CleftGeneDB-Search

Gene: PAX7

Basic information

Tag	Content
Uniprot ID	P23759; E9PFV9; Q0VA99; Q2PJS5;
Entrez ID	5081
Genbank protein ID	ABC48797.1; AAI21166.1; AAI21167.1; CAA65520.1; CAA84513.1; CAA65521.1; CAA65522.1; EAW94853.1;
Genbank nucleotide ID	NM_013945.2; NM_001135254.1; NM_002584.2;
Ensembl protein ID	ENSP00000383502; ENSP00000364524; ENSP00000403389;
Ensembl nucleotide ID	ENSG00000009709
Gene name	Paired box protein Pax-7
Gene symbol	PAX7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	27033726; 25704602; 25081408; 19142206; 23463464;
Functional description	Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.
Sequence	MAALPGTVPR MMRPAPGQNY PRTGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV 60 EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPRQVA TPDVEKKIEE 120 YKRENPGMFS WEIRDRLLKD GHCDRSTVPS GLVSSISRVL RIKFGKKEEE DEADKKEDDG 180 EKKAKHSIDG ILGDKGNRLD EGSDVESEPD LPLKRKQRRS RTTFTAEQLE ELEKAFERTH 240 YPDIYTREEL AQRTKLTEAR VQVWFSNRRA RWRKQAGANQ LAAFNHLLPG GFPPTGMPTL 300 PPYQLPDSTY PTTTISQDGG STVHRPQPLP PSTMHQGGLA AAAAAADTSS AYGARHSFSS 360 YSDSFMNPAA PSNHMNPVSN GLSPQVMSIL GNPSAVPPQP QADFSISPLH GGLDSATSIS 420 ASCSQRADSI KPGDSLPTSQ AYCPPTYSTT GYSVDPVAGY QYGQYGQTAV DYLAKNVSLS 480 TQRRMKLGEH SAVLGLLPVE TGQAY 505

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	PAX7		E1BKL5		Bos taurus	Prediction	More>>
1:1 ortholog	PAX7	102172220	A0A452FU61		Capra hircus	Prediction	More>>
1:1 ortholog	PAX7	5081	P23759	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Pax7	18509	P47239	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PAX7	456574	H2PY64		Pan troglodytes	Prediction	More>>
1:1 ortholog	Pax7		A0A1S6QCC5		Sus scrofa	Prediction	More>>
1:1 ortholog	Pax7	500574	D3ZRA8		Rattus norvegicus	Prediction	More>>
1:1 ortholog	pax7a		B3DJI1		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PAX7	c.1451G>A; p.R484H	WES and Sanger sequencing	26449438
PAX7	rs6659735	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.189614G>C; p.G411R	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.189617G>A; p.G412S	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.62366G>A; p.G466S	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.88401C>T	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.18438C>A	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.957713C>T	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.958083C>A	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.957933C>T	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.72014C>A	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.72317G>A	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.189576C>T; p.P397L	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.958104G>A; p.A3T	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.958140G>A; p.A15T	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.958168G>A; p.G24E	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.961014T>C	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.961088G>T	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.961515C>*	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.29895A>T	Genotyping; direct sequencing; and TDT	23463464
PAX7	c.62129A>C; p.M387L	Genotyping; direct sequencing; and TDT	23463464
PAX7	rs1339062; c.586+15617T>C	GWAS	31173442
PAX7	c.87G>A; p.Val29Val	Direct seqencing	31173442
PAX7	rs2076020; c.744G>A; p.Glu248Glu	Direct seqencing	31173442
PAX7	rs2076019; c.771A>C; p.Thr257Thr	Direct seqencing	31173442
PAX7	rs2743201; c.879A>G; p.Pro293Pro	Direct seqencing	31173442
PAX7	rs138007970; c.1155+36G>T	Direct seqencing	31173442
PAX7	rs766325	Genotyping and TDT	19142206
PAX7	c.766C>T; p.Ala259Val	GWAS and Sanger sequencing	25704602
PAX7	c.1396G>A; p.Gly466Ser	GWAS	25081408
PAX7	c.1282G>A; p.Asp428Asn	GWAS	25081408
PAX7	c.952+2T>A	GWAS	25081408
PAX7	rs4920524;	Genotyping and GWAS	27033726
PAX7	rs9439714;	Genotyping and GWAS	27033726
PAX7	rs12402156	Genotyping and GWAS	27033726
PAX7	rs6658147	Genotyping and GWAS	27033726

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1010934600	p.Ala2Val	missense variant	-	NC_000001.11:g.18631608C>T	gnomAD
rs900671673	p.Ala2Thr	missense variant	-	NC_000001.11:g.18631607G>A	TOPMed,gnomAD
rs1010934600	p.Ala2Glu	missense variant	-	NC_000001.11:g.18631608C>A	gnomAD
rs900671673	p.Ala2Thr	missense variant	-	NC_000001.11:g.18631607G>A	NCI-TCGA Cosmic
rs900671673	p.Ala2Pro	missense variant	-	NC_000001.11:g.18631607G>C	TOPMed,gnomAD
rs1408219425	p.Ala3Thr	missense variant	-	NC_000001.11:g.18631610G>A	TOPMed
rs529809505	p.Ala3Gly	missense variant	-	NC_000001.11:g.18631611C>G	1000Genomes,ExAC,gnomAD
rs1020540728	p.Leu4Pro	missense variant	-	NC_000001.11:g.18631614T>C	gnomAD
rs751581027	p.Gly6Ala	missense variant	-	NC_000001.11:g.18631620G>C	ExAC,gnomAD
rs1233016020	p.Thr7Met	missense variant	-	NC_000001.11:g.18631623C>T	TOPMed,gnomAD
rs1053554548	p.Pro9Ser	missense variant	-	NC_000001.11:g.18631628C>T	TOPMed,gnomAD
rs748250427	p.Pro9Arg	missense variant	-	NC_000001.11:g.18631629C>G	ExAC,gnomAD
rs1245015415	p.Met11Val	missense variant	-	NC_000001.11:g.18631634A>G	TOPMed
rs1487673028	p.Met12Leu	missense variant	-	NC_000001.11:g.18631637A>T	gnomAD
NCI-TCGA novel	p.Met12Val	missense variant	-	NC_000001.11:g.18631637A>G	NCI-TCGA
rs1263376207	p.Arg13Gln	missense variant	-	NC_000001.11:g.18631641G>A	gnomAD
rs566629103	p.Pro14Leu	missense variant	-	NC_000001.11:g.18631644C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs566629103	p.Pro14Gln	missense variant	-	NC_000001.11:g.18631644C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs778012759	p.Pro14Thr	missense variant	-	NC_000001.11:g.18631643C>A	ExAC,TOPMed,gnomAD
rs1156773115	p.Ala15Thr	missense variant	-	NC_000001.11:g.18631646G>A	gnomAD
rs1360031571	p.Ala15Val	missense variant	-	NC_000001.11:g.18631647C>T	TOPMed,gnomAD
rs746324287	p.Pro16Ala	missense variant	-	NC_000001.11:g.18631649C>G	ExAC,gnomAD
rs1033982888	p.Pro16Leu	missense variant	-	NC_000001.11:g.18631650C>T	gnomAD
rs1033982888	p.Pro16Arg	missense variant	-	NC_000001.11:g.18631650C>G	gnomAD
rs1304640961	p.Gly17Trp	missense variant	-	NC_000001.11:g.18631652G>T	gnomAD
rs776238209	p.Asn19Ser	missense variant	-	NC_000001.11:g.18631659A>G	ExAC,gnomAD
rs200862549	p.Asn19Lys	missense variant	-	NC_000001.11:g.18631660C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs764959341	p.Arg22Ser	missense variant	-	NC_000001.11:g.18631667C>A	ExAC,TOPMed,gnomAD
rs764959341	p.Arg22Gly	missense variant	-	NC_000001.11:g.18631667C>G	ExAC,TOPMed,gnomAD
rs552417333	p.Arg22Leu	missense variant	-	NC_000001.11:g.18631668G>T	1000Genomes,ExAC,gnomAD
rs764959341	p.Arg22Cys	missense variant	-	NC_000001.11:g.18631667C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg22AlaPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.18631663C>-	NCI-TCGA
rs762651087	p.Thr23Met	missense variant	-	NC_000001.11:g.18631671C>T	ExAC,gnomAD
rs1208860030	p.Gly24Arg	missense variant	-	NC_000001.11:g.18631673G>A	gnomAD
rs1208860030	p.Gly24Arg	missense variant	-	NC_000001.11:g.18631673G>A	NCI-TCGA
rs1250059656	p.Phe25Tyr	missense variant	-	NC_000001.11:g.18631677T>A	TOPMed
rs1455400108	p.Phe25Ile	missense variant	-	NC_000001.11:g.18631676T>A	gnomAD
