDPETC SCSLAGIKCQ MDHTAFPCGC CREGCENPMG RVEFNQARVQ THFIHTLTRL 300 QLEQEAESFR ELEAPAQGSP PSPGEEALVP TFPLAKPPMN NELGDNSCSS DMTDSSTASS 360 SASGTSEAPD CPTHPGLPGP GFQPGVDDDS LARILSFSDS DFGGEEEEEE EGSVGNLDNL 420 SCFHPADIFG TSDPGGLASW THSYSGCSFT SGVLDENANL DASCFLNGGL EGSREGSLPG 480 TSVPPSMDAG RSSSVDLSLS SCDSFELLQA LPDYSLGPHY TSQKVSDSLD NIEAPHFPLP 540 GLSPPGDASS CFLESLMGFS EPAAEALDPF IDSQFEDTVP ASLMEPVPV 589

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	CSRNP1		F1MDN9		Bos taurus	Prediction	More>>
1:1 ortholog	CSRNP1	485596	E2RJ34		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	CSRNP1	102186348	A0A452FLI0		Capra hircus	Prediction	More>>
1:1 ortholog	CSRNP1	64651	Q96S65		Homo sapiens	Prediction	More>>
1:1 ortholog	Csrnp1	215418	P59054	CPO	Mus musculus	Publication	More>>
1:1 ortholog	CSRNP1	470794	K7BVU1		Pan troglodytes	Prediction	More>>
1:1 ortholog	CSRNP1	100519275	F1SJR3		Sus scrofa	Prediction	More>>
1:1 ortholog	CSRNP1		G1TKZ1		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Csrnp1	363165	D4AAK3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	csrnp1b		F1QNJ1		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1310399913	p.Thr2Ser	missense variant	-	NC_000003.12:g.39146678G>C	TOPMed
rs1362797413	p.Leu4Val	missense variant	-	NC_000003.12:g.39146673G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu5Phe	missense variant	-	NC_000003.12:g.39146668C>A	NCI-TCGA
rs763611186	p.Arg7Lys	missense variant	-	NC_000003.12:g.39146663C>T	ExAC,gnomAD
rs760169100	p.Lys8Asn	missense variant	-	NC_000003.12:g.39146659T>A	ExAC,gnomAD
rs1292627402	p.Phe9Ser	missense variant	-	NC_000003.12:g.39146657A>G	TOPMed,gnomAD
rs776047978	p.Asp10His	missense variant	-	NC_000003.12:g.39146655C>G	ExAC,TOPMed,gnomAD
COSM3408654	p.Asp10Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39146655C>A	NCI-TCGA Cosmic
rs201798561	p.Gln11His	missense variant	-	NC_000003.12:g.39146650C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1240023922	p.Asp13Asn	missense variant	-	NC_000003.12:g.39146646C>T	gnomAD
rs1352163268	p.Asp15Gly	missense variant	-	NC_000003.12:g.39146639T>C	gnomAD
rs1281121233	p.Asp15Glu	missense variant	-	NC_000003.12:g.39146638G>C	gnomAD
rs759995863	p.Ser18Leu	missense variant	-	NC_000003.12:g.39146630G>A	ExAC,TOPMed,gnomAD
rs759995863	p.Ser18Leu	missense variant	-	NC_000003.12:g.39146630G>A	NCI-TCGA
rs375017149	p.Val19Ile	missense variant	-	NC_000003.12:g.39146628C>T	ESP,ExAC,TOPMed,gnomAD
rs771288688	p.Ser21Phe	missense variant	-	NC_000003.12:g.39146621G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser21Pro	missense variant	-	NC_000003.12:g.39146622A>G	NCI-TCGA
rs773553421	p.Ser22Phe	missense variant	-	NC_000003.12:g.39146618G>A	ExAC,gnomAD
rs773553421	p.Ser22Tyr	missense variant	-	NC_000003.12:g.39146618G>T	ExAC,gnomAD
rs1191533266	p.Ser23Cys	missense variant	-	NC_000003.12:g.39146615G>C	TOPMed
rs368541138	p.Ser25Tyr	missense variant	-	NC_000003.12:g.39146609G>T	ESP,ExAC,TOPMed,gnomAD
rs368541138	p.Ser25Phe	missense variant	-	NC_000003.12:g.39146609G>A	ESP,ExAC,TOPMed,gnomAD
rs1261115358	p.Ser26Tyr	missense variant	-	NC_000003.12:g.39146606G>T	gnomAD
rs1445419888	p.Ser26Thr	missense variant	-	NC_000003.12:g.39146607A>T	TOPMed,gnomAD
rs1291091908	p.Gly27Arg	missense variant	-	NC_000003.12:g.39146604C>T	gnomAD
rs142952358	p.Arg31His	missense variant	-	NC_000003.12:g.39146591C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144818359	p.Arg31Cys	missense variant	-	NC_000003.12:g.39146592G>A	ESP,ExAC,TOPMed,gnomAD
rs142952358	p.Arg31His	missense variant	-	NC_000003.12:g.39146591C>T	NCI-TCGA
rs142952358	p.Arg31Pro	missense variant	-	NC_000003.12:g.39146591C>G	NCI-TCGA,NCI-TCGA Cosmic
rs142952358	p.Arg31Pro	missense variant	-	NC_000003.12:g.39146591C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs889733119	p.Ser32Phe	missense variant	-	NC_000003.12:g.39146588G>A	TOPMed
rs1027304792	p.Ser34Phe	missense variant	-	NC_000003.12:g.39146582G>A	gnomAD
rs1013491466	p.Ser36Asn	missense variant	-	NC_000003.12:g.39146576C>T	TOPMed
rs370236918	p.Arg41His	missense variant	-	NC_000003.12:g.39146561C>T	ESP,ExAC,TOPMed,gnomAD
rs150285879	p.Arg41Cys	missense variant	-	NC_000003.12:g.39146562G>A	ESP,ExAC,TOPMed,gnomAD
rs370236918	p.Arg41His	missense variant	-	NC_000003.12:g.39146561C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1318370973	p.Ala42Thr	missense variant	-	NC_000003.12:g.39146559C>T	gnomAD
rs1403380381	p.Glu46Lys	missense variant	-	NC_000003.12:g.39146547C>T	gnomAD
rs1335155149	p.Pro50Leu	missense variant	-	NC_000003.12:g.39146534G>A	gnomAD
rs1335155149	p.Pro50Arg	missense variant	-	NC_000003.12:g.39146534G>C	gnomAD
rs376945104	p.Asp52Val	missense variant	-	NC_000003.12:g.39146528T>A	ESP,ExAC,TOPMed,gnomAD
rs1426308440	p.Pro55Ser	missense variant	-	NC_000003.12:g.39146520G>A	gnomAD
rs140082006	p.Leu56Met	missense variant	-	NC_000003.12:g.39146517G>T	ESP,ExAC,TOPMed,gnomAD
rs1372622205	p.Pro57Leu	missense variant	-	NC_000003.12:g.39146513G>A	gnomAD
rs1241462641	p.Arg59His	missense variant	-	NC_000003.12:g.39146507C>T	TOPMed,gnomAD
rs543815580	p.Arg59Cys	missense variant	-	NC_000003.12:g.39146508G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766868456	p.Gly63Arg	missense variant	-	NC_000003.12:g.39146496C>G	ExAC,TOPMed,gnomAD
rs766868456	p.Gly63Ser	missense variant	-	NC_000003.12:g.39146496C>T	ExAC,TOPMed,gnomAD
rs1393966154	p.Pro64His	missense variant	-	NC_000003.12:g.39146492G>T	gnomAD
rs1280440413	p.Ser66Asn	missense variant	-	NC_000003.12:g.39146486C>T	gnomAD
NCI-TCGA novel	p.Phe67Cys	missense variant	-	NC_000003.12:g.39146483A>C	NCI-TCGA
rs1163075596	p.Thr68Ala	missense variant	-	NC_000003.12:g.39146481T>C	gnomAD
rs1212772457	p.Thr68Ser	missense variant	-	NC_000003.12:g.39146480G>C	gnomAD
rs778900757	p.Pro69Leu	missense variant	-	NC_000003.12:g.39145256G>A	ExAC,gnomAD
rs767566574	p.Pro69Ser	missense variant	-	NC_000003.12:g.39146478G>A	TOPMed,gnomAD
rs1318238038	p.Leu70Val	missense variant	-	NC_000003.12:g.39145254G>C	TOPMed,gnomAD
rs751584024	p.Ile72Val	missense variant	-	NC_000003.12:g.39145248T>C	ExAC,TOPMed,gnomAD
rs1309227373	p.Lys74Arg	missense variant	-	NC_000003.12:g.39145241T>C	gnomAD
rs1432142196	p.Arg75Gly	missense variant	-	NC_000003.12:g.39145239G>C	gnomAD
rs186954725	p.Arg75Gln	missense variant	-	NC_000003.12:g.39145238C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs780574067	p.Arg77Leu	missense variant	-	NC_000003.12:g.39145232C>A	ExAC,TOPMed,gnomAD
rs780574067	p.Arg77His	missense variant	-	NC_000003.12:g.39145232C>T	ExAC,TOPMed,gnomAD
rs755787292	p.Arg77Cys	missense variant	-	NC_000003.12:g.39145233G>A	ExAC,gnomAD
COSM1044475	p.Arg77Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39145233G>T	NCI-TCGA Cosmic
rs766961372	p.Arg78Gln	missense variant	-	NC_000003.12:g.39145229C>T	ExAC,TOPMed,gnomAD
rs752072229	p.Arg78Trp	missense variant	-	NC_000003.12:g.39145230G>A	ExAC,TOPMed,gnomAD
rs766961372	p.Arg78Pro	missense variant	-	NC_000003.12:g.39145229C>G	ExAC,TOPMed,gnomAD
rs967086569	p.Arg80Cys	missense variant	-	NC_000003.12:g.39145224G>A	TOPMed,gnomAD
rs375727374	p.Arg80His	missense variant	-	NC_000003.12:g.39145223C>T	ESP,ExAC,gnomAD
rs967086569	p.Arg80Cys	missense variant	-	NC_000003.12:g.39145224G>A	NCI-TCGA
COSM4117462	p.Gly82Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39145217C>A	NCI-TCGA Cosmic
rs768679810	p.Arg83Cys	missense variant	-	NC_000003.12:g.39145215G>A	ExAC,TOPMed,gnomAD