rs570631887	p.Pro26Ala	missense variant	-	NC_000001.11:g.18631679C>G	1000Genomes,ExAC,gnomAD
rs570631887	p.Pro26Ser	missense variant	-	NC_000001.11:g.18631679C>T	1000Genomes,ExAC,gnomAD
rs1419562715	p.Val29Met	missense variant	-	NC_000001.11:g.18631688G>A	gnomAD
rs1307853137	p.Ser30Phe	missense variant	-	NC_000001.11:g.18634306C>T	gnomAD
rs145325556	p.Pro32Gln	missense variant	-	NC_000001.11:g.18634312C>A	ESP,ExAC,TOPMed,gnomAD
rs145325556	p.Pro32Leu	missense variant	-	NC_000001.11:g.18634312C>T	ESP,ExAC,TOPMed,gnomAD
rs777288492	p.Leu33Phe	missense variant	-	NC_000001.11:g.18634314C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly36Ser	missense variant	-	NC_000001.11:g.18634323G>A	NCI-TCGA
rs140779169	p.Arg37Pro	missense variant	-	NC_000001.11:g.18634327G>C	ESP,ExAC,TOPMed,gnomAD
rs140779169	p.Arg37Gln	missense variant	-	NC_000001.11:g.18634327G>A	ESP,ExAC,TOPMed,gnomAD
rs748780342	p.Arg37Trp	missense variant	-	NC_000001.11:g.18634326C>T	ExAC,gnomAD
rs1351630881	p.Val38Phe	missense variant	-	NC_000001.11:g.18634329G>T	TOPMed
rs1193215383	p.Val38Ala	missense variant	-	NC_000001.11:g.18634330T>C	gnomAD
rs1420722398	p.Gln40Arg	missense variant	-	NC_000001.11:g.18634336A>G	gnomAD
NCI-TCGA novel	p.Gln40Ter	stop gained	-	NC_000001.11:g.18634335C>T	NCI-TCGA
rs773926036	p.Leu41Val	missense variant	-	NC_000001.11:g.18634338C>G	ExAC,gnomAD
rs895698878	p.Gly43Ala	missense variant	-	NC_000001.11:g.18634345G>C	TOPMed
NCI-TCGA novel	p.Gly43Arg	missense variant	-	NC_000001.11:g.18634344G>A	NCI-TCGA
rs1451904879	p.Val44Ile	missense variant	-	NC_000001.11:g.18634347G>A	TOPMed
rs1435811742	p.Ile46Thr	missense variant	-	NC_000001.11:g.18634354T>C	gnomAD
rs141114867	p.Arg49Gln	missense variant	-	NC_000001.11:g.18634363G>A	ESP,TOPMed,gnomAD
rs146503374	p.Arg49Ter	stop gained	-	NC_000001.11:g.18634362C>T	ESP,ExAC,TOPMed,gnomAD
rs760553363	p.Pro50Ala	missense variant	-	NC_000001.11:g.18634365C>G	ExAC,gnomAD
rs201315560	p.Pro52Ser	missense variant	-	NC_000001.11:g.18634371C>T	ExAC,TOPMed,gnomAD
rs1347061851	p.Asn53Ser	missense variant	-	NC_000001.11:g.18634375A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asn53His	missense variant	-	NC_000001.11:g.18634374A>C	NCI-TCGA
rs765482064	p.His54Tyr	missense variant	-	NC_000001.11:g.18634377C>T	ExAC,gnomAD
rs750738891	p.Arg56His	missense variant	-	NC_000001.11:g.18634384G>A	ExAC,TOPMed,gnomAD
rs1392068839	p.Arg56Cys	missense variant	-	NC_000001.11:g.18634383C>T	NCI-TCGA
rs750738891	p.Arg56Leu	missense variant	-	NC_000001.11:g.18634384G>T	ExAC,TOPMed,gnomAD
rs1392068839	p.Arg56Cys	missense variant	-	NC_000001.11:g.18634383C>T	TOPMed
rs758697873	p.Lys58Arg	missense variant	-	NC_000001.11:g.18634390A>G	ExAC,gnomAD
COSM75853	p.Val60Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18634395G>C	NCI-TCGA Cosmic
rs905723129	p.Val60Glu	missense variant	-	NC_000001.11:g.18634396T>A	TOPMed
NCI-TCGA novel	p.Glu61Asp	missense variant	-	NC_000001.11:g.18634400G>C	NCI-TCGA
rs1394269546	p.Met62Ile	missense variant	-	NC_000001.11:g.18634403G>T	TOPMed
rs1447737837	p.Ala63Val	missense variant	-	NC_000001.11:g.18634405C>T	TOPMed
rs1311783089	p.His64Tyr	missense variant	-	NC_000001.11:g.18634407C>T	TOPMed
NCI-TCGA novel	p.His64ThrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.18634405C>-	NCI-TCGA
rs961831526	p.His65Tyr	missense variant	-	NC_000001.11:g.18634410C>T	gnomAD
rs1374679072	p.His65Arg	missense variant	-	NC_000001.11:g.18634411A>G	TOPMed
NCI-TCGA novel	p.Gly66Asp	missense variant	-	NC_000001.11:g.18634414G>A	NCI-TCGA
rs1476493262	p.Ile67Met	missense variant	-	NC_000001.11:g.18634418C>G	gnomAD
rs751994360	p.Arg68Gln	missense variant	-	NC_000001.11:g.18634420G>A	ExAC,TOPMed,gnomAD
rs971887512	p.Val71Ala	missense variant	-	NC_000001.11:g.18634429T>C	TOPMed,gnomAD
rs755501864	p.Arg74Gln	missense variant	-	NC_000001.11:g.18634438G>A	ExAC,gnomAD
rs1176071790	p.Arg74Ter	stop gained	-	NC_000001.11:g.18634437C>T	gnomAD
rs567904259	p.Arg77Cys	missense variant	-	NC_000001.11:g.18634446C>T	1000Genomes,ExAC,gnomAD
rs770407396	p.Arg77His	missense variant	-	NC_000001.11:g.18634447G>A	ExAC,TOPMed,gnomAD
rs1017007269	p.Val83Ile	missense variant	-	NC_000001.11:g.18634464G>A	TOPMed,gnomAD
rs1284965343	p.Ser84Cys	missense variant	-	NC_000001.11:g.18634468C>G	gnomAD
rs1368581025	p.Ile86Thr	missense variant	-	NC_000001.11:g.18634474T>C	TOPMed
rs1312917886	p.Leu87Ile	missense variant	-	NC_000001.11:g.18634476C>A	gnomAD
rs1312917886	p.Leu87Ile	missense variant	-	NC_000001.11:g.18634476C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu87Arg	missense variant	-	NC_000001.11:g.18634477T>G	NCI-TCGA
rs897257600	p.Arg89His	missense variant	-	NC_000001.11:g.18634483G>A	NCI-TCGA
rs897257600	p.Arg89His	missense variant	-	NC_000001.11:g.18634483G>A	TOPMed
rs1252839601	p.Tyr90Cys	missense variant	-	NC_000001.11:g.18634486A>G	gnomAD
rs1469161343	p.Gln91Ter	stop gained	-	NC_000001.11:g.18634488C>T	gnomAD
COSM6060334	p.Gln91Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18634488C>G	NCI-TCGA Cosmic
rs760500153	p.Gln91Leu	missense variant	-	NC_000001.11:g.18634489A>T	ExAC,gnomAD
rs768612253	p.Glu92Lys	missense variant	-	NC_000001.11:g.18634491G>A	ExAC,TOPMed,gnomAD
rs765162614	p.Gly94Ala	missense variant	-	NC_000001.11:g.18634498G>C	ExAC,gnomAD
rs1407999154	p.Gly94Arg	missense variant	-	NC_000001.11:g.18634497G>A	gnomAD
rs1398357710	p.Ser95Cys	missense variant	-	NC_000001.11:g.18634501C>G	TOPMed
rs1393523766	p.Ile96Thr	missense variant	-	NC_000001.11:g.18634504T>C	TOPMed,gnomAD
rs751942968	p.Arg97Gln	missense variant	-	NC_000001.11:g.18634507G>A	ExAC,TOPMed,gnomAD
rs148832029	p.Arg97Gly	missense variant	-	NC_000001.11:g.18634506C>G	ESP,ExAC,TOPMed,gnomAD
rs148832029	p.Arg97Trp	missense variant	-	NC_000001.11:g.18634506C>T	ESP,ExAC,TOPMed,gnomAD
rs1238170263	p.Ala100Thr	missense variant	-	NC_000001.11:g.18634515G>A	gnomAD
rs369607271	p.Gly102Ser	missense variant	-	NC_000001.11:g.18634521G>A	ESP,ExAC,TOPMed,gnomAD
rs745409821	p.Gly103Ser	missense variant	-	NC_000001.11:g.18634524G>A	ExAC,gnomAD
rs745409821	p.Gly103Ser	missense variant	-	NC_000001.11:g.18634524G>A	NCI-TCGA
rs1259828343	p.Lys105Asn	missense variant	-	NC_000001.11:g.18634532G>T	TOPMed
NCI-TCGA novel	p.Pro106Leu	missense variant	-	NC_000001.11:g.18634534C>T	NCI-TCGA
rs1215976861	p.Arg107Ser	missense variant	-	NC_000001.11:g.18634538A>C	gnomAD
rs1301311331	p.Ala110Thr	missense variant	-	NC_000001.11:g.18635117G>A	TOPMed
rs774565338	p.Ala110Val	missense variant	-	NC_000001.11:g.18635118C>T	ExAC,TOPMed,gnomAD
rs376411971	p.Thr111Ile	missense variant	-	NC_000001.11:g.18635121C>T	ESP,ExAC,TOPMed,gnomAD
rs142754204	p.Pro112Leu	missense variant	-	NC_000001.11:g.18635124C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1416924724	p.Pro112Ser	missense variant	-	NC_000001.11:g.18635123C>T	gnomAD
rs764601304	p.Asp113Asn	missense variant	-	NC_000001.11:g.18635126G>A	ExAC,gnomAD
rs762305801	p.Val114Ile	missense variant	-	NC_000001.11:g.18635129G>A	ExAC,TOPMed,gnomAD
rs751059274	p.Lys116Arg	missense variant	-	NC_000001.11:g.18635136A>G	ExAC,TOPMed
rs577857072	p.Lys117Asn	missense variant	-	NC_000001.11:g.18635140G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys117Asn	missense variant	-	NC_000001.11:g.18635140G>T	NCI-TCGA
rs780858389	p.Ile118Val	missense variant	-	NC_000001.11:g.18635141A>G	ExAC,gnomAD