rs768679810	p.Arg83Gly	missense variant	-	NC_000003.12:g.39145215G>C	ExAC,TOPMed,gnomAD
rs760808464	p.Arg83His	missense variant	-	NC_000003.12:g.39145214C>T	ExAC,TOPMed,gnomAD
rs1222834980	p.Ala85Asp	missense variant	-	NC_000003.12:g.39145208G>T	gnomAD
NCI-TCGA novel	p.Phe86Leu	missense variant	-	NC_000003.12:g.39145206A>G	NCI-TCGA
rs1350464448	p.Asp87Gly	missense variant	-	NC_000003.12:g.39145202T>C	gnomAD
rs1449267702	p.Gly88Arg	missense variant	-	NC_000003.12:g.39145200C>T	gnomAD
rs372871421	p.Thr90Ile	missense variant	-	NC_000003.12:g.39145193G>A	ESP,ExAC,TOPMed,gnomAD
rs777576620	p.Val91Ile	missense variant	-	NC_000003.12:g.39145191C>T	ExAC,TOPMed,gnomAD
rs1302643910	p.Phe92Ile	missense variant	-	NC_000003.12:g.39145188A>T	gnomAD
rs1157272245	p.Arg96Cys	missense variant	-	NC_000003.12:g.39145176G>A	gnomAD
rs747810918	p.Arg96His	missense variant	-	NC_000003.12:g.39145175C>T	ExAC,TOPMed,gnomAD
COSM1422918	p.Arg96AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.39145176G>-	NCI-TCGA Cosmic
rs780891431	p.Cys97Trp	missense variant	-	NC_000003.12:g.39145171G>C	ExAC,gnomAD
rs1379248858	p.Thr101Ile	missense variant	-	NC_000003.12:g.39145160G>A	TOPMed,gnomAD
rs746506026	p.Val103Met	missense variant	-	NC_000003.12:g.39145155C>T	ExAC,gnomAD
rs79896317	p.Arg106His	missense variant	-	NC_000003.12:g.39145145C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs79896317	p.Arg106Leu	missense variant	-	NC_000003.12:g.39145145C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201668977	p.Arg106Cys	missense variant	-	NC_000003.12:g.39145146G>A	1000Genomes,ExAC,gnomAD
rs1368598720	p.Gly107Ser	missense variant	-	NC_000003.12:g.39145143C>T	TOPMed
COSM1044473	p.Gly108Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39145139C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys109Trp	missense variant	-	NC_000003.12:g.39145135A>C	NCI-TCGA
rs907174619	p.Gly112Asp	missense variant	-	NC_000003.12:g.39145127C>T	TOPMed
rs757630647	p.Arg116His	missense variant	-	NC_000003.12:g.39145115C>T	ExAC,TOPMed,gnomAD
rs757630647	p.Arg116His	missense variant	-	NC_000003.12:g.39145115C>T	NCI-TCGA,NCI-TCGA Cosmic
rs145870952	p.Arg116Cys	missense variant	-	NC_000003.12:g.39145116G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1465033986	p.Ser118Asn	missense variant	-	NC_000003.12:g.39145109C>T	gnomAD
rs1269182910	p.Ala119Gly	missense variant	-	NC_000003.12:g.39145106G>C	gnomAD
rs1269182910	p.Ala119Val	missense variant	-	NC_000003.12:g.39145106G>A	gnomAD
rs369362214	p.Arg121Cys	missense variant	-	NC_000003.12:g.39145101G>A	ESP,ExAC,TOPMed,gnomAD
rs760720188	p.Arg121Leu	missense variant	-	NC_000003.12:g.39145100C>A	ExAC,TOPMed,gnomAD
rs760720188	p.Arg121His	missense variant	-	NC_000003.12:g.39145100C>T	ExAC,TOPMed,gnomAD
rs372028126	p.Arg122Cys	missense variant	-	NC_000003.12:g.39145098G>A	ESP,ExAC,TOPMed,gnomAD
rs372028126	p.Arg122Ser	missense variant	-	NC_000003.12:g.39145098G>T	ESP,ExAC,TOPMed,gnomAD
rs200798768	p.Arg122His	missense variant	-	NC_000003.12:g.39145097C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200798768	p.Arg122His	missense variant	-	NC_000003.12:g.39145097C>T	NCI-TCGA,NCI-TCGA Cosmic
rs762883711	p.Leu125Trp	missense variant	-	NC_000003.12:g.39145088A>C	ExAC,gnomAD
rs1430319021	p.Glu127Asp	missense variant	-	NC_000003.12:g.39145081C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu127Asp	missense variant	-	NC_000003.12:g.39145081C>G	NCI-TCGA
NCI-TCGA novel	p.Phe128Leu	missense variant	-	NC_000003.12:g.39145080A>G	NCI-TCGA
rs866090111	p.Ala129Glu	missense variant	-	NC_000003.12:g.39145076G>T	TOPMed,gnomAD
rs866090111	p.Ala129Val	missense variant	-	NC_000003.12:g.39145076G>A	NCI-TCGA Cosmic
rs866090111	p.Ala129Val	missense variant	-	NC_000003.12:g.39145076G>A	TOPMed,gnomAD
rs776192489	p.Gln130Arg	missense variant	-	NC_000003.12:g.39145073T>C	ExAC,gnomAD
rs769542490	p.Gln130Lys	missense variant	-	NC_000003.12:g.39145074G>T	ExAC,TOPMed,gnomAD
rs776192489	p.Gln130Leu	missense variant	-	NC_000003.12:g.39145073T>A	ExAC,gnomAD
rs1428334987	p.Glu131Asp	missense variant	-	NC_000003.12:g.39145069C>G	TOPMed,gnomAD
rs768372949	p.Ala133Val	missense variant	-	NC_000003.12:g.39145064G>A	ExAC,gnomAD
rs757921966	p.Arg134His	missense variant	-	NC_000003.12:g.39145061C>T	ExAC,TOPMed,gnomAD
rs779714471	p.Arg134Cys	missense variant	-	NC_000003.12:g.39145062G>A	ExAC,TOPMed,gnomAD
rs149009984	p.Arg136Gln	missense variant	-	NC_000003.12:g.39145055C>T	1000Genomes,ExAC,gnomAD
rs746438028	p.Arg136Trp	missense variant	-	NC_000003.12:g.39145056G>A	NCI-TCGA
rs746438028	p.Arg136Trp	missense variant	-	NC_000003.12:g.39145056G>A	ExAC,TOPMed,gnomAD
rs149009984	p.Arg136Gln	missense variant	-	NC_000003.12:g.39145055C>T	NCI-TCGA,NCI-TCGA Cosmic
rs372648220	p.Glu138Lys	missense variant	-	NC_000003.12:g.39145050C>T	ESP,ExAC,TOPMed,gnomAD
rs562210829	p.Lys139Gln	missense variant	-	NC_000003.12:g.39145047T>G	1000Genomes,ExAC,gnomAD
rs139691127	p.Arg141His	missense variant	-	NC_000003.12:g.39145040C>T	ESP,ExAC,TOPMed,gnomAD
rs374212431	p.Arg141Cys	missense variant	-	NC_000003.12:g.39145041G>A	ESP,ExAC,TOPMed,gnomAD
rs139691127	p.Arg141His	missense variant	-	NC_000003.12:g.39145040C>T	NCI-TCGA,NCI-TCGA Cosmic
rs145992009	p.Arg143His	missense variant	-	NC_000003.12:g.39145034C>T	ESP,ExAC,TOPMed,gnomAD
rs150622788	p.Arg143Cys	missense variant	-	NC_000003.12:g.39145035G>A	ESP,ExAC,TOPMed,gnomAD
rs138067710	p.Glu147Gln	missense variant	-	NC_000003.12:g.39145023C>G	ESP,ExAC,TOPMed,gnomAD
rs1303168616	p.Glu147Asp	missense variant	-	NC_000003.12:g.39145021C>G	TOPMed,gnomAD
COSM1044467	p.Glu147Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39145021C>A	NCI-TCGA Cosmic
rs776520739	p.Lys148Glu	missense variant	-	NC_000003.12:g.39145020T>C	ExAC
rs768268943	p.Met151Thr	missense variant	-	NC_000003.12:g.39145010A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met151Leu	missense variant	-	NC_000003.12:g.39145011T>A	NCI-TCGA
rs1227253392	p.Leu152Pro	missense variant	-	NC_000003.12:g.39145007A>G	TOPMed
rs781483967	p.Ser157Trp	missense variant	-	NC_000003.12:g.39144447G>C	ExAC,gnomAD
rs781483967	p.Ser157Leu	missense variant	-	NC_000003.12:g.39144447G>A	ExAC,gnomAD
rs780194452	p.Ala159Val	missense variant	-	NC_000003.12:g.39144441G>A	ExAC,gnomAD
rs112352444	p.Ala159Ser	missense variant	-	NC_000003.12:g.39144442C>A	ExAC,TOPMed,gnomAD
rs780194452	p.Ala159Gly	missense variant	-	NC_000003.12:g.39144441G>C	ExAC,gnomAD
rs1314960923	p.Gly160Ala	missense variant	-	NC_000003.12:g.39144438C>G	TOPMed,gnomAD
rs1314960923	p.Gly160Glu	missense variant	-	NC_000003.12:g.39144438C>T	TOPMed,gnomAD
rs758393111	p.Val161Gly	missense variant	-	NC_000003.12:g.39144435A>C	ExAC,gnomAD
rs1287453540	p.Val161Leu	missense variant	-	NC_000003.12:g.39144436C>A	gnomAD
rs1352204708	p.Glu165Gly	missense variant	-	NC_000003.12:g.39144423T>C	gnomAD
rs890879591	p.Leu168Pro	missense variant	-	NC_000003.12:g.39144414A>G	TOPMed,gnomAD
rs890879591	p.Leu168Arg	missense variant	-	NC_000003.12:g.39144414A>C	TOPMed,gnomAD
rs753878701	p.Pro169Ser	missense variant	-	NC_000003.12:g.39144412G>A	ExAC,gnomAD
rs1164695859	p.Pro169Leu	missense variant	-	NC_000003.12:g.39144411G>A	gnomAD
rs1310984541	p.Pro170His	missense variant	-	NC_000003.12:g.39144408G>T	TOPMed
rs145888015	p.Pro170Thr	missense variant	-	NC_000003.12:g.39144409G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1212066771	p.Val171Gly	missense variant	-	NC_000003.12:g.39144405A>C	TOPMed,gnomAD