rs1212641020	p.Ile118Thr	missense variant	-	NC_000001.11:g.18635142T>C	gnomAD
NCI-TCGA novel	p.Ile118AspPheSerTerUnk	frameshift	-	NC_000001.11:g.18635134_18635135insA	NCI-TCGA
rs1427513742	p.Glu119Asp	missense variant	-	NC_000001.11:g.18635146G>C	gnomAD
rs1050957153	p.Glu120Gly	missense variant	-	NC_000001.11:g.18635148A>G	TOPMed
rs1399534973	p.TyrLysArgGlu121Ter	stop gained	-	NC_000001.11:g.18635152_18635160del	TOPMed
rs371257583	p.Tyr121Cys	missense variant	-	NC_000001.11:g.18635151A>G	ESP,ExAC,gnomAD
rs139680453	p.Lys122Arg	missense variant	-	NC_000001.11:g.18635154A>G	ESP,ExAC,TOPMed,gnomAD
rs777856039	p.Arg123Ser	missense variant	-	NC_000001.11:g.18635158G>C	ExAC,gnomAD
rs1376183368	p.Glu124Gly	missense variant	-	NC_000001.11:g.18635160A>G	gnomAD
rs1376183368	p.Glu124Gly	missense variant	-	NC_000001.11:g.18635160A>G	NCI-TCGA
rs1436634824	p.Asn125Ser	missense variant	-	NC_000001.11:g.18635163A>G	gnomAD
rs770976315	p.Pro126Ala	missense variant	-	NC_000001.11:g.18635165C>G	ExAC,gnomAD
rs778904746	p.Met128Leu	missense variant	-	NC_000001.11:g.18635171A>C	ExAC,TOPMed,gnomAD
rs778904746	p.Met128Val	missense variant	-	NC_000001.11:g.18635171A>G	ExAC,TOPMed,gnomAD
rs745925674	p.Met128Ile	missense variant	-	NC_000001.11:g.18635173G>A	ExAC,gnomAD
rs368102853	p.Phe129Tyr	missense variant	-	NC_000001.11:g.18635175T>A	ESP,ExAC,gnomAD
COSM3480432	p.Glu132Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18635183G>A	NCI-TCGA Cosmic
rs1427053032	p.Ile133Asn	missense variant	-	NC_000001.11:g.18635187T>A	TOPMed,gnomAD
rs1427053032	p.Ile133Thr	missense variant	-	NC_000001.11:g.18635187T>C	TOPMed,gnomAD
rs760954795	p.Arg134Gln	missense variant	-	NC_000001.11:g.18635190G>A	ExAC,gnomAD
rs775727650	p.Arg134Trp	missense variant	-	NC_000001.11:g.18635189C>T	ExAC,TOPMed,gnomAD
COSM4026214	p.Arg134Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18635190G>T	NCI-TCGA Cosmic
rs760954795	p.Arg134Gln	missense variant	-	NC_000001.11:g.18635190G>A	NCI-TCGA
rs72937282	p.Arg136Ser	missense variant	-	NC_000001.11:g.18635197G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1240946523	p.Arg136Gly	missense variant	-	NC_000001.11:g.18635195A>G	TOPMed
rs776969728	p.Leu138Pro	missense variant	-	NC_000001.11:g.18635202T>C	ExAC,gnomAD
rs1205340753	p.Lys139Glu	missense variant	-	NC_000001.11:g.18635204A>G	gnomAD
rs1263667193	p.Asp140Glu	missense variant	-	NC_000001.11:g.18635209T>A	gnomAD
rs762358727	p.Gly141Glu	missense variant	-	NC_000001.11:g.18635211G>A	ExAC,gnomAD
rs1222049098	p.His142Arg	missense variant	-	NC_000001.11:g.18635214A>G	TOPMed
rs751061934	p.His142Tyr	missense variant	-	NC_000001.11:g.18635213C>T	ExAC,TOPMed,gnomAD
rs758413235	p.Asp144Glu	missense variant	-	NC_000001.11:g.18635221C>A	gnomAD
rs767089117	p.Asp144Gly	missense variant	-	NC_000001.11:g.18635220A>G	ExAC,gnomAD
rs755821765	p.Arg145Gln	missense variant	-	NC_000001.11:g.18635223G>A	ExAC,TOPMed,gnomAD
rs1360451940	p.Ser146Arg	missense variant	-	NC_000001.11:g.18635225A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro149Thr	missense variant	-	NC_000001.11:g.18635234C>A	NCI-TCGA
rs780231726	p.Gly151Asp	missense variant	-	NC_000001.11:g.18636237G>A	ExAC,TOPMed,gnomAD
COSM1219383	p.Ser155Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18636249C>T	NCI-TCGA Cosmic
rs755225721	p.Val159Ala	missense variant	-	NC_000001.11:g.18636261T>C	ExAC,TOPMed
NCI-TCGA novel	p.Leu160Phe	missense variant	-	NC_000001.11:g.18636263C>T	NCI-TCGA
rs1408550482	p.Arg161Ile	missense variant	-	NC_000001.11:g.18636267G>T	gnomAD
rs748525982	p.Phe164Leu	missense variant	-	NC_000001.11:g.18636277C>A	ExAC,gnomAD
rs1170127932	p.Phe164Val	missense variant	-	NC_000001.11:g.18636275T>G	gnomAD
rs748525982	p.Phe164Leu	missense variant	-	NC_000001.11:g.18636277C>G	ExAC,gnomAD
rs959601623	p.Lys167Glu	missense variant	-	NC_000001.11:g.18636284A>G	TOPMed
rs770129430	p.Lys167Thr	missense variant	-	NC_000001.11:g.18636285A>C	ExAC,gnomAD
rs1373090969	p.Glu168Val	missense variant	-	NC_000001.11:g.18636288A>T	gnomAD
rs771316977	p.Glu170Gly	missense variant	-	NC_000001.11:g.18636294A>G	ExAC,gnomAD
rs771316977	p.Glu170Ala	missense variant	-	NC_000001.11:g.18636294A>C	ExAC,gnomAD
rs760219379	p.Asp171Glu	missense variant	-	NC_000001.11:g.18636298T>G	ExAC,gnomAD
rs776359965	p.Ala173Val	missense variant	-	NC_000001.11:g.18636303C>T	ExAC,TOPMed,gnomAD
rs776359965	p.Ala173Glu	missense variant	-	NC_000001.11:g.18636303C>A	ExAC,TOPMed,gnomAD
rs1328727883	p.Ala173Thr	missense variant	-	NC_000001.11:g.18636302G>A	TOPMed
rs776359965	p.Ala173Glu	missense variant	-	NC_000001.11:g.18636303C>A	NCI-TCGA Cosmic
rs776359965	p.Ala173Val	missense variant	-	NC_000001.11:g.18636303C>T	NCI-TCGA,NCI-TCGA Cosmic
rs765140824	p.Lys175Gln	missense variant	-	NC_000001.11:g.18636308A>C	ExAC,gnomAD
rs1485365737	p.Glu177Asp	missense variant	-	NC_000001.11:g.18636316G>C	gnomAD
rs1209376438	p.Glu177Lys	missense variant	-	NC_000001.11:g.18636314G>A	TOPMed
rs750165429	p.Asp178Glu	missense variant	-	NC_000001.11:g.18636319C>A	ExAC,gnomAD
rs372598486	p.Asp179Glu	missense variant	-	NC_000001.11:g.18636322C>A	ESP,ExAC,TOPMed,gnomAD
rs202222781	p.Asp179Asn	missense variant	-	NC_000001.11:g.18636320G>A	ExAC,gnomAD
rs751661905	p.Gly180Ser	missense variant	-	NC_000001.11:g.18636323G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser187Asn	missense variant	-	NC_000001.11:g.18636345G>A	NCI-TCGA
rs1172280724	p.Ile188Ser	missense variant	-	NC_000001.11:g.18636348T>G	gnomAD
rs1373148008	p.Leu192Val	missense variant	-	NC_000001.11:g.18636359C>G	gnomAD
COSM1337277	p.Asp194Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18636365G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp194Asn	missense variant	-	NC_000001.11:g.18636365G>A	NCI-TCGA
rs375284574	p.Arg198Trp	missense variant	-	NC_000001.11:g.18691759C>T	NCI-TCGA
rs759283359	p.Arg198Leu	missense variant	-	NC_000001.11:g.18691760G>T	ExAC,TOPMed,gnomAD
rs759283359	p.Arg198Gln	missense variant	-	NC_000001.11:g.18691760G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg198Pro	missense variant	-	NC_000001.11:g.18691760G>C	NCI-TCGA
rs375284574	p.Arg198Trp	missense variant	-	NC_000001.11:g.18691759C>T	ESP,ExAC,TOPMed,gnomAD
rs1161403871	p.Leu199Gln	missense variant	-	NC_000001.11:g.18691763T>A	TOPMed
rs201602654	p.Glu201Gly	missense variant	-	NC_000001.11:g.18691769A>G	ExAC,TOPMed,gnomAD
rs1170293876	p.Glu201Lys	missense variant	-	NC_000001.11:g.18691768G>A	TOPMed
rs1170293876	p.Glu201Lys	missense variant	-	NC_000001.11:g.18691768G>A	NCI-TCGA
rs1408305648	p.Gly202Asp	missense variant	-	NC_000001.11:g.18691772G>A	gnomAD
rs757502773	p.Ser203Leu	missense variant	-	NC_000001.11:g.18691775C>T	ExAC,TOPMed,gnomAD
rs757502773	p.Ser203Trp	missense variant	-	NC_000001.11:g.18691775C>G	ExAC,TOPMed,gnomAD
rs1393453644	p.Asp204Ala	missense variant	-	NC_000001.11:g.18691778A>C	gnomAD
rs746440011	p.Val205Ala	missense variant	-	NC_000001.11:g.18691781T>C	ExAC,gnomAD
rs772687531	p.Glu206Asp	missense variant	-	NC_000001.11:g.18691785G>T	ExAC,gnomAD
rs752360223	p.Ser207Leu	missense variant	-	NC_000001.11:g.18691787C>T	ExAC,TOPMed,gnomAD
rs752360223	p.Ser207Trp	missense variant	-	NC_000001.11:g.18691787C>G	ExAC,TOPMed,gnomAD
COSM5536507	p.Glu208Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691789G>A	NCI-TCGA Cosmic
rs1280147513	p.Pro209His	missense variant	-	NC_000001.11:g.18691793C>A	gnomAD
rs1371828008	p.Pro209Thr	missense variant	-	NC_000001.11:g.18691792C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu211Pro	missense variant	-	NC_000001.11:g.18691799T>C	NCI-TCGA
rs1231675295	p.Lys214Asn	missense variant	-	NC_000001.11:g.18691809G>T	gnomAD
rs200575057	p.Arg215His	missense variant	-	NC_000001.11:g.18691811G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762812558	p.Arg215Cys	missense variant	-	NC_000001.11:g.18691810C>T	ExAC,TOPMed,gnomAD
rs774118694	p.Lys216Glu	missense variant	-	NC_000001.11:g.18691813A>G	ExAC,gnomAD
COSM1337286	p.Arg218Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.18691819C>T	NCI-TCGA Cosmic
rs759517187	p.Arg218Gln	missense variant	-	NC_000001.11:g.18691820G>A	ExAC,gnomAD
rs752849870	p.Arg219His	missense variant	-	NC_000001.11:g.18691823G>A	ExAC,TOPMed,gnomAD
rs760620403	p.Ser220Asn	missense variant	-	NC_000001.11:g.18691826G>A	ExAC,gnomAD
rs1473016979	p.Arg221Trp	missense variant	-	NC_000001.11:g.18691828C>T	gnomAD
rs1022812740	p.Arg221Gln	missense variant	-	NC_000001.11:g.18691829G>A	gnomAD
rs1473016979	p.Arg221Trp	missense variant	-	NC_000001.11:g.18691828C>T	NCI-TCGA Cosmic
rs1022812740	p.Arg221Leu	missense variant	-	NC_000001.11:g.18691829G>T	gnomAD
rs1372477155	p.Thr225Ser	missense variant	-	NC_000001.11:g.18691840A>T	gnomAD
rs757493004	p.Thr225Met	missense variant	-	NC_000001.11:g.18691841C>T	ExAC,TOPMed,gnomAD
rs1372477155	p.Thr225Ser	missense variant	-	NC_000001.11:g.18691840A>T	NCI-TCGA
rs1287469522	p.Ala226Val	missense variant	-	NC_000001.11:g.18691844C>T	NCI-TCGA
rs759005968	p.Ala226Ser	missense variant	-	NC_000001.11:g.18691843G>T	ExAC,gnomAD
rs1287469522	p.Ala226Val	missense variant	-	NC_000001.11:g.18691844C>T	gnomAD
rs144928234	p.Glu227Lys	missense variant	-	NC_000001.11:g.18691846G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM1473183	p.Leu229Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691852C>A	NCI-TCGA Cosmic
rs1196872406	p.Glu230Asp	missense variant	-	NC_000001.11:g.18691857G>C	gnomAD
NCI-TCGA novel	p.Glu233Gln	missense variant	-	NC_000001.11:g.18691864G>C	NCI-TCGA
rs1483738753	p.Lys234Arg	missense variant	-	NC_000001.11:g.18691868A>G	gnomAD
rs147079707	p.Ala235Thr	missense variant	-	NC_000001.11:g.18691870G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3863900	p.Arg238Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691880G>A	NCI-TCGA Cosmic
rs770545876	p.Thr239Ala	missense variant	-	NC_000001.11:g.18691882A>G	ExAC,gnomAD
rs1189384539	p.Tyr241Ser	missense variant	-	NC_000001.11:g.18691889A>C	gnomAD
NCI-TCGA novel	p.Asp243Glu	missense variant	-	NC_000001.11:g.18691896C>A	NCI-TCGA
COSM4026241	p.Tyr245Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691901A>G	NCI-TCGA Cosmic
rs745619831	p.Thr246Ile	missense variant	-	NC_000001.11:g.18691904C>T	ExAC,TOPMed,gnomAD
rs745619831	p.Thr246Ser	missense variant	-	NC_000001.11:g.18691904C>G	ExAC,TOPMed,gnomAD
rs373331822	p.Arg247His	missense variant	-	NC_000001.11:g.18691907G>A	ESP,ExAC,gnomAD
rs772017159	p.Arg247Cys	missense variant	-	NC_000001.11:g.18691906C>T	ExAC,TOPMed,gnomAD
COSM1146102	p.Arg247Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691907G>T	NCI-TCGA Cosmic
rs373331822	p.Arg247His	missense variant	-	NC_000001.11:g.18691907G>A	NCI-TCGA
rs776754356	p.Glu248Lys	missense variant	-	NC_000001.11:g.18691909G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu249Ter	stop gained	-	NC_000001.11:g.18691912G>T	NCI-TCGA
rs1316753243	p.Ala251Val	missense variant	-	NC_000001.11:g.18691919C>T	gnomAD
rs1397947057	p.Ala251Thr	missense variant	-	NC_000001.11:g.18691918G>A	gnomAD
rs758779913	p.Arg253Lys	missense variant	-	NC_000001.11:g.18691925G>A	ExAC,gnomAD
rs1278923306	p.Glu258Lys	missense variant	-	NC_000001.11:g.18691939G>A	gnomAD
COSM1583908	p.Ala259Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691943C>T	NCI-TCGA Cosmic
rs777197278	p.Ala259Ser	missense variant	-	NC_000001.11:g.18691942G>T	ExAC,gnomAD
rs1446186865	p.Arg260Cys	missense variant	-	NC_000001.11:g.18691945C>T	gnomAD
rs778485142	p.Arg260His	missense variant	-	NC_000001.11:g.18691946G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln262MetIleLysAlaPheGlnGluAsn	insertion	-	NC_000001.11:g.18700652_18700653insATGATTAAAGCCTTTCAGGAAAAT	NCI-TCGA
rs753365796	p.Val263Phe	missense variant	-	NC_000001.11:g.18700653G>T	ExAC,gnomAD
rs753365796	p.Val263Ile	missense variant	-	NC_000001.11:g.18700653G>A	ExAC,gnomAD
rs1461418218	p.Phe265Leu	missense variant	-	NC_000001.11:g.18700661C>G	gnomAD
rs1294606018	p.Asn267Lys	missense variant	-	NC_000001.11:g.18700667C>A	gnomAD
rs756695695	p.Arg268His	missense variant	-	NC_000001.11:g.18700669G>A	ExAC,TOPMed,gnomAD
rs1357351947	p.Arg268Cys	missense variant	-	NC_000001.11:g.18700668C>T	gnomAD
rs371475871	p.Arg269Pro	missense variant	-	NC_000001.11:g.18700672G>C	ESP,TOPMed,gnomAD
rs1388040564	p.Arg269Cys	missense variant	-	NC_000001.11:g.18700671C>T	gnomAD
COSM6123341	p.Arg269Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18700671C>A	NCI-TCGA Cosmic
rs371475871	p.Arg269His	missense variant	-	NC_000001.11:g.18700672G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1388040564	p.Arg269Cys	missense variant	-	NC_000001.11:g.18700671C>T	NCI-TCGA
rs371475871	p.Arg269His	missense variant	-	NC_000001.11:g.18700672G>A	ESP,TOPMed,gnomAD
rs745583358	p.Ala270Thr	missense variant	-	NC_000001.11:g.18700674G>A	ExAC,gnomAD
rs745583358	p.Ala270Thr	missense variant	-	NC_000001.11:g.18700674G>A	NCI-TCGA
rs746781983	p.Arg271His	missense variant	-	NC_000001.11:g.18700678G>A	ExAC,TOPMed,gnomAD
rs200642644	p.Arg271Cys	missense variant	-	NC_000001.11:g.18700677C>T	1000Genomes,ExAC,gnomAD
rs1265994219	p.Trp272Ser	missense variant	-	NC_000001.11:g.18700681G>C	gnomAD
rs915768373	p.Arg273His	missense variant	-	NC_000001.11:g.18700684G>A	TOPMed,gnomAD
rs768503948	p.Arg273Cys	missense variant	-	NC_000001.11:g.18700683C>T	ExAC,TOPMed,gnomAD
rs768503948	p.Arg273Cys	missense variant	-	NC_000001.11:g.18700683C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1458664904	p.Lys274Gln	missense variant	-	NC_000001.11:g.18700686A>C	gnomAD
rs948768845	p.Gln275Pro	missense variant	-	NC_000001.11:g.18700690A>C	TOPMed,gnomAD
rs748243081	p.Gly277Arg	missense variant	-	NC_000001.11:g.18700695G>A	ExAC,gnomAD
rs1469378424	p.Ala278Gly	missense variant	-	NC_000001.11:g.18700699C>G	TOPMed
rs773414245	p.Gln280His	missense variant	-	NC_000001.11:g.18700706G>C	ExAC,TOPMed,gnomAD
rs763313664	p.Ala282Val	missense variant	-	NC_000001.11:g.18700711C>T	ExAC,TOPMed,gnomAD
rs774609612	p.Ala283Glu	missense variant	-	NC_000001.11:g.18700714C>A	ExAC,TOPMed,gnomAD
rs774609612	p.Ala283Val	missense variant	-	NC_000001.11:g.18700714C>T	NCI-TCGA,NCI-TCGA Cosmic
rs774609612	p.Ala283Val	missense variant	-	NC_000001.11:g.18700714C>T	ExAC,TOPMed,gnomAD
rs1227538555	p.Leu287Phe	missense variant	-	NC_000001.11:g.18700725C>T	gnomAD
rs143423261	p.Leu287Pro	missense variant	-	NC_000001.11:g.18700726T>C	ESP,ExAC,TOPMed,gnomAD
COSM1583906	p.Leu288Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18700728C>A	NCI-TCGA Cosmic