rs531666797	p.Val171Met	missense variant	-	NC_000003.12:g.39144406C>T	1000Genomes,ExAC,gnomAD
rs1158821849	p.Ala174Thr	missense variant	-	NC_000003.12:g.39144397C>T	gnomAD
rs1473211129	p.Ala174Val	missense variant	-	NC_000003.12:g.39144396G>A	gnomAD
rs1414744505	p.Ile175Val	missense variant	-	NC_000003.12:g.39144394T>C	TOPMed,gnomAD
rs752562774	p.Asp177Asn	missense variant	-	NC_000003.12:g.39144388C>T	ExAC,TOPMed,gnomAD
rs765975625	p.Ala178Asp	missense variant	-	NC_000003.12:g.39144384G>T	ExAC,TOPMed,gnomAD
rs765975625	p.Ala178Val	missense variant	-	NC_000003.12:g.39144384G>A	ExAC,TOPMed,gnomAD
rs759270599	p.Ala178Thr	missense variant	-	NC_000003.12:g.39144385C>T	NCI-TCGA,NCI-TCGA Cosmic
rs759270599	p.Ala178Thr	missense variant	-	NC_000003.12:g.39144385C>T	ExAC,gnomAD
rs762367732	p.Ser179Tyr	missense variant	-	NC_000003.12:g.39144381G>T	ExAC,gnomAD
rs773816035	p.Val180Met	missense variant	-	NC_000003.12:g.39144379C>T	ExAC,TOPMed,gnomAD
rs1331141908	p.Glu182Val	missense variant	-	NC_000003.12:g.39144372T>A	gnomAD
rs1228721603	p.Glu182Lys	missense variant	-	NC_000003.12:g.39144373C>T	gnomAD
rs1331233254	p.Ala185Glu	missense variant	-	NC_000003.12:g.39144363G>T	gnomAD
rs927189569	p.Val186Ile	missense variant	-	NC_000003.12:g.39144361C>T	TOPMed,gnomAD
rs776980215	p.Ala187Thr	missense variant	-	NC_000003.12:g.39144358C>T	ExAC,TOPMed,gnomAD
rs776980215	p.Ala187Ser	missense variant	-	NC_000003.12:g.39144358C>A	ExAC,TOPMed,gnomAD
rs768950919	p.Val188Leu	missense variant	-	NC_000003.12:g.39144355C>G	ExAC,gnomAD
rs749571779	p.Gly190Asp	missense variant	-	NC_000003.12:g.39144348C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly191Ser	missense variant	-	NC_000003.12:g.39144346C>T	NCI-TCGA
rs745915113	p.Arg192Trp	missense variant	-	NC_000003.12:g.39144343G>A	ExAC,TOPMed,gnomAD
rs532218961	p.Arg192Gln	missense variant	-	NC_000003.12:g.39144342C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs532218961	p.Arg192Gln	missense variant	-	NC_000003.12:g.39144342C>T	NCI-TCGA
rs754810673	p.Leu193Ter	stop gained	-	NC_000003.12:g.39144339A>T	ExAC,gnomAD
rs754810673	p.Leu193Trp	missense variant	-	NC_000003.12:g.39144339A>C	ExAC,gnomAD
rs752619572	p.Leu193Val	missense variant	-	NC_000003.12:g.39144340A>C	ExAC,gnomAD
rs751294413	p.Glu194Lys	missense variant	-	NC_000003.12:g.39144337C>T	ExAC,gnomAD
rs765922302	p.Glu195Lys	missense variant	-	NC_000003.12:g.39144334C>T	ExAC
rs765922302	p.Glu195Lys	missense variant	-	NC_000003.12:g.39144334C>T	NCI-TCGA,NCI-TCGA Cosmic
rs941546443	p.Val196Gly	missense variant	-	NC_000003.12:g.39144330A>C	gnomAD
rs560006152	p.Val196Leu	missense variant	-	NC_000003.12:g.39144331C>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser197AlaPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.39144329C>-	NCI-TCGA
NCI-TCGA novel	p.Leu199Pro	missense variant	-	NC_000003.12:g.39144321A>G	NCI-TCGA
rs910032303	p.Gln200Glu	missense variant	-	NC_000003.12:g.39144319G>C	gnomAD
rs1363819613	p.Pro201Ser	missense variant	-	NC_000003.12:g.39144316G>A	gnomAD
rs777108852	p.Tyr202Phe	missense variant	-	NC_000003.12:g.39144312T>A	ExAC,gnomAD
rs1408345052	p.Tyr202His	missense variant	-	NC_000003.12:g.39144313A>G	TOPMed
rs540112925	p.Pro203Leu	missense variant	-	NC_000003.12:g.39144309G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1436798077	p.Pro203Ser	missense variant	-	NC_000003.12:g.39144310G>A	gnomAD
rs1332562517	p.Ala204Thr	missense variant	-	NC_000003.12:g.39144307C>T	gnomAD
rs775832050	p.Arg205Gln	missense variant	-	NC_000003.12:g.39144303C>T	ExAC,gnomAD
rs375176179	p.Arg205Trp	missense variant	-	NC_000003.12:g.39144304G>A	ESP,ExAC,TOPMed,gnomAD
rs746064037	p.Arg206Gln	missense variant	-	NC_000003.12:g.39144300C>T	ExAC,TOPMed,gnomAD
rs1427983004	p.Arg206Ter	stop gained	-	NC_000003.12:g.39144301G>A	gnomAD
rs1427983004	p.Arg206Ter	stop gained	-	NC_000003.12:g.39144301G>A	NCI-TCGA Cosmic
rs779138699	p.Arg207Cys	missense variant	-	NC_000003.12:g.39144298G>A	ExAC,gnomAD
rs1314435386	p.Arg207His	missense variant	-	NC_000003.12:g.39144297C>T	TOPMed
rs757359136	p.Arg208Gln	missense variant	-	NC_000003.12:g.39144294C>T	ExAC,TOPMed,gnomAD
rs1451528917	p.Arg208Ter	stop gained	-	NC_000003.12:g.39144295G>A	TOPMed,gnomAD
rs757359136	p.Arg208Gln	missense variant	-	NC_000003.12:g.39144294C>T	NCI-TCGA,NCI-TCGA Cosmic
rs574676260	p.Ala209Thr	missense variant	-	NC_000003.12:g.39144292C>T	1000Genomes,gnomAD
rs1442935032	p.Leu210Arg	missense variant	-	NC_000003.12:g.39144288A>C	gnomAD
rs1280730335	p.Leu211Met	missense variant	-	NC_000003.12:g.39144286G>T	gnomAD
rs748157430	p.Ala213Thr	missense variant	-	NC_000003.12:g.39144280C>T	ExAC,gnomAD
rs754844331	p.Gly215Asp	missense variant	-	NC_000003.12:g.39144273C>T	ExAC,TOPMed,gnomAD
rs1230198888	p.Arg217Gly	missense variant	-	NC_000003.12:g.39144268G>C	TOPMed,gnomAD
rs1380059383	p.Arg217Gln	missense variant	-	NC_000003.12:g.39144267C>T	gnomAD
rs1230198888	p.Arg217Ter	stop gained	-	NC_000003.12:g.39144268G>A	TOPMed,gnomAD
rs1230198888	p.Arg217Ter	stop gained	-	NC_000003.12:g.39144268G>A	NCI-TCGA
rs751331439	p.Arg218Ser	missense variant	-	NC_000003.12:g.39144263C>G	ExAC,gnomAD
rs1282804841	p.Arg218Lys	missense variant	-	NC_000003.12:g.39144264C>T	gnomAD
rs750030169	p.Asp220Asn	missense variant	-	NC_000003.12:g.39144259C>T	ExAC,TOPMed,gnomAD
rs750030169	p.Asp220His	missense variant	-	NC_000003.12:g.39144259C>G	ExAC,TOPMed,gnomAD
rs1212248365	p.Asp220Gly	missense variant	-	NC_000003.12:g.39144258T>C	TOPMed
rs764784548	p.Asp220Glu	missense variant	-	NC_000003.12:g.39144257A>C	ExAC,gnomAD
rs750030169	p.Asp220Tyr	missense variant	-	NC_000003.12:g.39144259C>A	ExAC,TOPMed,gnomAD
rs200920696	p.Arg221Pro	missense variant	-	NC_000003.12:g.39144255C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200920696	p.Arg221Gln	missense variant	-	NC_000003.12:g.39144255C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200194534	p.Arg221Trp	missense variant	-	NC_000003.12:g.39144256G>A	1000Genomes,ExAC,gnomAD
rs200920696	p.Arg221Leu	missense variant	-	NC_000003.12:g.39144255C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1431890424	p.Glu223Asp	missense variant	-	NC_000003.12:g.39144248C>G	gnomAD
rs142034027	p.Arg225Trp	missense variant	-	NC_000003.12:g.39144244G>A	ESP,ExAC,TOPMed,gnomAD
rs757183769	p.Arg225Gln	missense variant	-	NC_000003.12:g.39144243C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln228Arg	missense variant	-	NC_000003.12:g.39144234T>C	NCI-TCGA
NCI-TCGA novel	p.Ala229Gly	missense variant	-	NC_000003.12:g.39144231G>C	NCI-TCGA
NCI-TCGA novel	p.Leu230Val	missense variant	-	NC_000003.12:g.39144229G>C	NCI-TCGA
rs377641112	p.Arg231Cys	missense variant	-	NC_000003.12:g.39144226G>A	ESP,ExAC,TOPMed,gnomAD
rs377641112	p.Arg231Cys	missense variant	-	NC_000003.12:g.39144226G>A	NCI-TCGA,NCI-TCGA Cosmic
rs371362611	p.Ser233Tyr	missense variant	-	NC_000003.12:g.39144219G>T	ESP,ExAC,TOPMed,gnomAD
rs376235916	p.Arg234Trp	missense variant	-	NC_000003.12:g.39144217G>A	ESP,ExAC,gnomAD
rs768505796	p.Glu235Asp	missense variant	-	NC_000003.12:g.39144212C>A	ExAC,gnomAD
rs1408574666	p.Asp236Asn	missense variant	-	NC_000003.12:g.39144211C>T	TOPMed,gnomAD
rs1408574666	p.Asp236His	missense variant	-	NC_000003.12:g.39144211C>G	TOPMed,gnomAD
rs779723581	p.Cys239Gly	missense variant	-	NC_000003.12:g.39144202A>C	ExAC,gnomAD
rs1411814018	p.His240Tyr	missense variant	-	NC_000003.12:g.39144199G>A	gnomAD