rs761162863	p.Leu288Pro	missense variant	-	NC_000001.11:g.18700729T>C	ExAC,gnomAD
rs558714916	p.Gly290Glu	missense variant	-	NC_000001.11:g.18700735G>A	ExAC,TOPMed,gnomAD
rs1207317607	p.Pro293Leu	missense variant	-	NC_000001.11:g.18700744C>T	gnomAD
rs370742910	p.Gly296Ser	missense variant	-	NC_000001.11:g.18700752G>A	ESP,ExAC,TOPMed,gnomAD
rs370742910	p.Gly296Ser	missense variant	-	NC_000001.11:g.18700752G>A	NCI-TCGA
rs1416391852	p.Met297Ile	missense variant	-	NC_000001.11:g.18700757G>A	gnomAD
NCI-TCGA novel	p.Thr299Met	missense variant	-	NC_000001.11:g.18700762C>T	NCI-TCGA
rs754735874	p.Pro301Ser	missense variant	-	NC_000001.11:g.18700767C>T	ExAC,gnomAD
rs1028436131	p.Pro302Ser	missense variant	-	NC_000001.11:g.18700770C>T	TOPMed,gnomAD
COSM1337288	p.Tyr303ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.18700767C>-	NCI-TCGA Cosmic
rs754858754	p.Tyr303LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.18700766_18700767insC	NCI-TCGA
rs781131736	p.Gln304Leu	missense variant	-	NC_000001.11:g.18700777A>T	ExAC,gnomAD
rs748155378	p.Pro306Leu	missense variant	-	NC_000001.11:g.18700783C>T	ExAC,gnomAD
rs748155378	p.Pro306Gln	missense variant	-	NC_000001.11:g.18700783C>A	ExAC,gnomAD
rs544225459	p.Asp307Gly	missense variant	-	NC_000001.11:g.18700786A>G	gnomAD
rs1303285145	p.Ser308Pro	missense variant	-	NC_000001.11:g.18700788T>C	gnomAD
rs778037085	p.Thr309Asn	missense variant	-	NC_000001.11:g.18700792C>A	ExAC,gnomAD
rs778037085	p.Thr309Ser	missense variant	-	NC_000001.11:g.18700792C>G	ExAC,gnomAD
rs889987252	p.Pro311Ser	missense variant	-	NC_000001.11:g.18700797C>T	TOPMed
rs549133578	p.Thr312Ser	missense variant	-	NC_000001.11:g.18700801C>G	1000Genomes
rs771079752	p.Thr312Ala	missense variant	-	NC_000001.11:g.18700800A>G	ExAC
rs1342731808	p.Ile315Val	missense variant	-	NC_000001.11:g.18700809A>G	TOPMed,gnomAD
rs754575370	p.Asp318Gly	missense variant	-	NC_000001.11:g.18703094A>G	ExAC,gnomAD
rs781183179	p.Asp318Glu	missense variant	-	NC_000001.11:g.18703095T>G	ExAC,gnomAD
COSM3480481	p.Gly319Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18703096G>A	NCI-TCGA Cosmic
rs752507470	p.Thr322Ser	missense variant	-	NC_000001.11:g.18703105A>T	ExAC,gnomAD
rs373451557	p.Val323Leu	missense variant	-	NC_000001.11:g.18703108G>C	ESP,TOPMed,gnomAD
rs756150156	p.Arg325Trp	missense variant	-	NC_000001.11:g.18703114C>T	ExAC,gnomAD
COSM6123339	p.Pro326Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18703118C>G	NCI-TCGA Cosmic
rs145847662	p.Pro328Leu	missense variant	-	NC_000001.11:g.18703124C>T	ESP,ExAC,TOPMed,gnomAD
rs377610214	p.Pro331Leu	missense variant	-	NC_000001.11:g.18703133C>T	ESP,ExAC,TOPMed,gnomAD
rs1458789113	p.Thr333Pro	missense variant	-	NC_000001.11:g.18703138A>C	gnomAD
NCI-TCGA novel	p.Thr333Ile	missense variant	-	NC_000001.11:g.18703139C>T	NCI-TCGA
rs1038119035	p.His335Gln	missense variant	-	NC_000001.11:g.18703146C>G	TOPMed
rs757290925	p.His335Arg	missense variant	-	NC_000001.11:g.18703145A>G	ExAC
rs778849585	p.Gln336Pro	missense variant	-	NC_000001.11:g.18703148A>C	ExAC,gnomAD
rs746156743	p.Gly337Ser	missense variant	-	NC_000001.11:g.18703150G>A	ExAC,TOPMed,gnomAD
rs1371525143	p.Gly338Val	missense variant	-	NC_000001.11:g.18703154G>T	gnomAD
rs772256591	p.Gly338Arg	missense variant	-	NC_000001.11:g.18703153G>A	ExAC,gnomAD
rs1441152710	p.Ala340Val	missense variant	-	NC_000001.11:g.18703160C>T	TOPMed
rs371037800	p.Ala341Thr	missense variant	-	NC_000001.11:g.18703162G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala342Val	missense variant	-	NC_000001.11:g.18703166C>T	NCI-TCGA
rs1380969943	p.Ala343Thr	missense variant	-	NC_000001.11:g.18703168G>A	TOPMed
rs1289835872	p.Ala345Val	missense variant	-	NC_000001.11:g.18703175C>T	gnomAD
rs769169265	p.Asp347Asn	missense variant	-	NC_000001.11:g.18703180G>A	ExAC,gnomAD
rs1247930967	p.Asp347Ala	missense variant	-	NC_000001.11:g.18703181A>C	gnomAD
rs769169265	p.Asp347His	missense variant	-	NC_000001.11:g.18703180G>C	ExAC,gnomAD
rs1412500269	p.Tyr352Cys	missense variant	-	NC_000001.11:g.18703196A>G	gnomAD
rs201998357	p.Tyr352Asn	missense variant	-	NC_000001.11:g.18703195T>A	1000Genomes
rs1288538567	p.Gly353Arg	missense variant	-	NC_000001.11:g.18703198G>A	TOPMed
rs1473463055	p.Ala354Asp	missense variant	-	NC_000001.11:g.18703202C>A	gnomAD
rs765973742	p.Arg355Ser	missense variant	-	NC_000001.11:g.18703204C>A	ExAC,gnomAD
rs866230294	p.Arg355His	missense variant	-	NC_000001.11:g.18703205G>A	TOPMed,gnomAD
rs765973742	p.Arg355Cys	missense variant	-	NC_000001.11:g.18703204C>T	ExAC,gnomAD
rs866230294	p.Arg355His	missense variant	-	NC_000001.11:g.18703205G>A	NCI-TCGA Cosmic
rs1325690512	p.Ser359Phe	missense variant	-	NC_000001.11:g.18703217C>T	gnomAD
rs759271136	p.Ser362Phe	missense variant	-	NC_000001.11:g.18703226C>T	ExAC
rs1231856165	p.Met366Leu	missense variant	-	NC_000001.11:g.18703237A>C	gnomAD
rs1283907977	p.Pro368Ala	missense variant	-	NC_000001.11:g.18703243C>G	gnomAD
rs1013770872	p.Ala369Val	missense variant	-	NC_000001.11:g.18703247C>T	NCI-TCGA
rs1013770872	p.Ala369Val	missense variant	-	NC_000001.11:g.18703247C>T	gnomAD
NCI-TCGA novel	p.Ala369Glu	missense variant	-	NC_000001.11:g.18703247C>A	NCI-TCGA
rs199662942	p.Ala370Glu	missense variant	-	NC_000001.11:g.18703250C>A	ExAC,TOPMed,gnomAD
rs199662942	p.Ala370Val	missense variant	-	NC_000001.11:g.18703250C>T	ExAC,TOPMed,gnomAD
rs1203749207	p.Pro371Leu	missense variant	-	NC_000001.11:g.18703253C>T	gnomAD
rs1483793749	p.Ser372Ala	missense variant	-	NC_000001.11:g.18703255T>G	TOPMed,gnomAD
rs370927263	p.His374Arg	missense variant	-	NC_000001.11:g.18703262A>G	ESP,ExAC,gnomAD
rs370927263	p.His374Pro	missense variant	-	NC_000001.11:g.18703262A>C	ESP,ExAC,gnomAD
rs1026433184	p.Met375Thr	missense variant	-	NC_000001.11:g.18703265T>C	TOPMed
NCI-TCGA novel	p.Met375Leu	missense variant	-	NC_000001.11:g.18703264A>C	NCI-TCGA
rs890664448	p.Asn376Lys	missense variant	-	NC_000001.11:g.18703269C>G	TOPMed,gnomAD
rs754043353	p.Pro377Leu	missense variant	-	NC_000001.11:g.18703271C>T	ExAC,gnomAD
rs1424439940	p.Pro377Ala	missense variant	-	NC_000001.11:g.18703270C>G	TOPMed
rs1388197284	p.Val378Ile	missense variant	-	NC_000001.11:g.18703273G>A	gnomAD
rs1372653687	p.Asn380Ser	missense variant	-	NC_000001.11:g.18703280A>G	gnomAD
rs747382886	p.Asn380Lys	missense variant	-	NC_000001.11:g.18703281C>A	ExAC,gnomAD
COSM4026253	p.Gly381Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18703282G>T	NCI-TCGA Cosmic
COSM3480483	p.Pro384Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18703291C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln385His	missense variant	-	NC_000001.11:g.18703296G>T	NCI-TCGA
NCI-TCGA novel	p.Gln385Lys	missense variant	-	NC_000001.11:g.18703294C>A	NCI-TCGA
rs775122989	p.Val386Leu	missense variant	-	NC_000001.11:g.18735632G>C	ExAC,gnomAD
rs760450345	p.Met387Thr	missense variant	-	NC_000001.11:g.18735636T>C	ExAC
rs147809994	p.Ser388Asn	missense variant	-	NC_000001.11:g.18735639G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Asn392Lys	missense variant	-	NC_000001.11:g.18735652C>A	NCI-TCGA
NCI-TCGA novel	p.Pro393Thr	missense variant	-	NC_000001.11:g.18735653C>A	NCI-TCGA
rs761460050	p.Ala395Val	missense variant	-	NC_000001.11:g.18735660C>T	ExAC,TOPMed,gnomAD
rs761460050	p.Ala395Val	missense variant	-	NC_000001.11:g.18735660C>T	NCI-TCGA,NCI-TCGA Cosmic