rs778503664	p.Asp242Gly	missense variant	-	NC_000003.12:g.39144192T>C	ExAC,gnomAD
rs558716018	p.Asp242Asn	missense variant	-	NC_000003.12:g.39144193C>T	1000Genomes,ExAC,gnomAD
rs1472231987	p.Asp246His	missense variant	-	NC_000003.12:g.39144181C>G	gnomAD
rs1472231987	p.Asp246Asn	missense variant	-	NC_000003.12:g.39144181C>T	gnomAD
rs763622961	p.Pro247Ser	missense variant	-	NC_000003.12:g.39144178G>A	ExAC,gnomAD
rs753190970	p.Glu248Asp	missense variant	-	NC_000003.12:g.39144173C>G	ExAC,gnomAD
rs1245604657	p.Glu248Ala	missense variant	-	NC_000003.12:g.39144174T>G	gnomAD
rs1452936894	p.Cys250Gly	missense variant	-	NC_000003.12:g.39144169A>C	gnomAD
NCI-TCGA novel	p.Cys250Arg	missense variant	-	NC_000003.12:g.39144169A>G	NCI-TCGA
rs1226886034	p.Ile257Leu	missense variant	-	NC_000003.12:g.39144148T>G	gnomAD
rs1289587036	p.Lys258Arg	missense variant	-	NC_000003.12:g.39144144T>C	gnomAD
rs113251235	p.Lys258Glu	missense variant	-	NC_000003.12:g.39144145T>C	ExAC,TOPMed,gnomAD
rs1353304300	p.His263Gln	missense variant	-	NC_000003.12:g.39144036G>C	gnomAD
rs375810664	p.Thr264Ile	missense variant	-	NC_000003.12:g.39144034G>A	ESP,ExAC,TOPMed,gnomAD
COSM280186	p.Ala265Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39144032C>T	NCI-TCGA Cosmic
rs1434620743	p.Pro267Thr	missense variant	-	NC_000003.12:g.39144026G>T	gnomAD
rs768039738	p.Pro267His	missense variant	-	NC_000003.12:g.39144025G>T	ExAC,gnomAD
rs868504201	p.Arg272Lys	missense variant	-	NC_000003.12:g.39144010C>T	gnomAD
rs1358451625	p.Gly274Asp	missense variant	-	NC_000003.12:g.39144004C>T	gnomAD
rs1400526552	p.Glu276Gln	missense variant	-	NC_000003.12:g.39143999C>G	gnomAD
rs752000496	p.Pro278Ser	missense variant	-	NC_000003.12:g.39143993G>A	ExAC,gnomAD
rs1045645967	p.Met279Thr	missense variant	-	NC_000003.12:g.39143989A>G	TOPMed
rs949881028	p.Gly280Asp	missense variant	-	NC_000003.12:g.39143986C>T	TOPMed
rs188709083	p.Arg281His	missense variant	-	NC_000003.12:g.39143983C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1421409940	p.Arg281Cys	missense variant	-	NC_000003.12:g.39143984G>A	TOPMed
rs1324132635	p.Phe284Val	missense variant	-	NC_000003.12:g.39143975A>C	TOPMed
rs1324132635	p.Phe284Val	missense variant	-	NC_000003.12:g.39143975A>C	NCI-TCGA
NCI-TCGA novel	p.Phe284Cys	missense variant	-	NC_000003.12:g.39143974A>C	NCI-TCGA
rs1394092813	p.Asn285Ser	missense variant	-	NC_000003.12:g.39143971T>C	TOPMed
rs1441697885	p.Val289Ile	missense variant	-	NC_000003.12:g.39143960C>T	TOPMed
rs773551314	p.Thr291Ala	missense variant	-	NC_000003.12:g.39143954T>C	ExAC,gnomAD
rs773551314	p.Thr291Ser	missense variant	-	NC_000003.12:g.39143954T>A	ExAC,gnomAD
rs1325154765	p.Ile294Phe	missense variant	-	NC_000003.12:g.39143945T>A	TOPMed
rs758292915	p.Leu297Phe	missense variant	-	NC_000003.12:g.39143936G>A	ExAC,TOPMed,gnomAD
rs151312697	p.Thr298Ser	missense variant	-	NC_000003.12:g.39143933T>A	ESP,ExAC,TOPMed,gnomAD
rs151312697	p.Thr298Ala	missense variant	-	NC_000003.12:g.39143933T>C	ESP,ExAC,TOPMed,gnomAD
rs978846651	p.Arg299Cys	missense variant	-	NC_000003.12:g.39143930G>A	TOPMed,gnomAD
rs978846651	p.Arg299Ser	missense variant	-	NC_000003.12:g.39143930G>T	TOPMed,gnomAD
rs745767055	p.Arg299His	missense variant	-	NC_000003.12:g.39143929C>T	ExAC,TOPMed,gnomAD
rs978846651	p.Arg299Cys	missense variant	-	NC_000003.12:g.39143930G>A	NCI-TCGA
rs777481412	p.Gln301His	missense variant	-	NC_000003.12:g.39143922C>G	ExAC,gnomAD
rs184024059	p.Gln301Pro	missense variant	-	NC_000003.12:g.39143923T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs777481412	p.Gln301His	missense variant	-	NC_000003.12:g.39143922C>A	ExAC,gnomAD
rs145163556	p.Leu302Ser	missense variant	-	NC_000003.12:g.39143920A>G	ESP,ExAC,TOPMed
rs1394006588	p.Glu303Gln	missense variant	-	NC_000003.12:g.39143918C>G	gnomAD
NCI-TCGA novel	p.Gln304Pro	missense variant	-	NC_000003.12:g.39143914T>G	NCI-TCGA
rs1450104863	p.Glu307Ala	missense variant	-	NC_000003.12:g.39143905T>G	gnomAD
rs747675173	p.Glu307Lys	missense variant	-	NC_000003.12:g.39143906C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser308Ile	missense variant	-	NC_000003.12:g.39143902C>A	NCI-TCGA
rs1167375268	p.Leu312Val	missense variant	-	NC_000003.12:g.39143891G>C	gnomAD
COSM3593796	p.Glu313Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143888C>T	NCI-TCGA Cosmic
rs1430007644	p.Ala314Ser	missense variant	-	NC_000003.12:g.39143885C>A	gnomAD
rs1391573588	p.Pro315Leu	missense variant	-	NC_000003.12:g.39143881G>A	gnomAD
rs780522832	p.Ala316Val	missense variant	-	NC_000003.12:g.39143878G>A	ExAC,TOPMed
rs780522832	p.Ala316Gly	missense variant	-	NC_000003.12:g.39143878G>C	ExAC,TOPMed
rs1474093338	p.Gln317Glu	missense variant	-	NC_000003.12:g.39143876G>C	TOPMed
rs1164008450	p.Gly318Asp	missense variant	-	NC_000003.12:g.39143872C>T	TOPMed
rs200100332	p.Pro323Ser	missense variant	-	NC_000003.12:g.39143858G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367688111	p.Pro323Leu	missense variant	-	NC_000003.12:g.39143857G>A	ESP,ExAC,TOPMed,gnomAD
rs1204437952	p.Ala327Val	missense variant	-	NC_000003.12:g.39143845G>A	gnomAD
rs1253356223	p.Pro330Leu	missense variant	-	NC_000003.12:g.39143836G>A	gnomAD
rs750650484	p.Leu334Val	missense variant	-	NC_000003.12:g.39143825G>C	ExAC,gnomAD
rs1235095342	p.Ala335Val	missense variant	-	NC_000003.12:g.39143821G>A	gnomAD
rs761889545	p.Ala335Thr	missense variant	-	NC_000003.12:g.39143822C>T	ExAC,gnomAD
rs776803093	p.Lys336Asn	missense variant	-	NC_000003.12:g.39143817C>A	ExAC,gnomAD
rs199874965	p.Pro337His	missense variant	-	NC_000003.12:g.39143815G>T	1000Genomes,ExAC,gnomAD
rs987660939	p.Met339Thr	missense variant	-	NC_000003.12:g.39143809A>G	TOPMed,gnomAD
rs1319552416	p.Met339Val	missense variant	-	NC_000003.12:g.39143810T>C	TOPMed
NCI-TCGA novel	p.Met339HisPheSerTerUnk	frameshift	-	NC_000003.12:g.39143810_39143811insG	NCI-TCGA
rs1413291097	p.Asn341Asp	missense variant	-	NC_000003.12:g.39143804T>C	TOPMed
rs759484714	p.Asn341Ser	missense variant	-	NC_000003.12:g.39143803T>C	ExAC,gnomAD
rs1457075773	p.Gly344Arg	missense variant	-	NC_000003.12:g.39143795C>T	gnomAD
rs1368273847	p.Asp345Val	missense variant	-	NC_000003.12:g.39143791T>A	gnomAD
NCI-TCGA novel	p.Asp345Tyr	missense variant	-	NC_000003.12:g.39143792C>A	NCI-TCGA
rs1021153305	p.Cys348Trp	missense variant	-	NC_000003.12:g.39143781G>C	TOPMed
rs892928786	p.Asp351Asn	missense variant	-	NC_000003.12:g.39143774C>T	TOPMed,gnomAD
rs1483448555	p.Asp351Val	missense variant	-	NC_000003.12:g.39143773T>A	gnomAD
rs772791468	p.Met352Val	missense variant	-	NC_000003.12:g.39143771T>C	ExAC,gnomAD
rs769511465	p.Met352Lys	missense variant	-	NC_000003.12:g.39143770A>T	ExAC,gnomAD
rs1265818015	p.Ser355Phe	missense variant	-	NC_000003.12:g.39143761G>A	gnomAD
rs1265818015	p.Ser355Cys	missense variant	-	NC_000003.12:g.39143761G>C	gnomAD
rs144215660	p.Ser356Cys	missense variant	-	NC_000003.12:g.39143758G>C	ESP,ExAC,TOPMed,gnomAD
rs144215660	p.Ser356Phe	missense variant	-	NC_000003.12:g.39143758G>A	ESP,ExAC,TOPMed,gnomAD
rs1287723904	p.Thr357Ile	missense variant	-	NC_000003.12:g.39143755G>A	gnomAD
rs780675519	p.Ala358Glu	missense variant	-	NC_000003.12:g.39143752G>T	ExAC,TOPMed,gnomAD
rs1385903475	p.Ala362Thr	missense variant	-	NC_000003.12:g.39143741C>T	gnomAD
rs750819653	p.Ser363Leu	missense variant	-	NC_000003.12:g.39143737G>A	ExAC,TOPMed,gnomAD
rs750819653	p.Ser363Trp	missense variant	-	NC_000003.12:g.39143737G>C	ExAC,TOPMed,gnomAD
rs757507423	p.Thr365Ile	missense variant	-	NC_000003.12:g.39143731G>A	ExAC,gnomAD
rs1159144287	p.Ala368Thr	missense variant	-	NC_000003.12:g.39143723C>T	gnomAD
rs753951293	p.Ala368Gly	missense variant	-	NC_000003.12:g.39143722G>C	ExAC,gnomAD
rs1376452319	p.Pro369Leu	missense variant	-	NC_000003.12:g.39143719G>A	TOPMed
rs1312593045	p.Pro369Ser	missense variant	-	NC_000003.12:g.39143720G>A	TOPMed
rs1365640405	p.Asp370Ala	missense variant	-	NC_000003.12:g.39143716T>G	gnomAD
rs764216869	p.Pro372Ser	missense variant	-	NC_000003.12:g.39143711G>A	ExAC,TOPMed,gnomAD
rs201834210	p.Pro372Leu	missense variant	-	NC_000003.12:g.39143710G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751541215	p.His374Asn	missense variant	-	NC_000003.12:g.39143705G>T	ExAC,TOPMed,gnomAD
rs751541215	p.His374Tyr	missense variant	-	NC_000003.12:g.39143705G>A	ExAC,TOPMed,gnomAD
rs779358892	p.Pro375Ser	missense variant	-	NC_000003.12:g.39143702G>A	ExAC,TOPMed,gnomAD
rs779358892	p.Pro375Ala	missense variant	-	NC_000003.12:g.39143702G>C	ExAC,TOPMed,gnomAD
rs1463409298	p.Pro375Leu	missense variant	-	NC_000003.12:g.39143701G>A	TOPMed,gnomAD
rs1463409298	p.Pro375Arg	missense variant	-	NC_000003.12:g.39143701G>C	TOPMed,gnomAD
rs762753339	p.Gly376Arg	missense variant	-	NC_000003.12:g.39143699C>G	ExAC,gnomAD
rs527732794	p.Pro378Leu	missense variant	-	NC_000003.12:g.39143692G>A	TOPMed,gnomAD
rs773094089	p.Gly379Ala	missense variant	-	NC_000003.12:g.39143689C>G	ExAC,gnomAD
rs1280693638	p.Pro380Leu	missense variant	-	NC_000003.12:g.39143686G>A	TOPMed
rs769413886	p.Pro384Ala	missense variant	-	NC_000003.12:g.39143675G>C	ExAC,TOPMed,gnomAD
rs769413886	p.Pro384Ser	missense variant	-	NC_000003.12:g.39143675G>A	ExAC,TOPMed,gnomAD
rs1193917470	p.Gly385Ser	missense variant	-	NC_000003.12:g.39143672C>T	TOPMed
rs776416873	p.Val386Ile	missense variant	-	NC_000003.12:g.39143669C>T	ExAC,TOPMed,gnomAD
rs768319111	p.Val386Asp	missense variant	-	NC_000003.12:g.39143668A>T	ExAC,TOPMed,gnomAD
rs1432423237	p.Asp387His	missense variant	-	NC_000003.12:g.39143666C>G	gnomAD
rs1320264430	p.Asp388Gly	missense variant	-	NC_000003.12:g.39143662T>C	gnomAD
rs1363497165	p.Asp388Asn	missense variant	-	NC_000003.12:g.39143663C>T	gnomAD
rs141310941	p.Asp389Asn	missense variant	-	NC_000003.12:g.39143660C>T	ESP,ExAC,TOPMed,gnomAD
rs546791604	p.Ala392Ser	missense variant	-	NC_000003.12:g.39143651C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs546791604	p.Ala392Thr	missense variant	-	NC_000003.12:g.39143651C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs546791604	p.Ala392Pro	missense variant	-	NC_000003.12:g.39143651C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200794258	p.Arg393Pro	missense variant	-	NC_000003.12:g.39143647C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200794258	p.Arg393His	missense variant	-	NC_000003.12:g.39143647C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372981794	p.Arg393Cys	missense variant	-	NC_000003.12:g.39143648G>A	ESP,ExAC,TOPMed,gnomAD
rs756237813	p.Ile394Val	missense variant	-	NC_000003.12:g.39143645T>C	ExAC,gnomAD
rs1199797266	p.Leu395Phe	missense variant	-	NC_000003.12:g.39143640C>G	gnomAD
rs1345154673	p.Phe397Cys	missense variant	-	NC_000003.12:g.39143635A>C	gnomAD
rs1281789075	p.Ser398Asn	missense variant	-	NC_000003.12:g.39143632C>T	TOPMed,gnomAD
rs752801085	p.Ser400Cys	missense variant	-	NC_000003.12:g.39143626G>C	ExAC,TOPMed,gnomAD
rs767549459	p.Gly403Ser	missense variant	-	NC_000003.12:g.39143618C>T	ExAC,gnomAD
rs767549459	p.Gly403Cys	missense variant	-	NC_000003.12:g.39143618C>A	ExAC,gnomAD
rs1332816359	p.Glu405Gly	missense variant	-	NC_000003.12:g.39143611T>C	gnomAD
rs762957828	p.Glu406Ala	missense variant	-	NC_000003.12:g.39143608T>G	ExAC,gnomAD
COSM480074	p.Glu406Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143607C>A	NCI-TCGA Cosmic
rs765144765	p.Glu407Asp	missense variant	-	NC_000003.12:g.39143604C>A	ExAC,gnomAD
rs371907545	p.Glu407Lys	missense variant	-	NC_000003.12:g.39143606C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu407Ter	stop gained	-	NC_000003.12:g.39143606C>A	NCI-TCGA
NCI-TCGA novel	p.Glu409Asp	missense variant	-	NC_000003.12:g.39143598C>A	NCI-TCGA
NCI-TCGA novel	p.Glu410Gln	missense variant	-	NC_000003.12:g.39143597C>G	NCI-TCGA
COSM1044458	p.Glu411Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143594C>T	NCI-TCGA Cosmic
rs201651601	p.Gly412Glu	missense variant	-	NC_000003.12:g.39143590C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1274957	p.Ser413Arg	missense variant	-	NC_000003.12:g.39143586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1250572084	p.Ser413Asn	missense variant	-	NC_000003.12:g.39143587C>T	TOPMed
rs1274957	p.Ser413Arg	missense variant	-	NC_000003.12:g.39143586G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs564965786	p.Val414Met	missense variant	-	NC_000003.12:g.39143585C>T	1000Genomes
rs564965786	p.Val414Leu	missense variant	-	NC_000003.12:g.39143585C>A	1000Genomes
rs1476306227	p.Gly415Val	missense variant	-	NC_000003.12:g.39143581C>A	gnomAD
rs1467186702	p.Gly415Arg	missense variant	-	NC_000003.12:g.39143582C>G	TOPMed
rs775143708	p.Asn416Ser	missense variant	-	NC_000003.12:g.39143578T>C	ExAC,TOPMed,gnomAD
rs1435451355	p.Asp418Gly	missense variant	-	NC_000003.12:g.39143572T>C	TOPMed
rs746445033	p.Asn419Ser	missense variant	-	NC_000003.12:g.39143569T>C	ExAC,gnomAD
rs771368470	p.Cys422Ser	missense variant	-	NC_000003.12:g.39143560C>G	ExAC,gnomAD
rs771368470	p.Cys422Tyr	missense variant	-	NC_000003.12:g.39143560C>T	ExAC,gnomAD
rs749596799	p.His424Tyr	missense variant	-	NC_000003.12:g.39143555G>A	ExAC,gnomAD
rs778065909	p.Ala426Gly	missense variant	-	NC_000003.12:g.39143548G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala426Thr	missense variant	-	NC_000003.12:g.39143549C>T	NCI-TCGA
rs201626609	p.Ile428Leu	missense variant	-	NC_000003.12:g.39143543T>G	ESP,ExAC,TOPMed,gnomAD
rs201626609	p.Ile428Val	missense variant	-	NC_000003.12:g.39143543T>C	ESP,ExAC,TOPMed,gnomAD
rs765060518	p.Thr431Ser	missense variant	-	NC_000003.12:g.39143534T>A	ExAC,TOPMed,gnomAD
rs1356585936	p.Thr431Ile	missense variant	-	NC_000003.12:g.39143533G>A	gnomAD
rs765060518	p.Thr431Ala	missense variant	-	NC_000003.12:g.39143534T>C	ExAC,TOPMed,gnomAD
rs1408137544	p.Gly435Asp	missense variant	-	NC_000003.12:g.39143521C>T	gnomAD
rs1467262976	p.Ser439Arg	missense variant	-	NC_000003.12:g.39143508G>C	gnomAD
rs1329835798	p.Ser439Ile	missense variant	-	NC_000003.12:g.39143509C>A	gnomAD
rs1162367899	p.Tyr444Cys	missense variant	-	NC_000003.12:g.39143494T>C	TOPMed,gnomAD
rs1162367899	p.Tyr444Phe	missense variant	-	NC_000003.12:g.39143494T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser445Tyr	missense variant	-	NC_000003.12:g.39143491G>T	NCI-TCGA
rs757168166	p.Gly446Ser	missense variant	-	NC_000003.12:g.39143489C>T	ExAC,gnomAD
rs545087495	p.Cys447Tyr	missense variant	-	NC_000003.12:g.39143485C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Phe449Leu	missense variant	-	NC_000003.12:g.39143478G>T	NCI-TCGA
COSM730912	p.Thr450Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143476G>A	NCI-TCGA Cosmic
rs375066775	p.Ser451Leu	missense variant	-	NC_000003.12:g.39143473G>A	ESP,ExAC,TOPMed,gnomAD
rs572978133	p.Ser451Pro	missense variant	-	NC_000003.12:g.39143474A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly452Ser	missense variant	-	NC_000003.12:g.39143471C>T	NCI-TCGA