rs149436157	p.Pro398Leu	missense variant	-	NC_000001.11:g.18735669C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1345190091	p.Pro398Ser	missense variant	-	NC_000001.11:g.18735668C>T	gnomAD
rs149436157	p.Pro398Leu	missense variant	-	NC_000001.11:g.18735669C>T	NCI-TCGA
rs755225967	p.Gln399Ter	stop gained	-	NC_000001.11:g.18735671C>T	ExAC,gnomAD
rs755225967	p.Gln399Glu	missense variant	-	NC_000001.11:g.18735671C>G	ExAC,gnomAD
rs781220497	p.Pro400Ser	missense variant	-	NC_000001.11:g.18735674C>T	ExAC,gnomAD
rs1331383105	p.Ser405Tyr	missense variant	-	NC_000001.11:g.18735690C>A	TOPMed,gnomAD
rs1331383105	p.Ser405Tyr	missense variant	-	NC_000001.11:g.18735690C>A	NCI-TCGA
rs1331383105	p.Ser405Cys	missense variant	-	NC_000001.11:g.18735690C>G	TOPMed,gnomAD
rs148081584	p.Ile406Val	missense variant	-	NC_000001.11:g.18735692A>G	ESP,ExAC,gnomAD
rs564200011	p.Pro408Leu	missense variant	-	NC_000001.11:g.18735699C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1269976989	p.His410Arg	missense variant	-	NC_000001.11:g.18735705A>G	gnomAD
rs1268130256	p.Gly412Asp	missense variant	-	NC_000001.11:g.18735711G>A	TOPMed,gnomAD
rs144861509	p.Gly412Ser	missense variant	-	NC_000001.11:g.18735710G>A	NCI-TCGA
rs144861509	p.Gly412Ser	missense variant	-	NC_000001.11:g.18735710G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs746475007	p.Leu413Pro	missense variant	-	NC_000001.11:g.18735714T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp414Asn	missense variant	-	NC_000001.11:g.18735716G>A	NCI-TCGA
rs768370753	p.Ser415Leu	missense variant	-	NC_000001.11:g.18735720C>T	ExAC,TOPMed,gnomAD
rs1473139973	p.Ala416Thr	missense variant	-	NC_000001.11:g.18735722G>A	gnomAD
rs1161742615	p.Ala416Asp	missense variant	-	NC_000001.11:g.18735723C>A	gnomAD
rs1415391119	p.Thr417Pro	missense variant	-	NC_000001.11:g.18735725A>C	TOPMed
NCI-TCGA novel	p.Thr417Ala	missense variant	-	NC_000001.11:g.18735725A>G	NCI-TCGA
rs1367246502	p.Ala421Thr	missense variant	-	NC_000001.11:g.18735737G>A	gnomAD
rs761526778	p.Ser422Arg	missense variant	-	NC_000001.11:g.18735740A>C	ExAC,gnomAD
rs769536224	p.Arg426Trp	missense variant	-	NC_000001.11:g.18735752C>T	ExAC,TOPMed,gnomAD
rs371958619	p.Arg426Gln	missense variant	-	NC_000001.11:g.18735753G>A	ESP,ExAC,TOPMed,gnomAD
rs371958619	p.Arg426Gln	missense variant	-	NC_000001.11:g.18735753G>A	NCI-TCGA,NCI-TCGA Cosmic
rs769536224	p.Arg426Gly	missense variant	-	NC_000001.11:g.18735752C>G	ExAC,TOPMed,gnomAD
rs769536224	p.Arg426Trp	missense variant	-	NC_000001.11:g.18735752C>T	NCI-TCGA
rs371958619	p.Arg426Pro	missense variant	-	NC_000001.11:g.18735753G>C	ESP,ExAC,TOPMed,gnomAD
rs1406446474	p.Ala427Val	missense variant	-	NC_000001.11:g.18735756C>T	gnomAD
rs759475682	p.Asp428Gly	missense variant	-	NC_000001.11:g.18735759A>G	ExAC,TOPMed,gnomAD
rs568673882	p.Asp428Asn	missense variant	-	NC_000001.11:g.18735758G>A	NCI-TCGA
rs568673882	p.Asp428Asn	missense variant	-	NC_000001.11:g.18735758G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3480493	p.Ser429Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18735762C>T	NCI-TCGA Cosmic
rs1319916446	p.Ile430Phe	missense variant	-	NC_000001.11:g.18735764A>T	TOPMed,gnomAD
rs1319916446	p.Ile430Val	missense variant	-	NC_000001.11:g.18735764A>G	TOPMed,gnomAD
rs1243937076	p.Pro432Ser	missense variant	-	NC_000001.11:g.18735770C>T	gnomAD
rs752928933	p.Gly433Ala	missense variant	-	NC_000001.11:g.18735774G>C	ExAC,gnomAD
rs1489518352	p.Asp434Asn	missense variant	-	NC_000001.11:g.18735776G>A	gnomAD
rs146763357	p.Asp434Glu	missense variant	-	NC_000001.11:g.18735778C>G	1000Genomes,ExAC,gnomAD
rs1489518352	p.Asp434Asn	missense variant	-	NC_000001.11:g.18735776G>A	NCI-TCGA
rs1420584772	p.Ser435Asn	missense variant	-	NC_000001.11:g.18735780G>A	gnomAD
rs754222020	p.Gln440Pro	missense variant	-	NC_000001.11:g.18735795A>C	ExAC,gnomAD
rs757868576	p.Cys443Ser	missense variant	-	NC_000001.11:g.18735803T>A	ExAC,TOPMed,gnomAD
rs779507536	p.Pro444Ser	missense variant	-	NC_000001.11:g.18735806C>T	ExAC,TOPMed,gnomAD
rs746525941	p.Pro444Leu	missense variant	-	NC_000001.11:g.18735807C>T	ExAC,TOPMed,gnomAD
rs1166083600	p.Pro445Thr	missense variant	-	NC_000001.11:g.18735809C>A	gnomAD
rs1043918235	p.Tyr447Cys	missense variant	-	NC_000001.11:g.18735816A>G	TOPMed
rs1370657900	p.Tyr447Ter	stop gained	-	NC_000001.11:g.18735817C>G	gnomAD
rs780744300	p.Ser448Arg	missense variant	-	NC_000001.11:g.18735820C>A	ExAC,TOPMed,gnomAD
rs1200408774	p.Thr449Ser	missense variant	-	NC_000001.11:g.18735821A>T	TOPMed
rs548041494	p.Gly451Cys	missense variant	-	NC_000001.11:g.18735827G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs548041494	p.Gly451Arg	missense variant	-	NC_000001.11:g.18735827G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs548041494	p.Gly451Ser	missense variant	-	NC_000001.11:g.18735827G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1299738302	p.Tyr452Cys	missense variant	-	NC_000001.11:g.18735831A>G	gnomAD
rs201893551	p.Val454Met	missense variant	-	NC_000001.11:g.18735836G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775613248	p.Val457Met	missense variant	-	NC_000001.11:g.18735845G>A	ExAC,gnomAD
rs1273989275	p.Ala458Val	missense variant	-	NC_000001.11:g.18735849C>T	TOPMed,gnomAD
rs145120435	p.Gly459Ser	missense variant	-	NC_000001.11:g.18735851G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5844857	p.Gly459Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18735852G>A	NCI-TCGA Cosmic
COSM1146105	p.Gly459Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18735852G>C	NCI-TCGA Cosmic
COSM1146103	p.Gly459Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18735851G>T	NCI-TCGA Cosmic
rs201148507	p.Tyr460Cys	missense variant	-	NC_000001.11:g.18735855A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140323790	p.Gly463Ser	missense variant	-	NC_000001.11:g.18735863G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs140323790	p.Gly463Cys	missense variant	-	NC_000001.11:g.18735863G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758921663	p.Gly463Asp	missense variant	-	NC_000001.11:g.18735864G>A	ExAC,TOPMed,gnomAD
rs758921663	p.Gly463Val	missense variant	-	NC_000001.11:g.18735864G>T	NCI-TCGA
rs140323790	p.Gly463Ser	missense variant	-	NC_000001.11:g.18735863G>A	NCI-TCGA,NCI-TCGA Cosmic
rs140323790	p.Gly463Cys	missense variant	-	NC_000001.11:g.18735863G>T	NCI-TCGA Cosmic
rs758921663	p.Gly463Val	missense variant	-	NC_000001.11:g.18735864G>T	ExAC,TOPMed,gnomAD
rs144242911	p.Gln464His	missense variant	-	NC_000001.11:g.18735868G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln464His	missense variant	-	NC_000001.11:g.18735868G>T	NCI-TCGA
rs143552197	p.Tyr465Ter	stop gained	-	NC_000001.11:g.18735871C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs574538588	p.Gly466Ser	missense variant	-	NC_000001.11:g.18735872G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs574538588	p.Gly466Arg	missense variant	-	NC_000001.11:g.18735872G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs774118673	p.Gln467His	missense variant	-	NC_000001.11:g.18735877G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala469Val	missense variant	-	NC_000001.11:g.18744817C>T	NCI-TCGA
rs750196151	p.Val470Ile	missense variant	-	NC_000001.11:g.18744819G>A	ExAC,gnomAD