rs1274958	p.Val453Ile	missense variant	-	NC_000003.12:g.39143468C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1274958	p.Val453Ile	missense variant	-	NC_000003.12:g.39143468C>T	UniProt,dbSNP
VAR_055100	p.Val453Ile	missense variant	-	NC_000003.12:g.39143468C>T	UniProt
rs1213101242	p.Val453Asp	missense variant	-	NC_000003.12:g.39143467A>T	TOPMed
NCI-TCGA novel	p.Glu456Lys	missense variant	-	NC_000003.12:g.39143459C>T	NCI-TCGA
NCI-TCGA novel	p.Glu456Asp	missense variant	-	NC_000003.12:g.39143457C>A	NCI-TCGA
rs1209554803	p.Ala458Thr	missense variant	-	NC_000003.12:g.39143453C>T	gnomAD
rs1335890339	p.Asn459Ser	missense variant	-	NC_000003.12:g.39143449T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala462Val	missense variant	-	NC_000003.12:g.39143440G>A	NCI-TCGA
rs199812367	p.Ser463Asn	missense variant	-	NC_000003.12:g.39143437C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1261722861	p.Ser463Arg	missense variant	-	NC_000003.12:g.39143436G>C	TOPMed
rs1227058302	p.Cys464Arg	missense variant	-	NC_000003.12:g.39143435A>G	gnomAD
rs1350000799	p.Cys464Tyr	missense variant	-	NC_000003.12:g.39143434C>T	TOPMed,gnomAD
rs1350000799	p.Cys464Ser	missense variant	-	NC_000003.12:g.39143434C>G	TOPMed,gnomAD
rs749757279	p.Phe465Ile	missense variant	-	NC_000003.12:g.39143432A>T	ExAC,gnomAD
rs1348301356	p.Gly468Asp	missense variant	-	NC_000003.12:g.39143422C>T	gnomAD
rs1196358589	p.Gly468Ser	missense variant	-	NC_000003.12:g.39143423C>T	TOPMed
rs1461828287	p.Gly469Asp	missense variant	-	NC_000003.12:g.39143419C>T	TOPMed,gnomAD
rs770126733	p.Gly472Glu	missense variant	-	NC_000003.12:g.39143410C>T	ExAC,gnomAD
rs770126733	p.Gly472Val	missense variant	-	NC_000003.12:g.39143410C>A	ExAC,gnomAD
rs969780411	p.Ser473Leu	missense variant	-	NC_000003.12:g.39143407G>A	TOPMed
COSM730913	p.Gly476Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143399C>T	NCI-TCGA Cosmic
rs755131354	p.Ser477Asn	missense variant	-	NC_000003.12:g.39143395C>T	ExAC,TOPMed,gnomAD
rs147162469	p.Leu478Phe	missense variant	-	NC_000003.12:g.39143393G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000144229	p.Leu478Phe	missense variant	-	NC_000003.12:g.39143393G>A	ClinVar
rs757146156	p.Thr481Ile	missense variant	-	NC_000003.12:g.39143383G>A	ExAC,gnomAD
rs764039494	p.Ser482Leu	missense variant	-	NC_000003.12:g.39143380G>A	ExAC,TOPMed,gnomAD
rs764039494	p.Ser482Ter	stop gained	-	NC_000003.12:g.39143380G>C	ExAC,TOPMed,gnomAD
rs752439836	p.Val483Leu	missense variant	-	NC_000003.12:g.39143378C>G	ExAC,gnomAD
rs752439836	p.Val483Met	missense variant	-	NC_000003.12:g.39143378C>T	ExAC,gnomAD
rs1232917006	p.Pro484Leu	missense variant	-	NC_000003.12:g.39143374G>A	TOPMed
rs371134715	p.Pro484Ala	missense variant	-	NC_000003.12:g.39143375G>C	ESP,ExAC,gnomAD
rs371134715	p.Pro484Ser	missense variant	-	NC_000003.12:g.39143375G>A	ESP,ExAC,gnomAD
rs1225596715	p.Ser486Arg	missense variant	-	NC_000003.12:g.39143369T>G	gnomAD
rs759182414	p.Ser486Ile	missense variant	-	NC_000003.12:g.39143368C>A	ExAC,gnomAD
rs1274527414	p.Met487Val	missense variant	-	NC_000003.12:g.39143366T>C	gnomAD
rs763468626	p.Asp488Glu	missense variant	-	NC_000003.12:g.39143361G>T	ExAC,TOPMed,gnomAD
rs773768262	p.Asp488Gly	missense variant	-	NC_000003.12:g.39143362T>C	ExAC,gnomAD
rs145148130	p.Ala489Val	missense variant	-	NC_000003.12:g.39143359G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145148130	p.Ala489Gly	missense variant	-	NC_000003.12:g.39143359G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1213805679	p.Ala489Thr	missense variant	-	NC_000003.12:g.39143360C>T	TOPMed
rs1456644721	p.Gly490Asp	missense variant	-	NC_000003.12:g.39143356C>T	gnomAD
rs199566978	p.Arg491Gln	missense variant	-	NC_000003.12:g.39143353C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748487431	p.Arg491Trp	missense variant	-	NC_000003.12:g.39143354G>A	ExAC,TOPMed,gnomAD
rs1255862857	p.Ser494Leu	missense variant	-	NC_000003.12:g.39143344G>A	TOPMed
rs377548334	p.Leu499Phe	missense variant	-	NC_000003.12:g.39143328C>G	ESP,gnomAD
NCI-TCGA novel	p.Leu499Val	missense variant	-	NC_000003.12:g.39143330A>C	NCI-TCGA
rs1455264417	p.Ser500Phe	missense variant	-	NC_000003.12:g.39143326G>A	gnomAD
rs747186948	p.Asp503Gly	missense variant	-	NC_000003.12:g.39143317T>C	ExAC,gnomAD
rs558531976	p.Phe505Leu	missense variant	-	NC_000003.12:g.39143310A>T	1000Genomes
rs1415582009	p.Glu506Ala	missense variant	-	NC_000003.12:g.39143308T>G	TOPMed
NCI-TCGA novel	p.Ala510LeuPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.39143297C>-	NCI-TCGA
NCI-TCGA novel	p.Leu511Val	missense variant	-	NC_000003.12:g.39143294G>C	NCI-TCGA
rs1218523455	p.Tyr514Phe	missense variant	-	NC_000003.12:g.39143284T>A	TOPMed,gnomAD
rs768820347	p.Ser515Thr	missense variant	-	NC_000003.12:g.39143281C>G	TOPMed
rs780011728	p.Leu516Met	missense variant	-	NC_000003.12:g.39143279G>T	ExAC,gnomAD
rs913212988	p.Gly517Arg	missense variant	-	NC_000003.12:g.39143276C>G	TOPMed
rs538715292	p.Pro518Thr	missense variant	-	NC_000003.12:g.39143273G>T	1000Genomes,ExAC,gnomAD
rs538715292	p.Pro518Ser	missense variant	-	NC_000003.12:g.39143273G>A	1000Genomes,ExAC,gnomAD
rs1295147315	p.Gln523Pro	missense variant	-	NC_000003.12:g.39143257T>G	gnomAD
rs1290599589	p.Ser526Thr	missense variant	-	NC_000003.12:g.39143249A>T	gnomAD
rs1445699545	p.Asp527Gly	missense variant	-	NC_000003.12:g.39143245T>C	gnomAD
rs756024543	p.Ser528Thr	missense variant	-	NC_000003.12:g.39143242C>G	ExAC,TOPMed,gnomAD
rs756024543	p.Ser528Asn	missense variant	-	NC_000003.12:g.39143242C>T	ExAC,TOPMed,gnomAD
rs1312908010	p.Ile532Val	missense variant	-	NC_000003.12:g.39143231T>C	TOPMed,gnomAD
rs372252051	p.Ile532Met	missense variant	-	NC_000003.12:g.39143229G>C	ESP,ExAC,TOPMed,gnomAD
rs1167568904	p.Glu533Lys	missense variant	-	NC_000003.12:g.39143228C>T	gnomAD
rs1428337873	p.Glu533Gly	missense variant	-	NC_000003.12:g.39143227T>C	gnomAD
rs781003783	p.Pro535Leu	missense variant	-	NC_000003.12:g.39143221G>A	ExAC,TOPMed,gnomAD
rs1188823766	p.His536Arg	missense variant	-	NC_000003.12:g.39143218T>C	gnomAD
rs754593845	p.Phe537Leu	missense variant	-	NC_000003.12:g.39143214G>T	ExAC,TOPMed,gnomAD
rs754593845	p.Phe537Leu	missense variant	-	NC_000003.12:g.39143214G>C	ExAC,TOPMed,gnomAD
rs201765293	p.Gly541Ser	missense variant	-	NC_000003.12:g.39143204C>T	1000Genomes,ExAC,gnomAD
rs1486686309	p.Gly541Ala	missense variant	-	NC_000003.12:g.39143203C>G	gnomAD
rs762414194	p.Leu542Pro	missense variant	-	NC_000003.12:g.39143200A>G	ExAC,gnomAD
rs1354977825	p.Ser543Phe	missense variant	-	NC_000003.12:g.39143197G>A	TOPMed
rs1226565729	p.Pro544Leu	missense variant	-	NC_000003.12:g.39143194G>A	gnomAD
COSM3593792	p.Pro545Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143191G>A	NCI-TCGA Cosmic
rs1219438525	p.Gly546Arg	missense variant	-	NC_000003.12:g.39143189C>T	TOPMed
rs1016123717	p.Gly546Ala	missense variant	-	NC_000003.12:g.39143188C>G	gnomAD
rs1016123717	p.Gly546Glu	missense variant	-	NC_000003.12:g.39143188C>T	gnomAD
NCI-TCGA novel	p.Gly546Trp	missense variant	-	NC_000003.12:g.39143189C>A	NCI-TCGA
COSM5864489	p.Ala548Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143183C>T	NCI-TCGA Cosmic
rs762266789	p.Phe552Ser	missense variant	-	NC_000003.12:g.39143170A>G	ExAC,TOPMed,gnomAD
rs990113401	p.Ser555Phe	missense variant	-	NC_000003.12:g.39143161G>A	TOPMed
rs201069132	p.Ser560Pro	missense variant	-	NC_000003.12:g.39143147A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser560Cys	missense variant	-	NC_000003.12:g.39143146G>C	NCI-TCGA