rs1337877648	p.Asp471Asn	missense variant	-	NC_000001.11:g.18744822G>A	gnomAD
rs1257497335	p.Tyr472His	missense variant	-	NC_000001.11:g.18744825T>C	TOPMed,gnomAD
rs1257497335	p.Tyr472Asn	missense variant	-	NC_000001.11:g.18744825T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn476His	missense variant	-	NC_000001.11:g.18744837A>C	NCI-TCGA
rs1357593865	p.Ser478Arg	missense variant	-	NC_000001.11:g.18744845C>A	TOPMed,gnomAD
rs1339718930	p.Gln482Ter	stop gained	-	NC_000001.11:g.18744855C>T	gnomAD
rs746992366	p.Arg483Cys	missense variant	-	NC_000001.11:g.18744858C>T	ExAC,TOPMed,gnomAD
rs189558094	p.Arg483His	missense variant	-	NC_000001.11:g.18744859G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs57227966	p.Arg484Pro	missense variant	-	NC_000001.11:g.18744862G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1185057613	p.Arg484Cys	missense variant	-	NC_000001.11:g.18744861C>T	gnomAD
rs57227966	p.Arg484His	missense variant	-	NC_000001.11:g.18744862G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1185057613	p.Arg484Cys	missense variant	-	NC_000001.11:g.18744861C>T	NCI-TCGA Cosmic
rs57227966	p.Arg484His	missense variant	-	NC_000001.11:g.18744862G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs927869403	p.Leu487Phe	missense variant	-	NC_000001.11:g.18744870C>T	TOPMed,gnomAD
rs927869403	p.Leu487Val	missense variant	-	NC_000001.11:g.18744870C>G	TOPMed,gnomAD
rs927869403	p.Leu487Phe	missense variant	-	NC_000001.11:g.18744870C>T	NCI-TCGA
rs577652552	p.Gly488Arg	missense variant	-	NC_000001.11:g.18744873G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1393221176	p.Glu489Val	missense variant	-	NC_000001.11:g.18744877A>T	TOPMed
rs749464008	p.Glu489Gln	missense variant	-	NC_000001.11:g.18744876G>C	ExAC,gnomAD
rs1308809622	p.His490Pro	missense variant	-	NC_000001.11:g.18744880A>C	TOPMed
rs774554234	p.His490Asn	missense variant	-	NC_000001.11:g.18744879C>A	ExAC,TOPMed,gnomAD
rs1341654814	p.Ser491Cys	missense variant	-	NC_000001.11:g.18744883C>G	TOPMed,gnomAD
rs1341654814	p.Ser491Phe	missense variant	-	NC_000001.11:g.18744883C>T	TOPMed,gnomAD
rs1055044007	p.Ala492Val	missense variant	-	NC_000001.11:g.18744886C>T	TOPMed,gnomAD
rs1055044007	p.Ala492Asp	missense variant	-	NC_000001.11:g.18744886C>A	TOPMed,gnomAD
rs760071292	p.Val493Ala	missense variant	-	NC_000001.11:g.18744889T>C	ExAC
rs1316588625	p.Val493Met	missense variant	-	NC_000001.11:g.18744888G>A	TOPMed,gnomAD
rs1270414541	p.Gly495Ala	missense variant	-	NC_000001.11:g.18744895G>C	gnomAD
rs556804253	p.Leu496Phe	missense variant	-	NC_000001.11:g.18744897C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs988466486	p.Pro498Thr	missense variant	-	NC_000001.11:g.18744903C>A	gnomAD
rs1205456293	p.Val499Leu	missense variant	-	NC_000001.11:g.18744906G>T	TOPMed,gnomAD
rs1205456293	p.Val499Met	missense variant	-	NC_000001.11:g.18744906G>A	TOPMed,gnomAD
rs1246057824	p.Gly502Val	missense variant	-	NC_000001.11:g.18744916G>T	gnomAD
rs1448967432	p.Gln503Glu	missense variant	-	NC_000001.11:g.18744918C>G	gnomAD
rs1193911515	p.Gln503His	missense variant	-	NC_000001.11:g.18744920G>C	TOPMed,gnomAD
rs1375020817	p.Ala504Ser	missense variant	-	NC_000001.11:g.18744921G>T	TOPMed,gnomAD
rs1407261837	p.Tyr505Ter	stop gained	-	NC_000001.11:g.18744926C>G	TOPMed,gnomAD
COSM4931235	p.Tyr505Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18744924T>G	NCI-TCGA Cosmic
rs750150375	p.Tyr505Cys	missense variant	-	NC_000001.11:g.18744925A>G	ExAC,gnomAD
rs1477156627	p.Tyr505His	missense variant	-	NC_000001.11:g.18744924T>C	gnomAD
rs757967117	p.Ter506Trp	stop lost	-	NC_000001.11:g.18744928A>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006625	Cachexia	phenotype	BEFREE
C0008924	Cleft upper lip	disease	GWASCAT;GWASDB
C0015544	Failure to Thrive	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0024314	Lymphoproliferative Disorders	group	BEFREE
C0024636	Malocclusion	phenotype	BEFREE
C0026847	Spinal Muscular Atrophy	disease	BEFREE
C0026848	Myopathy	group	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0032000	Pituitary Adenoma	disease	BEFREE
C0032002	Pituitary Diseases	group	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE;LHGDN
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0206655	Alveolar rhabdomyosarcoma	disease	BEFREE;CTD_human;HPO;LHGDN;ORPHANET
C0206656	Embryonal Rhabdomyosarcoma	disease	BEFREE;LHGDN
C0220611	Childhood Rhabdomyosarcoma	disease	BEFREE
C0221406	Pituitary-dependent Cushing's disease	disease	BEFREE
C0238288	Muscular Dystrophy, Facioscapulohumeral	disease	BEFREE
C0278704	Malignant Childhood Neoplasm	group	BEFREE
C0553580	Ewings sarcoma	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C1261473	Sarcoma	group	BEFREE
C1834653	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	disease	BEFREE
C2315100	Pediatric failure to thrive	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3874346	Skeletal malocclusion	phenotype	BEFREE
C3887638	Failure to thrive in infant	disease	BEFREE

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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0003700	DNA-binding transcription factor activity	TAS
GO:0043565	sequence-specific DNA binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006338	chromatin remodeling	IEA
GO:0009653	anatomical structure morphogenesis	TAS
GO:0010453	regulation of cell fate commitment	IEA
GO:0014813	skeletal muscle satellite cell commitment	IEA
GO:0021527	spinal cord association neuron differentiation	IEA
GO:0021904	dorsal/ventral neural tube patterning	IEA
GO:0031062	positive regulation of histone methylation	IEA
GO:0043066	negative regulation of apoptotic process	TAS
GO:0043403	skeletal muscle tissue regeneration	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048663	neuron fate commitment	IEA
GO:0048706	embryonic skeletal system development	IEA
GO:0051101	regulation of DNA binding	IEA
GO:0051216	cartilage development	IEA
GO:0060415	muscle tissue morphogenesis	IEA
GO:2000288	positive regulation of myoblast proliferation	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C052383	1,1-bis(4-hydroxyphenyl)-2-phenylbut-1-ene	1,1-bis(4-hydroxyphenyl)-2-phenylbut-1-ene results in decreased expression of PAX7 mRNA	23373633
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of PAX7 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PAX7 mRNA	28628672
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat 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 PAX7 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide 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 PAX7 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat 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 PAX7 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with p-Chloromercuribenzoic Acid 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 PAX7 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A 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 PAX7 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid 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 PAX7 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat 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 PAX7 mRNA	27188386
C496492	abrine	abrine results in decreased expression of PAX7 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of PAX7 mRNA	26690555
C016601	afimoxifene	afimoxifene results in decreased expression of PAX7 mRNA	23373633
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of PAX7 exon	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of PAX7 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of PAX7 intron	30157460
C015001	arsenite	arsenite results in increased methylation of PAX7 promoter	23974009
D001280	Atrazine	Atrazine results in decreased expression of PAX7 mRNA	25929836
D001280	Atrazine	Atrazine results in increased expression of PAX7 mRNA	22378314
C487081	belinostat	belinostat results in increased expression of PAX7 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat 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 PAX7 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of PAX7 intron	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of PAX7 intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of PAX7 mRNA	30951980
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of PAX7 mRNA	28628672
C006780	bisphenol A	[bisphenol A co-treated with Tretinoin] results in increased expression of PAX7 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of PAX7 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of PAX7 mRNA	25181051
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PAX7 mRNA	28628672
C000611646	bisphenol F	bisphenol F results in decreased expression of PAX7 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of PAX7 mRNA	26079696
D002104	Cadmium	Cadmium results in increased expression of PAX7 mRNA	25149082
D002220	Carbamazepine	Carbamazepine affects the expression of PAX7 mRNA	25979313
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PAX7 gene	20938992
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of PAX7 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PAX7 mRNA	28628672
D004026	Dieldrin	Dieldrin results in decreased expression of PAX7 mRNA	28385952
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of PAX7 mRNA	31163220
C516138	dorsomorphin	[NOG protein co-treated with belinostat 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 PAX7 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide 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 PAX7 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat 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 PAX7 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic Acid 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 PAX7 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A 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 PAX7 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid 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 PAX7 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat 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 PAX7 mRNA	27188386
D004958	Estradiol	Estradiol results in decreased expression of PAX7 mRNA	23373633
D000431	Ethanol	Ethanol results in decreased expression of PAX7 protein	28919490
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PAX7 mRNA	17606305
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PAX7 gene	20938992
D004397	Fonofos	Fonofos results in increased methylation of PAX7 promoter	22847954
C082359	imidacloprid	imidacloprid results in decreased expression of PAX7 protein	27444676
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of PAX7 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of PAX7 mRNA	28628672
D000077146	Irinotecan	Irinotecan analog results in decreased expression of PAX7 mRNA	18927307
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide 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 PAX7 mRNA	27188386
D008701	Methapyrilene	Methapyrilene affects the methylation of PAX7 intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PAX7 gene	20938992
C028577	monobutyl phthalate	monobutyl phthalate results in increased expression of PAX7 mRNA	29162477
D009151	Mustard Gas	Mustard Gas results in increased expression of PAX7 mRNA	15674843
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in decreased expression of PAX7 mRNA	27935865
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat 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 PAX7 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of PAX7 mRNA	26272509
D010278	Parathion	Parathion results in increased methylation of PAX7 promoter	22847954
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic Acid 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 PAX7 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in increased expression of PAX7 mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PAX7 mRNA	19710929
D012293	Rifampin	Rifampin results in decreased expression of PAX7 mRNA	24552687
C012568	terbufos	terbufos results in increased methylation of PAX7 promoter	22847954
D013739	Testosterone	Testosterone results in increased expression of PAX7 mRNA	22138414
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PAX7 mRNA	24058054
D014118	Toxins, Biological	Toxins, Biological affects the expression of PAX7 mRNA	19682533
D014212	Tretinoin	Tretinoin results in decreased expression of PAX7 mRNA	21934132
D014212	Tretinoin	[bisphenol A co-treated with Tretinoin] results in increased expression of PAX7 mRNA	30951980
D014212	Tretinoin	SHH protein inhibits the reaction [Tretinoin results in increased expression of PAX7 protein]	15996115
D014212	Tretinoin	Tretinoin results in increased expression of PAX7 protein	15996115
C012589	trichostatin A	[NOG protein co-treated with trichostatin A 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 PAX7 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of PAX7 mRNA	24935251; 26272509;
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid 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 PAX7 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PAX7 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of PAX7 mRNA	23179753; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of PAX7 mRNA	23179753; 24383497; 26272509;
D014635	Valproic Acid	Valproic Acid results in decreased expression of PAX7 mRNA	24896083
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat 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 PAX7 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of PAX7 mRNA	26272509
C581157	XL147	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in decreased expression of PAX7 mRNA	27935865

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0160	Chromosomal rearrangement
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0517	Myogenesis
KW-0539	Nucleus
KW-0563	Paired box
KW-0656	Proto-oncogene
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR003654	OAR_dom
IPR043182	PAIRED_DNA_bd_dom
IPR001523	Paired_dom
IPR022106	Pax7_C
IPR036388	WH-like_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2
PS50803	OAR
PS00034	PAIRED_1
PS51057	PAIRED_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF00292	PAX
PF12360	Pax7

Gene: PAX7

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

Identified variants/mutations related to cleft phenotype

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