rs577008244	p.Glu561Lys	missense variant	-	NC_000003.12:g.39143144C>T	gnomAD
rs868231312	p.Pro562Ser	missense variant	-	NC_000003.12:g.39143141G>A	gnomAD
rs112383054	p.Ala564Thr	missense variant	-	NC_000003.12:g.39143135C>T	ESP,ExAC,TOPMed,gnomAD
rs112383054	p.Ala564Pro	missense variant	-	NC_000003.12:g.39143135C>G	ESP,ExAC,TOPMed,gnomAD
rs1195460382	p.Glu565Lys	missense variant	-	NC_000003.12:g.39143132C>T	TOPMed,gnomAD
rs1440306652	p.Glu565Gly	missense variant	-	NC_000003.12:g.39143131T>C	TOPMed
rs1195460382	p.Glu565Ter	stop gained	-	NC_000003.12:g.39143132C>A	TOPMed,gnomAD
rs1024021437	p.Ala566Val	missense variant	-	NC_000003.12:g.39143128G>A	TOPMed
rs1252855900	p.Leu567Arg	missense variant	-	NC_000003.12:g.39143125A>C	gnomAD
rs780866317	p.Asp568Tyr	missense variant	-	NC_000003.12:g.39143123C>A	ExAC,gnomAD
rs780866317	p.Asp568Asn	missense variant	-	NC_000003.12:g.39143123C>T	ExAC,gnomAD
COSM1692615	p.Pro569Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143120G>A	NCI-TCGA Cosmic
rs1001697783	p.Asp572Glu	missense variant	-	NC_000003.12:g.39143109G>C	TOPMed,gnomAD
rs1377735772	p.Asp572Asn	missense variant	-	NC_000003.12:g.39143111C>T	TOPMed
rs1013929707	p.Phe575Ser	missense variant	-	NC_000003.12:g.39143101A>G	TOPMed
rs1235040749	p.Phe575Val	missense variant	-	NC_000003.12:g.39143102A>C	gnomAD
rs368077080	p.Thr578Ala	missense variant	-	NC_000003.12:g.39143093T>C	ESP,ExAC,TOPMed,gnomAD
rs751206841	p.Ala581Pro	missense variant	-	NC_000003.12:g.39143084C>G	ExAC,TOPMed,gnomAD
rs751206841	p.Ala581Thr	missense variant	-	NC_000003.12:g.39143084C>T	ExAC,TOPMed,gnomAD
rs202204996	p.Ser582Tyr	missense variant	-	NC_000003.12:g.39143080G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202204996	p.Ser582Cys	missense variant	-	NC_000003.12:g.39143080G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs202204996	p.Ser582Phe	missense variant	-	NC_000003.12:g.39143080G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1328240	p.Leu583Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143078G>C	NCI-TCGA Cosmic
rs762320018	p.Met584Ile	missense variant	-	NC_000003.12:g.39143073C>T	ExAC,gnomAD
rs1463426097	p.Met584Val	missense variant	-	NC_000003.12:g.39143075T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu585Lys	missense variant	-	NC_000003.12:g.39143072C>T	NCI-TCGA
rs1181089321	p.Pro586Leu	missense variant	-	NC_000003.12:g.39143068G>A	gnomAD
rs1458706673	p.Val587Met	missense variant	-	NC_000003.12:g.39143066C>T	TOPMed
rs764432988	p.Pro588Leu	missense variant	-	NC_000003.12:g.39143062G>A	ExAC,TOPMed,gnomAD
rs764432988	p.Pro588Arg	missense variant	-	NC_000003.12:g.39143062G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro588AlaPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.39143064_39143065insT	NCI-TCGA
rs772447030	p.Val589Met	missense variant	-	NC_000003.12:g.39143060C>T	ExAC,TOPMed,gnomAD
rs1467909172	p.Val589Ala	missense variant	-	NC_000003.12:g.39143059A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0007102	Malignant tumor of colon	disease	BEFREE
C0007193	Cardiomyopathy, Dilated	group	CTD_human
C0023434	Chronic Lymphocytic Leukemia	disease	GWASCAT
C1449563	Cardiomyopathy, Familial Idiopathic	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003674	molecular_function	ND
GO:0003700	DNA-binding transcription factor activity	ISS
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006915	apoptotic process	NAS
GO:0009791	post-embryonic development	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA
GO:0048705	skeletal system morphogenesis	IEA
GO:0060021	roof of mouth development	IEA
GO:0060325	face morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of CSRNP1 mRNA	28329830
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of CSRNP1 mRNA	19933214
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CSRNP1 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of CSRNP1 mRNA	19150397
C496492	abrine	abrine results in increased expression of CSRNP1 mRNA	31054353
D000079	Acetaldehyde	Acetaldehyde results in increased expression of CSRNP1 mRNA	23416264
D000082	Acetaminophen	Acetaminophen results in increased expression of CSRNP1 mRNA	21420995; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of CSRNP1 mRNA	17562736
D020106	Acrylamide	Acrylamide results in increased expression of CSRNP1 mRNA	30807115
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of CSRNP1 mRNA	24449571
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite affects the expression of CSRNP1 mRNA	25757056
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of CSRNP1 mRNA	18687144
D001280	Atrazine	Atrazine results in increased expression of CSRNP1 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of CSRNP1 mRNA	20064835
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of CSRNP1 mRNA	21569818
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of CSRNP1 mRNA	26377693
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of CSRNP1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of CSRNP1 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of CSRNP1 mRNA	25594700
C006780	bisphenol A	bisphenol A results in increased expression of CSRNP1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of CSRNP1 mRNA	25181051
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of CSRNP1 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of CSRNP1 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in increased expression of CSRNP1 mRNA	26079696
C584509	C646 compound	C646 compound results in decreased expression of CSRNP1 mRNA	26191083
D019256	Cadmium Chloride	Cadmium Chloride affects the expression of CSRNP1 mRNA	22110744
D002117	Calcitriol	Calcitriol results in increased expression of CSRNP1 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in increased expression of CSRNP1 mRNA	21592394
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of CSRNP1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of CSRNP1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of CSRNP1 mRNA	27594783
C018021	cobaltous chloride	cobaltous chloride results in increased expression of CSRNP1 mRNA	24386269
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of CSRNP1 mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in increased expression of CSRNP1 mRNA	19549813
D003471	Cuprizone	Cuprizone results in decreased expression of CSRNP1 mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in increased expression of CSRNP1 mRNA	20106945; 25562108;
D004041	Dietary Fats	Dietary Fats results in decreased expression of CSRNP1 mRNA	29346762
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CSRNP1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of CSRNP1 mRNA	29803840
D004317	Doxorubicin	Doxorubicin results in increased expression of CSRNP1 mRNA	16243910; 25896364;
D052244	Endocrine Disruptors	Endocrine Disruptors results in decreased expression of CSRNP1 mRNA	25198161
D004726	Endosulfan	Endosulfan results in increased expression of CSRNP1 mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of CSRNP1 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of CSRNP1 mRNA	25210133
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of CSRNP1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CSRNP1 mRNA	17942748
D017313	Fenretinide	Fenretinide results in increased expression of CSRNP1 mRNA	28973697
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of CSRNP1 mRNA	28329830
D005557	Formaldehyde	Formaldehyde results in increased expression of CSRNP1 mRNA	23649840
D005947	Glucose	Glucose results in increased expression of CSRNP1 mRNA	17178593
C000593030	GSK-J4	GSK-J4 results in increased expression of CSRNP1 mRNA	29301935
C492448	ICG 001	ICG 001 results in decreased expression of CSRNP1 mRNA	26191083
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of CSRNP1 mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of CSRNP1 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of CSRNP1 mRNA	23086925
D019344	Lactic Acid	Lactic Acid results in decreased expression of CSRNP1 mRNA	30851411
D000077339	Leflunomide	Leflunomide results in increased expression of CSRNP1 mRNA	28988120
D000077339	Leflunomide	Leflunomide results in increased expression of CSRNP1 mRNA	24136188
D008627	Mercuric Chloride	Mercuric Chloride results in increased expression of CSRNP1 mRNA	16507785
D008701	Methapyrilene	Methapyrilene results in increased expression of CSRNP1 mRNA	30467583
D008777	Methyltestosterone	Methyltestosterone results in increased expression of CSRNP1 mRNA	29191790
C000622638	MLN7243	MLN7243 results in increased sumoylation of CSRNP1 protein	31285264
D009151	Mustard Gas	Mustard Gas affects the expression of CSRNP1 mRNA	15651846
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in increased expression of CSRNP1 mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog affects the expression of CSRNP1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of CSRNP1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of CSRNP1 mRNA	25554681; 25620056;
C022838	nickel chloride	nickel chloride affects the expression of CSRNP1 mRNA	22546817
C028007	nickel monoxide	nickel monoxide results in decreased expression of CSRNP1 mRNA	19167457
D009534	Niclosamide	Niclosamide results in increased expression of CSRNP1 mRNA	28284560
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of CSRNP1 mRNA	20971185
D009966	Orphenadrine	Orphenadrine affects the expression of CSRNP1 mRNA	23665939
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of CSRNP1 mRNA	25729387
C472349	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine affects the expression of CSRNP1 mRNA	17655762
C472349	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine promotes the reaction [Particulate Matter affects the expression of CSRNP1 mRNA]	17655762
C472349	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine promotes the reaction [Vehicle Emissions affects the expression of CSRNP1 mRNA]	17655762
C472349	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	Particulate Matter promotes the reaction [oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine affects the expression of CSRNP1 mRNA]	17655762
C472349	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	Vehicle Emissions promotes the reaction [oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine affects the expression of CSRNP1 mRNA]	17655762
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of CSRNP1 mRNA	30529165
D052638	Particulate Matter	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine promotes the reaction [Particulate Matter affects the expression of CSRNP1 mRNA]	17655762
D052638	Particulate Matter	Particulate Matter affects the expression of CSRNP1 mRNA	17655762
D052638	Particulate Matter	Particulate Matter promotes the reaction [oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine affects the expression of CSRNP1 mRNA]	17655762
D052638	Particulate Matter	Particulate Matter results in increased expression of CSRNP1 mRNA	29703138
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of CSRNP1 mRNA	18593933
C046012	pentanal	pentanal results in increased expression of CSRNP1 mRNA	26079696
D010634	Phenobarbital	Phenobarbital results in decreased expression of CSRNP1 mRNA	19270015
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CSRNP1 mRNA	27188386
C006253	pirinixic acid	pirinixic acid results in decreased expression of CSRNP1 mRNA	23811191
D010938	Plant Oils	Plant Oils results in increased expression of CSRNP1 mRNA	23370395
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of CSRNP1 mRNA	28903501
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of CSRNP1 mRNA	27029645
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of CSRNP1 mRNA	23806026
D012834	Silver	Silver results in increased expression of CSRNP1 mRNA	27131904
C009277	sodium arsenate	sodium arsenate results in decreased expression of CSRNP1 mRNA	30953684
D012999	Soman	Soman results in increased expression of CSRNP1 mRNA	19281266
D053260	Soot	Soot results in increased expression of CSRNP1 mRNA	26551751
D000077210	Sunitinib	Sunitinib results in increased expression of CSRNP1 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of CSRNP1 mRNA	31299295
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in increased expression of CSRNP1 mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of CSRNP1 mRNA	21592394
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CSRNP1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CSRNP1 mRNA	19933214
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of CSRNP1 mRNA	24058054
D013750	Tetrachloroethylene	Tetrachloroethylene results in increased expression of CSRNP1 mRNA	28973375
D019284	Thapsigargin	Thapsigargin results in increased expression of CSRNP1 mRNA	29453283
C009495	titanium dioxide	titanium dioxide results in increased expression of CSRNP1 mRNA	23409001
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased methylation of CSRNP1 gene	26756918
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of CSRNP1 mRNA	28065790
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of CSRNP1 mRNA	25729387
C483909	torcetrapib	torcetrapib results in increased expression of CSRNP1 mRNA	23228038
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of CSRNP1 mRNA	30951980
D014260	Triclosan	Triclosan results in increased expression of CSRNP1 mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of CSRNP1 mRNA	26179874
D000077288	Troglitazone	Troglitazone results in decreased expression of CSRNP1 mRNA	28973697
D014415	Tunicamycin	Tunicamycin results in increased expression of CSRNP1 mRNA	17127020
D014520	Urethane	Urethane results in increased expression of CSRNP1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased methylation of CSRNP1 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of CSRNP1 mRNA	28001369; 29154799;
D001335	Vehicle Emissions	oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine promotes the reaction [Vehicle Emissions affects the expression of CSRNP1 mRNA]	17655762
D001335	Vehicle Emissions	Vehicle Emissions affects the expression of CSRNP1 mRNA	17655762
D001335	Vehicle Emissions	Vehicle Emissions promotes the reaction [oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine affects the expression of CSRNP1 mRNA]	17655762
C025643	vinclozolin	vinclozolin results in decreased expression of CSRNP1 mRNA	23034163
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical results in decreased expression of CSRNP1 mRNA	25198161
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of CSRNP1 mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0053	Apoptosis
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR031972	CSRNP_N
IPR023260	Cys/Ser-rich_nuc_prot

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF16019	CSRNP_N

Gene: CSRNP1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction