CleftGeneDB-Search

Gene: IRF6

Basic information

Tag	Content
Uniprot ID	O14896; B4DLE2; D3DT90; F5GWX8; G0ZTL0;
Entrez ID	3664
Genbank protein ID	AAH14852.1; AAB84111.1; EAW93438.1; AEL89176.1; EAW93439.1; BAG59504.1;
Genbank nucleotide ID	NM_001206696.1; NM_006147.3;
Ensembl protein ID	ENSP00000355988; ENSP00000440532;
Ensembl nucleotide ID	ENSG00000117595
Gene name	Interferon regulatory factor 6
Gene symbol	IRF6
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	18278815; 16096995; 25592222; 12920575; 16132054; 18247422; 26346622; 20121942; 16160700; 15317890; 12964020; 20436469; 21039277; 20799332; 18209213; 17702008; 22887868; 25579819; 18506368; 17438386; 19734457; 20544801; 21683068; 25853057; 17549393; 15994871; 19419265; 25896061; 26714022; 12219090; 19536891; 20564431; 21834040; 23029012; 23921572; 21045959; 23169698; 20652317; 14618417; 27033726; 23940636; 15558496; 18798331; 19388848; 15013698; 14757865; 16998136; 23713753; 15472655; 25896037;
Functional description	Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity).
Sequence	MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ EEENTIFKAW 60 AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT KEVPMNPVKI YQVCDIPQPQ 120 GSIINPGSTG SAPWDEKDND VDEEDEEDEL DQSQHHVPIQ DTFPFLNING SPMAPASVGN 180 CSVGNCSPEA VWPKTEPLEM EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT 240 MTVSNPQGCR LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR 300 GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET FLSDLIAHQK 360 GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR MIYEMFSGDF TRSFDSGSVR 420 LQISTPDIKD NIVAQLKQLY RILQTQESWQ PMQPTPSMQL PPALPPQ 467

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	IRF6	102190443	A0A452EQT2			Capra hircus	Prediction	More>>
1:1 ortholog	IRF6	100051502	A0A3Q2HQB9			Equus caballus	Prediction	More>>
1:1 ortholog	IRF6	3664	O14896	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Irf6	54139	P97431	CPO	E14.0, E13.5, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	IRF6	457701	A0A2I3TSL3			Pan troglodytes	Prediction	More>>
1:1 ortholog	IRF6	397521	E9LK28			Sus scrofa	Prediction	More>>
1:1 ortholog	Irf6	364081	D4AAV0			Rattus norvegicus	Prediction	More>>
1:1 ortholog	irf6	393570	Q6PGZ7			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
IRF6	rs1319435-C/C	PCR	25853057
IRF6	rs642961	PCR using Taqman assay method	25896037
IRF6	rs7545538	MiSeq Benchtop Sequencer (Illumina)	25592222
IRF6	rs642961	Genewide tagging	25896061
IRF6	c.2T>C;	PCR	23713753
IRF6	c.635delG;	PCR	23713753
IRF6	c.627delC;	PCR	23713753
IRF6	c.610C>T;	PCR	23713753
IRF6	c.1234C>T	PCR	23713753
IRF6	c.21_23del(AGTCCGGCTAAAG);	PCR	23713753
IRF6	rs642961	Linkage disequilibrium	22887868
IRF6	rs2235371	Genotyping	21039277
IRF6	rs642961	Genotyping	20799332
IRF6	rs642961	Genotyping	20121942
IRF6	rs2235371	PCR	19734457
IRF6	rs2235375	PCR	19734457
IRF6	rs1856161	Genotyping	19536891
IRF6	rs2235371	Genotyping	19536891
IRF6	rs2235377	Genotyping	19536891
IRF6	rs2073485;	TDT	19388848
IRF6	rs599021	TDT	19388848
IRF6	rs4844880;	TDT	19388848
IRF6	rs4844880	Genotyping	18278815
IRF6	c.1259G>A;	PCR-RFLP; sequencing	18506368
IRF6	c.396C>T	PCR-RFLP; sequencing	18506368
IRF6	c.123C>T;	PCR-RFLP; sequencing	18506368
IRF6	rs861019	Sequencing	18209213
IRF6	rs7552506	Sequencing	18209213
IRF6	c.201C>A; p.Y67*	DNA Sequencing	17549393
IRF6	rs2235371	TDT	17438386
IRF6	rs2013162	TDT	17438386
IRF6	CC5.6GT	PCR; direct sequencing	16998136
IRF6	c.342T>A	PCR; direct sequencing	16998136
IRF6	c.566delA	PCR; direct sequencing	16998136
IRF6	c.748C>T	PCR; direct sequencing	16998136
IRF6	c.756C>A	PCR; direct sequencing	16998136
IRF6	c.989C>A	PCR; direct sequencing	16998136
IRF6	c.1209C>G	PCR; direct sequencing	16998136
IRF6	c.1316delT	PCR; direct sequencing	16998136
IRF6	c.250C>T	Direct sequencing	16160700
IRF6	c.353_354delAG	Direct sequencing	16160700
IRF6	c.358C>T	Direct sequencing	16160700
IRF6	c.749G>A	Direct sequencing	16160700
IRF6	c.1075C>T	Direct sequencing	16160700
IRF6	c.1198C>T	Direct sequencing	16160700
IRF6	c.1219delT	Direct sequencing	16160700
IRF6	c.1234C>T	Direct sequencing	16160700
IRF6	c.1271C>G	Direct sequencing	16160700
IRF6	c.100A>G	Direct sequencing	16160700
IRF6	rs2013162	Genotyping	16132054
IRF6	rs1319435	Genotyping	16096995
IRF6	rs2013162	Genotyping	16096995
IRF6	rs2235375	Genotyping	16096995
IRF6	rs2235543	Genotyping	16096995
IRF6	c.820G>A	PCR	15994871
IRF6	rs2235375	TDT	15558496
IRF6	rs2013162	TDT	15558496
IRF6	c.250C>T; p.R84C	Direct sequencing	15472655
IRF6	c.25C>T; p.R9W	Direct sequencing	15472655
IRF6	p.V274I	TDT	15317890
IRF6	c.650G>A	LInkage analysis	15013698
IRF6	c.65T>C;	Genotyping	14757865
IRF6	c.47C>T;	Genotyping	14757865
IRF6	c.298A>G;	Genotyping	14757865
IRF6	c.755T>C;	Genotyping	14757865
IRF6	c.775C>T	Genotyping	14757865
IRF6	c.191T>C;	Genotyping	14757865
IRF6	c.1186C>T;	PCR	14618417
IRF6	c.17162del	PCR	14618417
IRF6	c.134G>A;	PCR	14618417
IRF6	c.1461C>T; r.1461c>t; p.R400W	Direct sequencing	12920575
IRF6	c.1400G>A; r.1400g>a; p.W379X;	Direct sequencing	12920575
IRF6	c.279C>T; r.279c>t; p.R6C;	Direct sequencing	12920575
IRF6	c.268C>T; r.268c>t; p.A2V;	Direct sequencing	12920575
IRF6	c.74G>C	Genotyping	12964020
IRF6	c.399delC;	Genotyping	12964020
IRF6	c.39G>A; p.Trp13*	Targeted sequencing	26346622
IRF6	c.250C>T; p.R84C	Targeted sequencing	26346622
IRF6	c.254G>T; p.Cys85Phe	Targeted sequencing	26346622
IRF6	c.1060+1G>T	Targeted sequencing	26346622
IRF6	c.165delC; p.Ile56Phefs*7	Targeted sequencing	26346622
IRF6	c.379delG; p.Gly127Valfs*43	Targeted sequencing	26346622
IRF6	c.1289_1297del; p.Asp430_Ile423del	Targeted sequencing	26346622
IRF6	rs861019; c.73A>G	Direct sequencing; PCR	No PMID: Sup Ref #1
IRF6	rs2013162; c.459C>A; p.Ser153Ser	Direct sequencing; PCR	No PMID: Sup Ref #1
IRF6	rs2235372; c.820G>A; p.V274I	Direct sequencing; PCR	No PMID: Sup Ref #1
IRF6	rs2235371	PCR; LRT	17702008
IRF6	c.87_160delinsC; p.His30IlefsX9	PCR	18247422
IRF6	c.16dupC; p.Arg6ProfsX15	PCR	18247422
IRF6	rs2236908C>G;	Genotyping	No PMID: Sup Ref #2
IRF6	rs2230907G>T;	Genotyping	No PMID: Sup Ref #2
IRF6	rs2235373C>T;	Genotyping	No PMID: Sup Ref #2
IRF6	rs2235375C>G	Genotyping	No PMID: Sup Ref #2
IRF6	rs2236909T>C;	Genotyping	No PMID: Sup Ref #2
IRF6	rs642961G>A	Genotyping	21683068
IRF6	rs2235371G>A; p.Val274Ile	Genotyping	23169698
IRF6	rs2235371C>T	Genotyping	31609978
IRF6	rs2235377T>C	Genotyping	31609978
IRF6	rs12405750C>T	Genotyping	31609978
IRF6	rs10863790A>C	Genotyping	31609978
IRF6	rs72741048A>T	Genotyping	31609978
IRF6	rs189000G>A	Genotyping	31609978
IRF6	rs1387934C>T	Genotyping	31609978
IRF6	rs11119345A>G	GWAS; EMMAX; and TWAS	33137956
IRF6	rs861020A>G	Genotyping	20564431
IRF6	rs590223A>G	Genotyping	20572854
IRF6	rs2073485G>A	Genotyping	23921572
IRF6	rs2235371C>T	Genotyping	23921572
IRF6	rs2236909G>A	Genotyping	23921572
IRF6	rs861020G>A	Genotyping	23921572
IRF6	rs2235371G>A	Genotyping and TDT	26714022
IRF6	c.820G>A	PCR	19419265
IRF6	rs2235371; p.V274I	TaqMan	23029012
IRF6	rs2235371C>T; p.V274I	PCR	23940636
IRF6	rs2013162C>A	PCR	23940636
IRF6	rs861020G>A	GWAS	28232668
IRF6	rs642961G>A	GWAS	28232668
IRF6	rs2064163C>A	GWAS	28232668
IRF6	rs9430019G>A	GWAS	28232668
IRF6	rs642961G>A	PCR-RFLP	20544801
IRF6	c.1088-1091delTCTA; p.Ile363Argfs*395 (heterozygous)	WES and Sanger sequencing	32582293
IRF6	c.1198C>T; p.R400W (heterozygous)	WES and Sanger sequencing	32945398
IRF6	g.209963979; c.921C>T; p.Ser307Ser	WES and Sanger sequencing	32784565
IRF6	rs2235371C>T	TaqMan allelic discrimination assay	31495697
IRF6	c.273A>T; p.Arg91Ser (heterozygous)	PCR	30195270
IRF6	c.362G>T; p.Gly121Val (heterozygous)	PCR	30195270
IRF6	c.443A>G; p.Asp148Gly; c.457T>C; p.Ser153Ala; c.490C>G; p.Pro164Ala (triple compound heterozygous)	PCR	30195270
IRF6	c.514C>T; p.Pro172Ser (Heterozygous)	PCR	30195270
IRF6	c.543C>T; p.Cys181Cys (heterozygous)	PCR	30195270
IRF6	c.595G>A; p.Glu199Lys (heterozygous)	PCR	30195270
IRF6	c.635G>A; p.Ser212Asn (homozygous)	PCR	30195270
IRF6	c.1173G>T; p.Leu391Phe; c.1175T>G; p.Val392Gly (compound heterozygous)	PCR	30195270
IRF6	c;26G>A; p.Arg9Gln (heterozygous)	WES and Sanger sequencing	30053123
IRF6	rs630065T>C	Genotyping	21462296
IRF6	rs17389541A>G	Genotyping	21462296
IRF6	c.535G>A; p.V179I	WES and Sanger sequencing	26449438
IRF6	rs10863790	Genotyping and GWAS	20436469
IRF6	c.961C>T; p.Val321Met	WES	33136784
IRF6	rs11119345	Genotyping and GWAS	27033726
IRF6	rs56057644	Genotyping and GWAS	27033726
IRF6	rs1044516	Genotyping and GWAS	27033726
IRF6	rs20273485	GWAS	20436469
IRF6	rs2013162	GWAS	20436469
IRF6	rs861020	GWAS	20436469
IRF6	rs10863790	GWAS	20436469
IRF6	haplotype combination rs2064163-rs2235371	GWAS	3221112
IRF6	haplotype combination rs11119388-rs2235371	GWAS	3221112

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1461016620	p.Ala2Pro	missense variant	-	NC_000001.11:g.209801410C>G	gnomAD
rs28942093	p.Ala2Val	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801409G>A	UniProt,dbSNP
VAR_014961	p.Ala2Val	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801409G>A	UniProt
rs28942093	p.Ala2Val	missense variant	-	NC_000001.11:g.209801409G>A	-
RCV000003585	p.Ala2Val	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801409G>A	ClinVar
rs757558481	p.His4Tyr	missense variant	-	NC_000001.11:g.209801404G>A	ExAC,gnomAD
rs1287814588	p.Pro5Leu	missense variant	-	NC_000001.11:g.209801400G>A	TOPMed
rs28942094	p.Arg6Cys	missense variant	-	NC_000001.11:g.209801398G>A	-
rs28942094	p.Arg6Cys	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801398G>A	UniProt,dbSNP
VAR_030046	p.Arg6Cys	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801398G>A	UniProt
RCV000413551	p.Arg6Cys	missense variant	-	NC_000001.11:g.209801398G>A	ClinVar
rs751967341	p.Arg6His	missense variant	-	NC_000001.11:g.209801397C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg7Thr	missense variant	-	NC_000001.11:g.209801394C>G	NCI-TCGA
COSM3789435	p.Val8Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801391A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg9Pro	missense variant	-	NC_000001.11:g.209801388C>G	NCI-TCGA
RCV000590928	p.Arg9Trp	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801389G>A	ClinVar
rs1553248641	p.Arg9Trp	missense variant	-	NC_000001.11:g.209801389G>A	-
rs1553248640	p.Arg9Gln	missense variant	-	NC_000001.11:g.209801388C>T	-
RCV000523309	p.Arg9Gln	missense variant	-	NC_000001.11:g.209801388C>T	ClinVar
COSM6060781	p.Lys11Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209801383T>A	NCI-TCGA Cosmic
RCV000482166	p.Pro12Ter	frameshift	-	NC_000001.11:g.209801385dup	ClinVar
COSM425217	p.Trp13Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801376C>G	NCI-TCGA Cosmic
RCV000702603	p.Leu14Arg	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209801372_209801373delinsAC	ClinVar
rs1257209328	p.Val15Gly	missense variant	-	NC_000001.11:g.209801370A>C	gnomAD
NCI-TCGA novel	p.Ala16Val	missense variant	-	NC_000001.11:g.209801367G>A	NCI-TCGA
VAR_030047	p.Ala16Val	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
VAR_014963	p.Val18Met	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
VAR_014962	p.Val18Ala	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
rs387906967	p.Leu22Pro	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209801349A>G	-
rs387906967	p.Leu22Pro	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801349A>G	UniProt,dbSNP
VAR_030048	p.Leu22Pro	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801349A>G	UniProt
RCV000023629	p.Leu22Pro	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209801349A>G	ClinVar
RCV000023628	p.Leu22Pro	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801349A>G	ClinVar
COSM3482934	p.Pro24Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801343G>A	NCI-TCGA Cosmic
rs758936784	p.Ile27Ser	missense variant	-	NC_000001.11:g.209801334A>C	ExAC,gnomAD
rs1553248637	p.Trp28Gly	missense variant	-	NC_000001.11:g.209801332A>C	-
RCV000550426	p.Trp28Gly	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209801332A>C	ClinVar
rs1057523749	p.Leu29Arg	missense variant	-	NC_000001.11:g.209801328A>C	-
RCV000426444	p.Leu29Arg	missense variant	-	NC_000001.11:g.209801328A>C	ClinVar
rs1195798499	p.Arg31Lys	missense variant	-	NC_000001.11:g.209801322C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser33Tyr	missense variant	-	NC_000001.11:g.209801316G>T	NCI-TCGA
rs753244751	p.Ser33Cys	missense variant	-	NC_000001.11:g.209801316G>C	ExAC,gnomAD
rs1057521133	p.Lys34Glu	missense variant	-	NC_000001.11:g.209801314T>C	-
NCI-TCGA novel	p.Lys34Thr	missense variant	-	NC_000001.11:g.209801313T>G	NCI-TCGA
RCV000437849	p.Lys34Glu	missense variant	-	NC_000001.11:g.209801314T>C	ClinVar
NCI-TCGA novel	p.Arg35ThrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.209801311_209801312insT	NCI-TCGA
rs1334475866	p.Arg35His	missense variant	-	NC_000001.11:g.209801310C>T	TOPMed,gnomAD
rs771539601	p.Arg35Cys	missense variant	-	NC_000001.11:g.209801311G>A	ExAC,TOPMed,gnomAD
RCV000449637	p.Ile38Thr	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801301A>G	ClinVar
rs766632816	p.Ile38Val	missense variant	-	NC_000001.11:g.209801302T>C	ExAC,gnomAD
rs1060499555	p.Ile38Thr	missense variant	-	NC_000001.11:g.209801301A>G	-
rs368415169	p.Ile38Met	missense variant	-	NC_000001.11:g.209801300A>C	ESP,TOPMed,gnomAD
COSM3482933	p.Pro39Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801299G>A	NCI-TCGA Cosmic
COSM1295816	p.Pro39Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801299G>C	NCI-TCGA Cosmic
VAR_014964	p.Pro39Ala	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
RCV000539247	p.Trp40Cys	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801294C>A	ClinVar
rs1553248635	p.Trp40Cys	missense variant	-	NC_000001.11:g.209801294C>A	-
COSM1320516	p.Arg45Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801280C>G	NCI-TCGA Cosmic
rs774307404	p.Arg45Trp	missense variant	-	NC_000001.11:g.209801281G>A	ExAC,TOPMed,gnomAD
rs121434229	p.Arg45Gln	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801280C>T	UniProt,dbSNP
VAR_030049	p.Arg45Gln	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801280C>T	UniProt
rs121434229	p.Arg45Gln	missense variant	-	NC_000001.11:g.209801280C>T	1000Genomes,ExAC,gnomAD
RCV000003590	p.Arg45Gln	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801280C>T	ClinVar
rs1174452928	p.Ser47Cys	missense variant	-	NC_000001.11:g.209801275T>A	gnomAD
rs1022594601	p.Ser47Thr	missense variant	-	NC_000001.11:g.209801274C>G	gnomAD
rs1022594601	p.Ser47Ile	missense variant	-	NC_000001.11:g.209801274C>A	gnomAD
rs762950603	p.Pro48Leu	missense variant	-	NC_000001.11:g.209801271G>A	ExAC,gnomAD
RCV000033164	p.Gln49Ter	nonsense	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801269G>A	ClinVar
rs397515434	p.Gln49Ter	stop gained	-	NC_000001.11:g.209801269G>A	-
rs1294525652	p.Gln50Pro	missense variant	-	NC_000001.11:g.209801265T>G	TOPMed
COSM6060782	p.Glu51Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801263C>T	NCI-TCGA Cosmic
rs886039570	p.Glu52Ter	stop gained	-	NC_000001.11:g.209801260C>A	-
RCV000255193	p.Glu52Ter	nonsense	-	NC_000001.11:g.209801260C>A	ClinVar
COSM3482932	p.Glu53Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801257C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn54His	missense variant	-	NC_000001.11:g.209801254T>G	NCI-TCGA
rs769172583	p.Ile56Val	missense variant	-	NC_000001.11:g.209801248T>C	ExAC,TOPMed,gnomAD
COSM1929271	p.Phe57LeuPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209801243A>-	NCI-TCGA Cosmic
COSM903347	p.Trp60Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209796547C>T	NCI-TCGA Cosmic
VAR_014965	p.Trp60Gly	Missense	Popliteal pterygium syndrome (PPS) [MIM:119500]	-	UniProt
RCV000413706	p.Ala61Thr	missense variant	-	NC_000001.11:g.209796546C>T	ClinVar
rs1057517975	p.Ala61Thr	missense variant	-	NC_000001.11:g.209796546C>T	-
VAR_014966	p.Ala61Gly	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
NCI-TCGA novel	p.Val62Ile	missense variant	-	NC_000001.11:g.209796543C>T	NCI-TCGA
rs1238041386	p.Glu63Gln	missense variant	-	NC_000001.11:g.209796540C>G	gnomAD
VAR_030050	p.Thr64Ile	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
NCI-TCGA novel	p.Lys66Ter	stop gained	-	NC_000001.11:g.209796531T>A	NCI-TCGA
VAR_014967	p.Lys66Thr	Missense	Popliteal pterygium syndrome (PPS) [MIM:119500]	-	UniProt
rs776236749	p.Gly70Arg	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209796519C>T	UniProt,dbSNP
VAR_014968	p.Gly70Arg	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209796519C>T	UniProt
rs776236749	p.Gly70Arg	missense variant	-	NC_000001.11:g.209796519C>T	ExAC,gnomAD
rs770388841	p.Val71Leu	missense variant	-	NC_000001.11:g.209796516C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val71GlyPheSerTerUnk	frameshift	-	NC_000001.11:g.209796515_209796516insC	NCI-TCGA
COSM458294	p.Asp72Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796513C>T	NCI-TCGA Cosmic
rs1308973974	p.Asp75Glu	missense variant	-	NC_000001.11:g.209796502G>T	TOPMed,gnomAD
RCV000255718	p.Pro76Ser	missense variant	-	NC_000001.11:g.209796501G>A	ClinVar
RCV000640123	p.Pro76Ser	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209796501G>A	ClinVar
rs886039388	p.Pro76Ser	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209796501G>A	UniProt,dbSNP
VAR_014969	p.Pro76Ser	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209796501G>A	UniProt
rs886039388	p.Pro76Ser	missense variant	-	NC_000001.11:g.209796501G>A	-
rs1553248271	p.Lys78Glu	missense variant	-	NC_000001.11:g.209796495T>C	-
RCV000532310	p.Lys78Glu	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209796495T>C	ClinVar
rs1553248270	p.Ala81Asp	missense variant	-	NC_000001.11:g.209796485G>T	-
RCV000533956	p.Ala81Asp	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209796485G>T	ClinVar
NCI-TCGA novel	p.Gln82Glu	missense variant	-	NC_000001.11:g.209796483G>C	NCI-TCGA
NCI-TCGA novel	p.Gln82His	missense variant	-	NC_000001.11:g.209796481C>G	NCI-TCGA
rs916433104	p.Gln82Arg	missense variant	-	NC_000001.11:g.209796482T>C	TOPMed,gnomAD
VAR_014970	p.Gln82Lys	Missense	Popliteal pterygium syndrome (PPS) [MIM:119500]	-	UniProt
COSM425216	p.Arg84Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796477G>T	NCI-TCGA Cosmic
RCV000255145	p.Arg84Cys	missense variant	-	NC_000001.11:g.209796477G>A	ClinVar
RCV000489578	p.Arg84His	missense variant	-	NC_000001.11:g.209796476C>T	ClinVar
RCV000003583	p.Arg84Cys	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796477G>A	ClinVar
rs121434227	p.Arg84His	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>T	UniProt,dbSNP
VAR_014972	p.Arg84His	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>T	UniProt
rs121434227	p.Arg84His	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209796476C>T	-
RCV000703760	p.Arg84Cys	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796477G>A	ClinVar
RCV000023630	p.Arg84Leu	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>A	ClinVar
RCV000003584	p.Arg84His	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>T	ClinVar
rs121434227	p.Arg84Leu	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>A	UniProt,dbSNP
VAR_064475	p.Arg84Leu	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>A	UniProt
rs121434227	p.Arg84Leu	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209796476C>A	-
rs121434226	p.Arg84Cys	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209796477G>A	-
rs121434226	p.Arg84Cys	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796477G>A	UniProt,dbSNP
VAR_014971	p.Arg84Cys	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796477G>A	UniProt
VAR_030051	p.Arg84Gly	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
COSM903346	p.Ala86Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796470G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala86Thr	missense variant	-	NC_000001.11:g.209796471C>T	NCI-TCGA
RCV000640124	p.Leu87Pro	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209796467A>G	ClinVar
NCI-TCGA novel	p.Leu87Phe	missense variant	-	NC_000001.11:g.209796468G>A	NCI-TCGA
rs1553248267	p.Leu87Pro	missense variant	-	NC_000001.11:g.209796467A>G	-
rs1553248265	p.Asn88Lys	missense variant	-	NC_000001.11:g.209796463A>T	-
RCV000640127	p.Asn88Lys	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209796463A>T	ClinVar
VAR_014973	p.Asn88His	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
RCV000309598	p.Lys89Ter	nonsense	-	NC_000001.11:g.209796462T>A	ClinVar
rs886041484	p.Lys89Ter	stop gained	-	NC_000001.11:g.209796462T>A	-
VAR_014974	p.Lys89Glu	Missense	Popliteal pterygium syndrome (PPS) [MIM:119500]	-	UniProt
VAR_014975	p.Ser90Gly	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
rs1553248262	p.Arg91Ser	missense variant	-	NC_000001.11:g.209796454T>A	-
NCI-TCGA novel	p.Arg91Gly	missense variant	-	NC_000001.11:g.209796456T>C	NCI-TCGA
RCV000677181	p.Arg91Ser	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209796454T>A	ClinVar
COSM236762	p.Glu92Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796453C>T	NCI-TCGA Cosmic
RCV000003580	p.Glu92Ter	nonsense	Van der Woude syndrome (VWS1)	NC_000001.11:g.209796453C>A	ClinVar
NCI-TCGA novel	p.Glu92Gln	missense variant	-	NC_000001.11:g.209796453C>G	NCI-TCGA
rs121434224	p.Glu92Ter	stop gained	-	NC_000001.11:g.209796453C>A	-
rs748520173	p.Asn94Ser	missense variant	-	NC_000001.11:g.209796446T>C	ExAC,TOPMed,gnomAD
RCV000503820	p.Met96Ile	missense variant	-	NC_000001.11:g.209796439C>T	ClinVar
rs779234287	p.Met96Ile	missense variant	-	NC_000001.11:g.209796439C>T	ExAC,gnomAD
VAR_014976	p.Asp98His	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
COSM903345	p.Gly99Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796431C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly99Asp	missense variant	-	NC_000001.11:g.209796431C>T	NCI-TCGA
VAR_030052	p.Thr100Ala	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
COSM269387	p.Lys101Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796426T>C	NCI-TCGA Cosmic
COSM1320517	p.Pro104Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796417G>A	NCI-TCGA Cosmic
rs762910480	p.Met105Ile	missense variant	-	NC_000001.11:g.209796412C>T	ExAC,gnomAD
rs1032249718	p.Met105Val	missense variant	-	NC_000001.11:g.209796414T>C	TOPMed
rs762910480	p.Met105Ile	missense variant	-	NC_000001.11:g.209796412C>A	ExAC,gnomAD
rs12126910	p.Val108Leu	missense variant	-	NC_000001.11:g.209796405C>G	gnomAD
rs12126910	p.Val108Leu	missense variant	-	NC_000001.11:g.209796405C>A	gnomAD
COSM903344	p.Lys109Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796400C>A	NCI-TCGA Cosmic
rs116264750	p.Gln112Glu	missense variant	-	NC_000001.11:g.209796393G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6123881	p.Asp115Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796384C>A	NCI-TCGA Cosmic
rs1223298339	p.Ile116Leu	missense variant	-	NC_000001.11:g.209796381T>G	TOPMed
COSM3482931	p.Pro117Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796378G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro117Leu	missense variant	-	NC_000001.11:g.209796377G>A	NCI-TCGA
rs1425877931	p.Gln118Arg	missense variant	-	NC_000001.11:g.209796374T>C	gnomAD
rs1057520569	p.Gln118Ter	stop gained	-	NC_000001.11:g.209796375G>A	TOPMed
rs1057520569	p.Gln118Glu	missense variant	-	NC_000001.11:g.209796375G>C	TOPMed
RCV000435675	p.Gln118Ter	nonsense	-	NC_000001.11:g.209796375G>A	ClinVar
rs907520955	p.Pro119Leu	missense variant	-	NC_000001.11:g.209796371G>A	TOPMed
NCI-TCGA novel	p.Gln120His	missense variant	-	NC_000001.11:g.209796367C>A	NCI-TCGA
rs767916600	p.Gln120Arg	missense variant	-	NC_000001.11:g.209796368T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly121Cys	missense variant	-	NC_000001.11:g.209796366C>A	NCI-TCGA
RCV000677182	p.Gly121Val	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209796365C>A	ClinVar
rs1553248247	p.Gly121Val	missense variant	-	NC_000001.11:g.209796365C>A	-
rs373642185	p.Ser122Leu	missense variant	-	NC_000001.11:g.209796362G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile123Ser	missense variant	-	NC_000001.11:g.209796359A>C	NCI-TCGA
rs1488488716	p.Ile124Phe	missense variant	-	NC_000001.11:g.209796357T>A	gnomAD
rs1291766475	p.Gly127Ala	missense variant	-	NC_000001.11:g.209795418C>G	gnomAD
rs111967373	p.Thr129Ala	missense variant	-	NC_000001.11:g.209795413T>C	gnomAD
rs772727412	p.Ser131Pro	missense variant	-	NC_000001.11:g.209795407A>G	ExAC,gnomAD
rs1361723326	p.Ala132Val	missense variant	-	NC_000001.11:g.209795403G>A	TOPMed
rs1452680898	p.Pro133Leu	missense variant	-	NC_000001.11:g.209795400G>A	TOPMed
NCI-TCGA novel	p.Trp134Cys	missense variant	-	NC_000001.11:g.209795396C>A	NCI-TCGA
NCI-TCGA novel	p.Trp134Ter	stop gained	-	NC_000001.11:g.209795397C>T	NCI-TCGA
rs767120501	p.Trp134Arg	missense variant	-	NC_000001.11:g.209795398A>G	ExAC,TOPMed,gnomAD
COSM3482928	p.Asp135Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795395C>T	NCI-TCGA Cosmic
rs761427808	p.Asp135Gly	missense variant	-	NC_000001.11:g.209795394T>C	ExAC,TOPMed,gnomAD
rs773927766	p.Glu136Lys	missense variant	-	NC_000001.11:g.209795392C>T	ExAC,TOPMed,gnomAD
COSM678790	p.Lys137Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795387C>A	NCI-TCGA Cosmic
rs147425628	p.Asn139Asp	missense variant	-	NC_000001.11:g.209795383T>C	ESP,TOPMed,gnomAD
rs1164527992	p.Asp140Asn	missense variant	-	NC_000001.11:g.209795380C>T	gnomAD
rs769053727	p.Val141Met	missense variant	-	NC_000001.11:g.209795377C>T	ExAC,gnomAD
rs1441749153	p.Asp142Gly	missense variant	-	NC_000001.11:g.209795373T>C	TOPMed
COSM1929263	p.Glu143Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795371C>T	NCI-TCGA Cosmic
rs1183465627	p.Glu144Asp	missense variant	-	NC_000001.11:g.209795366T>G	gnomAD
rs190422273	p.Asp145Val	missense variant	-	NC_000001.11:g.209795364T>A	1000Genomes,ExAC,gnomAD
rs770438720	p.Asp145Glu	missense variant	-	NC_000001.11:g.209795363A>T	ExAC
COSM71195	p.Glu147Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795358T>C	NCI-TCGA Cosmic
rs1553248182	p.Asp148Gly	missense variant	-	NC_000001.11:g.209795355T>C	-
rs745893677	p.Asp148Glu	missense variant	-	NC_000001.11:g.209795354A>T	ExAC,gnomAD
RCV000677183	p.Asp148Gly	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209795355T>C	ClinVar
rs1024327039	p.Glu149Lys	missense variant	-	NC_000001.11:g.209795353C>T	TOPMed
COSM6054427	p.Asp151Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795347C>T	NCI-TCGA Cosmic
rs1057520738	p.Gln152Ter	stop gained	-	NC_000001.11:g.209795344G>A	-
RCV000443013	p.Gln152Ter	nonsense	-	NC_000001.11:g.209795344G>A	ClinVar
rs781389179	p.Ser153Leu	missense variant	-	NC_000001.11:g.209795340G>A	ExAC,gnomAD
RCV000677184	p.Ser153Ala	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209795341A>C	ClinVar
rs1553248180	p.Ser153Ala	missense variant	-	NC_000001.11:g.209795341A>C	-
rs1261657409	p.His155Tyr	missense variant	-	NC_000001.11:g.209795335G>A	TOPMed
rs777922782	p.His156Arg	missense variant	-	NC_000001.11:g.209795331T>C	ExAC,gnomAD
COSM3482926	p.Pro158Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795326G>A	NCI-TCGA Cosmic
rs754733603	p.Pro158His	missense variant	-	NC_000001.11:g.209795325G>T	ExAC,TOPMed,gnomAD
rs754733603	p.Pro158Leu	missense variant	-	NC_000001.11:g.209795325G>A	ExAC,TOPMed,gnomAD
rs934436973	p.Ile159Ser	missense variant	-	NC_000001.11:g.209795322A>C	TOPMed
rs753585513	p.Gln160Leu	missense variant	-	NC_000001.11:g.209795319T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln160His	missense variant	-	NC_000001.11:g.209795318C>A	NCI-TCGA
rs1322638469	p.Gln160Ter	stop gained	-	NC_000001.11:g.209795320G>A	gnomAD
rs1222530151	p.Asp161Val	missense variant	-	NC_000001.11:g.209795316T>A	gnomAD
rs1310697098	p.Phe163Tyr	missense variant	-	NC_000001.11:g.209795310A>T	gnomAD
rs779914200	p.Phe163Leu	missense variant	-	NC_000001.11:g.209795311A>G	ExAC,gnomAD
rs1033149441	p.Pro164Ala	missense variant	-	NC_000001.11:g.209795308G>C	-
NCI-TCGA novel	p.Pro164Arg	missense variant	-	NC_000001.11:g.209795307G>C	NCI-TCGA
RCV000677185	p.Pro164Ala	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209795308G>C	ClinVar
rs756081116	p.Pro164Leu	missense variant	-	NC_000001.11:g.209795307G>A	ExAC,TOPMed,gnomAD
rs766995537	p.Ile168Val	missense variant	-	NC_000001.11:g.209795296T>C	ExAC,TOPMed,gnomAD
rs201297833	p.Asn169Ser	missense variant	-	NC_000001.11:g.209795292T>C	ExAC,TOPMed,gnomAD
rs1166692475	p.Gly170Ser	missense variant	-	NC_000001.11:g.209795290C>T	gnomAD
NCI-TCGA novel	p.Gly170Arg	missense variant	-	NC_000001.11:g.209795290C>G	NCI-TCGA
rs1268988128	p.Pro172His	missense variant	-	NC_000001.11:g.209792421G>T	TOPMed,gnomAD
RCV000677186	p.Pro172Ser	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209792422G>A	ClinVar
rs1268988128	p.Pro172Leu	missense variant	-	NC_000001.11:g.209792421G>A	TOPMed,gnomAD
rs1553247899	p.Pro172Ser	missense variant	-	NC_000001.11:g.209792422G>A	-
rs756721753	p.Met173Val	missense variant	-	NC_000001.11:g.209792419T>C	ExAC,gnomAD
rs751045613	p.Ala174Val	missense variant	-	NC_000001.11:g.209792415G>A	ExAC,TOPMed,gnomAD
rs1219340322	p.Val178Met	missense variant	-	NC_000001.11:g.209792404C>T	gnomAD
NCI-TCGA novel	p.Val183Met	missense variant	-	NC_000001.11:g.209792389C>T	NCI-TCGA
NCI-TCGA novel	p.Ser187Ile	missense variant	-	NC_000001.11:g.209792376C>A	NCI-TCGA
rs377332433	p.Pro188Leu	missense variant	-	NC_000001.11:g.209792373G>A	ESP,ExAC,TOPMed,gnomAD
RCV000699343	p.Glu189Lys	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209792371C>T	ClinVar
rs777210072	p.Val191Met	missense variant	-	NC_000001.11:g.209792365C>T	ExAC,gnomAD
RCV000254805	p.Trp192Ter	nonsense	-	NC_000001.11:g.209792360C>T	ClinVar
COSM4027767	p.Trp192Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209792361C>T	NCI-TCGA Cosmic
rs886039389	p.Trp192Ter	stop gained	-	NC_000001.11:g.209792360C>T	-
rs1399955256	p.Trp192Leu	missense variant	-	NC_000001.11:g.209792361C>A	gnomAD
rs760757234	p.Thr195Ile	missense variant	-	NC_000001.11:g.209792352G>A	ExAC,gnomAD
rs773191769	p.Pro197Leu	missense variant	-	NC_000001.11:g.209792346G>A	ExAC
rs1553247888	p.Glu199Lys	missense variant	-	NC_000001.11:g.209792341C>T	-
RCV000677187	p.Glu199Lys	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209792341C>T	ClinVar
rs772238833	p.Glu199Asp	missense variant	-	NC_000001.11:g.209792339C>A	ExAC,gnomAD
RCV000346568	p.Met200Val	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209792338T>C	ClinVar
RCV000396980	p.Met200Val	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000001.11:g.209792338T>C	ClinVar
RCV000284633	p.Met200Val	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209792338T>C	ClinVar
rs886045884	p.Met200Val	missense variant	-	NC_000001.11:g.209792338T>C	-
rs748299767	p.Glu201Lys	missense variant	-	NC_000001.11:g.209792335C>T	ExAC,gnomAD
rs774616831	p.Pro203Ser	missense variant	-	NC_000001.11:g.209792329G>A	ExAC,TOPMed,gnomAD
rs1447191778	p.Gln204Pro	missense variant	-	NC_000001.11:g.209792325T>G	TOPMed,gnomAD
rs892833659	p.Pro206Leu	missense variant	-	NC_000001.11:g.209792319G>A	TOPMed,gnomAD
rs201071781	p.Ile207Met	missense variant	-	NC_000001.11:g.209792315T>C	ESP,ExAC,gnomAD
rs781051292	p.Pro209Leu	missense variant	-	NC_000001.11:g.209792310G>A	ExAC,gnomAD
rs369802663	p.Tyr211Ser	missense variant	-	NC_000001.11:g.209792304T>G	ESP,ExAC,TOPMed,gnomAD
rs369802663	p.Tyr211Cys	missense variant	-	NC_000001.11:g.209792304T>C	ESP,ExAC,TOPMed,gnomAD
RCV000677188	p.Ser212Asn	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209792301C>T	ClinVar
rs923069332	p.Ser212Cys	missense variant	-	NC_000001.11:g.209792302T>A	TOPMed,gnomAD
rs1553247880	p.Ser212Asn	missense variant	-	NC_000001.11:g.209792301C>T	-
rs777125626	p.Ser213Thr	missense variant	-	NC_000001.11:g.209792299A>T	ExAC,gnomAD
rs757984142	p.Ser213Cys	missense variant	-	NC_000001.11:g.209792298G>C	ExAC,gnomAD
rs1315902592	p.Ser219Asn	missense variant	-	NC_000001.11:g.209792280C>T	TOPMed
rs1553247877	p.Ser220Phe	missense variant	-	NC_000001.11:g.209792277G>A	-
RCV000677639	p.Ser220Phe	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209792277G>A	ClinVar
rs752392670	p.Ser220Pro	missense variant	-	NC_000001.11:g.209792278A>G	ExAC,gnomAD
rs1342217893	p.Lys229Gln	missense variant	-	NC_000001.11:g.209790870T>G	gnomAD
RCV000486119	p.Lys229Ter	frameshift	-	NC_000001.11:g.209790870del	ClinVar
rs1307051774	p.Phe230Leu	missense variant	-	NC_000001.11:g.209790867A>G	gnomAD
rs757779208	p.Phe230Leu	missense variant	-	NC_000001.11:g.209790865A>C	ExAC,gnomAD
rs778658110	p.Arg233His	missense variant	-	NC_000001.11:g.209790857C>T	ExAC,TOPMed,gnomAD
rs747672901	p.Arg233Cys	missense variant	-	NC_000001.11:g.209790858G>A	ExAC,TOPMed,gnomAD
rs1403249714	p.Lys235Arg	missense variant	-	NC_000001.11:g.209790851T>C	gnomAD
rs1474008593	p.Gly238Arg	missense variant	-	NC_000001.11:g.209790843C>G	gnomAD
rs1474008593	p.Gly238Arg	missense variant	-	NC_000001.11:g.209790843C>T	gnomAD
COSM678792	p.Gln239Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209790840G>A	NCI-TCGA Cosmic
COSM678793	p.Gln239His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790838C>G	NCI-TCGA Cosmic
rs1019238353	p.Gln239Arg	missense variant	-	NC_000001.11:g.209790839T>C	TOPMed
rs766634450	p.Thr242Ile	missense variant	-	NC_000001.11:g.209790830G>A	ExAC,gnomAD
rs750893421	p.Val243Met	missense variant	-	NC_000001.11:g.209790828C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser244Gly	missense variant	-	NC_000001.11:g.209790825T>C	NCI-TCGA
rs1240112893	p.Pro246Ala	missense variant	-	NC_000001.11:g.209790819G>C	gnomAD
NCI-TCGA novel	p.Gln247Ter	stop gained	-	NC_000001.11:g.209790816G>A	NCI-TCGA
rs1553247774	p.Arg250Gln	missense variant	-	NC_000001.11:g.209790806C>T	-
rs1553247774	p.Arg250Gln	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209790806C>T	UniProt,dbSNP
VAR_014977	p.Arg250Gln	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209790806C>T	UniProt
NCI-TCGA novel	p.Arg250Leu	missense variant	-	NC_000001.11:g.209790806C>A	NCI-TCGA
RCV000544777	p.Arg250Gln	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209790806C>T	ClinVar
VAR_030053	p.Leu251Pro	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
NCI-TCGA novel	p.Phe252Ser	missense variant	-	NC_000001.11:g.209790800A>G	NCI-TCGA
rs1340604552	p.Asp255Tyr	missense variant	-	NC_000001.11:g.209790792C>A	TOPMed
rs1340604552	p.Asp255Asn	missense variant	-	NC_000001.11:g.209790792C>T	TOPMed
COSM5930574	p.Pro258Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790783G>A	NCI-TCGA Cosmic
rs1221008936	p.Met259Leu	missense variant	-	NC_000001.11:g.209790780T>A	TOPMed
rs145682768	p.Met259Ile	missense variant	-	NC_000001.11:g.209790778C>T	ESP,ExAC,TOPMed,gnomAD
rs201017955	p.Asp261Asn	missense variant	-	NC_000001.11:g.209790774C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201017955	p.Asp261His	missense variant	-	NC_000001.11:g.209790774C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3482924	p.Gln262Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209790771G>A	NCI-TCGA Cosmic
COSM3482923	p.Glu264Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790765C>T	NCI-TCGA Cosmic
COSM5629500	p.Leu265Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790762G>A	NCI-TCGA Cosmic
COSM903343	p.Pro268Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790752G>A	NCI-TCGA Cosmic
rs112435119	p.Val269Ile	missense variant	-	NC_000001.11:g.209790750C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1376908799	p.Ser270Gly	missense variant	-	NC_000001.11:g.209790747T>C	gnomAD
COSM3984682	p.Leu271Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790744G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu272Asp	missense variant	-	NC_000001.11:g.209790739C>A	NCI-TCGA
NCI-TCGA novel	p.Gln273His	missense variant	-	NC_000001.11:g.209790736C>A	NCI-TCGA
VAR_014978	p.Gln273Arg	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
RCV000253203	p.Val274Ile	missense variant	-	NC_000001.11:g.209790735C>T	ClinVar
NCI-TCGA novel	p.Val274Asp	missense variant	-	NC_000001.11:g.209790734A>T	NCI-TCGA
RCV000273414	p.Val274Ile	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209790735C>T	ClinVar
RCV000331862	p.Val274Ile	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000001.11:g.209790735C>T	ClinVar
rs2235371	p.Val274Ile	missense variant	-	NC_000001.11:g.209790735C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2235371	p.Val274Ile	missense variant	-	NC_000001.11:g.209790735C>T	UniProt,dbSNP
VAR_014979	p.Val274Ile	missense variant	-	NC_000001.11:g.209790735C>T	UniProt
RCV000356319	p.Val274Ile	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209790735C>T	ClinVar
rs1023837870	p.Pro277Leu	missense variant	-	NC_000001.11:g.209790725G>A	TOPMed
rs772155613	p.Gly278Ser	missense variant	-	NC_000001.11:g.209790723C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro279His	missense variant	-	NC_000001.11:g.209790719G>T	NCI-TCGA
rs1330128538	p.Pro279Thr	missense variant	-	NC_000001.11:g.209790720G>T	gnomAD
rs778531449	p.His281Arg	missense variant	-	NC_000001.11:g.209790713T>C	ExAC,gnomAD
rs778531449	p.His281Pro	missense variant	-	NC_000001.11:g.209790713T>G	ExAC,gnomAD
rs965770195	p.Asn284Thr	missense variant	-	NC_000001.11:g.209790704T>G	TOPMed,gnomAD
rs965770195	p.Asn284Ser	missense variant	-	NC_000001.11:g.209790704T>C	TOPMed,gnomAD
rs886039391	p.Gln287Ter	stop gained	-	NC_000001.11:g.209790696G>A	-
RCV000254748	p.Gln287Ter	nonsense	-	NC_000001.11:g.209790696G>A	ClinVar
VAR_014980	p.Phe290_Asp296delinsLeu	deletion_insertion	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
COSM903342	p.Lys293Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790676C>A	NCI-TCGA Cosmic
VAR_014981	p.Leu294Pro	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
rs1428576981	p.Leu295Met	missense variant	-	NC_000001.11:g.209790672G>T	TOPMed
COSM903341	p.Asp296Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790669C>T	NCI-TCGA Cosmic
RCV000640125	p.Val297Ile	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209790666C>T	ClinVar
rs1201366333	p.Val297Ala	missense variant	-	NC_000001.11:g.209790665A>G	gnomAD
rs779827384	p.Val297Phe	missense variant	-	NC_000001.11:g.209790666C>A	ExAC,gnomAD
rs779827384	p.Val297Ile	missense variant	-	NC_000001.11:g.209790666C>T	ExAC,gnomAD
VAR_014982	p.Val297Ile	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
COSM4027764	p.Met298Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790663T>C	NCI-TCGA Cosmic
COSM3482921	p.Arg300Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790656C>T	NCI-TCGA Cosmic
COSM3803765	p.Arg300Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790656C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly301Ter	stop gained	-	NC_000001.11:g.209790654C>A	NCI-TCGA
rs1064793154	p.Leu304Pro	missense variant	-	NC_000001.11:g.209790644A>G	-
RCV000729840	p.Leu304Pro	missense variant	-	NC_000001.11:g.209790644A>G	ClinVar
rs1260772491	p.Glu305Asp	missense variant	-	NC_000001.11:g.209790640C>A	gnomAD
rs1260772491	p.Glu305Asp	missense variant	-	NC_000001.11:g.209790640C>G	gnomAD
COSM1338522	p.Val306Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790639C>A	NCI-TCGA Cosmic
COSM3400272	p.Val306Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790639C>T	NCI-TCGA Cosmic
rs1177323711	p.Ser307Gly	missense variant	-	NC_000001.11:g.209790636T>C	TOPMed
rs145479239	p.Gly308Asp	missense variant	-	NC_000001.11:g.209790632C>T	ESP,ExAC,TOPMed,gnomAD
rs757794636	p.Ala310Thr	missense variant	-	NC_000001.11:g.209790627C>T	ExAC,gnomAD
rs752101883	p.Tyr312His	missense variant	-	NC_000001.11:g.209790621A>G	ExAC,gnomAD
COSM3482920	p.Ala313Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790617G>A	NCI-TCGA Cosmic
rs1275065450	p.Ile314Met	missense variant	-	NC_000001.11:g.209790613G>C	gnomAD
NCI-TCGA novel	p.Cys317Arg	missense variant	-	NC_000001.11:g.209790606A>G	NCI-TCGA
VAR_014983	p.Lys320Glu	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
rs752795859	p.Val321Ala	missense variant	-	NC_000001.11:g.209790593A>G	ExAC,gnomAD
VAR_014984	p.Val321Met	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
RCV000526414	p.Tyr322Asn	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209790591A>T	ClinVar
rs1553247754	p.Tyr322Asn	missense variant	-	NC_000001.11:g.209790591A>T	-
NCI-TCGA novel	p.Trp323Cys	missense variant	-	NC_000001.11:g.209790586C>A	NCI-TCGA
NCI-TCGA novel	p.Trp323Ser	missense variant	-	NC_000001.11:g.209790587C>G	NCI-TCGA
rs1327421106	p.Trp323Cys	missense variant	-	NC_000001.11:g.209790586C>G	TOPMed
rs940643100	p.Ser324Phe	missense variant	-	NC_000001.11:g.209790584G>A	TOPMed
VAR_014985	p.Gly325Glu	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
rs1174621537	p.Ala328Thr	missense variant	-	NC_000001.11:g.209790573C>T	gnomAD
rs1435979627	p.Pro329Ala	missense variant	-	NC_000001.11:g.209790570G>C	gnomAD
rs765508544	p.Leu331Pro	missense variant	-	NC_000001.11:g.209790563A>G	ExAC,TOPMed,gnomAD
rs139649287	p.Val332Ile	missense variant	-	NC_000001.11:g.209790561C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala333Ser	missense variant	-	NC_000001.11:g.209790558C>A	NCI-TCGA
rs772030925	p.Ala333Val	missense variant	-	NC_000001.11:g.209790557G>A	ExAC,gnomAD
rs773087829	p.Ala333Thr	missense variant	-	NC_000001.11:g.209790558C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn335His	missense variant	-	NC_000001.11:g.209790552T>G	NCI-TCGA
RCV000313325	p.Leu336Arg	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000001.11:g.209790548A>C	ClinVar
RCV000370290	p.Leu336Arg	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209790548A>C	ClinVar
RCV000392763	p.Leu336Arg	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209790548A>C	ClinVar
rs761816133	p.Leu336Arg	missense variant	-	NC_000001.11:g.209790548A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile337ThrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.209790538_209790545TCTCTCAA>-	NCI-TCGA
rs375104318	p.Glu338Asp	missense variant	-	NC_000001.11:g.209790541C>G	ESP,ExAC,gnomAD
COSM3482919	p.Arg339Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790539C>T	NCI-TCGA Cosmic
rs121434231	p.Arg339Ile	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209790539C>A	-
rs121434231	p.Arg339Ile	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209790539C>A	UniProt,dbSNP
VAR_059080	p.Arg339Ile	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209790539C>A	UniProt
RCV000003592	p.Arg339Ile	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209790539C>A	ClinVar
RCV000023627	p.Arg339Ile	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209790539C>A	ClinVar
rs1243774032	p.Gln340Leu	missense variant	-	NC_000001.11:g.209790536T>A	gnomAD
rs1197057646	p.Lys341Glu	missense variant	-	NC_000001.11:g.209790534T>C	TOPMed
rs1268089078	p.Lys344Glu	missense variant	-	NC_000001.11:g.209790525T>C	TOPMed
NCI-TCGA novel	p.Lys344Thr	missense variant	-	NC_000001.11:g.209790524T>G	NCI-TCGA
VAR_014986	p.Leu345Pro	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
VAR_014987	p.Cys347Phe	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
NCI-TCGA novel	p.Glu349Val	missense variant	-	NC_000001.11:g.209790509T>A	NCI-TCGA
VAR_030054	p.Glu349Val	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
rs1199593706	p.Thr350Ala	missense variant	-	NC_000001.11:g.209790507T>C	TOPMed
rs1224922793	p.Phe351Tyr	missense variant	-	NC_000001.11:g.209790503A>T	gnomAD
RCV000537580	p.Leu352Arg	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209790500A>C	ClinVar
rs1553247744	p.Leu352Arg	missense variant	-	NC_000001.11:g.209790500A>C	-
rs1330215471	p.Asp354Ala	missense variant	-	NC_000001.11:g.209789785T>G	TOPMed,gnomAD
rs200808685	p.Asp354Asn	missense variant	-	NC_000001.11:g.209790495C>T	ESP,ExAC,TOPMed,gnomAD
rs1383184626	p.Lys360Arg	missense variant	-	NC_000001.11:g.209789767T>C	TOPMed
NCI-TCGA novel	p.Gly361Ter	stop gained	-	NC_000001.11:g.209789765C>A	NCI-TCGA
rs745512689	p.Ile363Thr	missense variant	-	NC_000001.11:g.209789758A>G	ExAC,gnomAD
rs187015884	p.Ile363Met	missense variant	-	NC_000001.11:g.209789757T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu364Lys	missense variant	-	NC_000001.11:g.209789756C>T	NCI-TCGA
rs959068423	p.Gln366Glu	missense variant	-	NC_000001.11:g.209789750G>C	TOPMed,gnomAD
rs959068423	p.Gln366Lys	missense variant	-	NC_000001.11:g.209789750G>T	TOPMed,gnomAD
rs1467387507	p.Pro367Leu	missense variant	-	NC_000001.11:g.209789746G>A	gnomAD
rs373826137	p.Pro368Leu	missense variant	-	NC_000001.11:g.209789743G>A	ESP,ExAC,TOPMed,gnomAD
rs1162453694	p.Pro368Ser	missense variant	-	NC_000001.11:g.209789744G>A	gnomAD
rs1185412313	p.Phe369Ser	missense variant	-	NC_000001.11:g.209789740A>G	gnomAD
VAR_014989	p.Cys374Trp	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
RCV000003587	p.Trp379Ter	nonsense	Van der Woude syndrome (VWS1)	NC_000001.11:g.209789709C>T	ClinVar
rs121434228	p.Trp379Ter	stop gained	-	NC_000001.11:g.209789709C>T	-
NCI-TCGA novel	p.Pro384Ser	missense variant	-	NC_000001.11:g.209789696G>A	NCI-TCGA
rs1263363517	p.Pro384Leu	missense variant	-	NC_000001.11:g.209789695G>A	gnomAD
rs960479688	p.Pro384Thr	missense variant	-	NC_000001.11:g.209789696G>T	TOPMed
rs542258348	p.Arg387Lys	missense variant	-	NC_000001.11:g.209789686C>T	1000Genomes,ExAC,TOPMed,gnomAD
VAR_014990	p.Lys388Glu	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
rs141653312	p.Leu391Phe	missense variant	-	NC_000001.11:g.209789673C>A	ESP,ExAC,TOPMed,gnomAD
RCV000677189	p.Leu391Phe	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209789673C>A	ClinVar
rs1553247688	p.Val392Gly	missense variant	-	NC_000001.11:g.209789671A>C	-
RCV000677190	p.Val392Gly	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209789671A>C	ClinVar
rs766717077	p.Gln393Arg	missense variant	-	NC_000001.11:g.209789668T>C	ExAC,gnomAD
RCV000003582	p.Gln393Ter	nonsense	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209789669G>A	ClinVar
rs121434225	p.Gln393Ter	stop gained	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209789669G>A	-
rs1353644145	p.Ile395Leu	missense variant	-	NC_000001.11:g.209788641T>G	gnomAD
rs121434230	p.Pro396Ser	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209788638G>A	UniProt,dbSNP
VAR_030055	p.Pro396Ser	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209788638G>A	UniProt
rs121434230	p.Pro396Ser	missense variant	-	NC_000001.11:g.209788638G>A	-
RCV000003591	p.Pro396Ser	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788638G>A	ClinVar
NCI-TCGA novel	p.Ala399Thr	missense variant	-	NC_000001.11:g.209788629C>T	NCI-TCGA
RCV000531368	p.Ala399Ter	frameshift	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788630del	ClinVar
RCV000003588	p.Arg400Trp	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788626G>A	ClinVar
rs200166664	p.Arg400Pro	missense variant	-	NC_000001.11:g.209788625C>G	ExAC,gnomAD
rs200166664	p.Arg400Gln	missense variant	-	NC_000001.11:g.209788625C>T	ExAC,gnomAD
rs28942095	p.Arg400Trp	missense variant	-	NC_000001.11:g.209788626G>A	-
rs28942095	p.Arg400Trp	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209788626G>A	UniProt,dbSNP
VAR_030056	p.Arg400Trp	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209788626G>A	UniProt
rs200166664	p.Arg400Leu	missense variant	-	NC_000001.11:g.209788625C>A	ExAC,gnomAD
RCV000087748	p.Arg400Gln	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788625C>T	ClinVar
rs750716170	p.Met401Val	missense variant	-	NC_000001.11:g.209788623T>C	ExAC,gnomAD
rs752676152	p.Met401Lys	missense variant	-	NC_000001.11:g.209788622A>T	ExAC,gnomAD
rs752676152	p.Met401Thr	missense variant	-	NC_000001.11:g.209788622A>G	ExAC,gnomAD
rs752676152	p.Met401Arg	missense variant	-	NC_000001.11:g.209788622A>C	ExAC,gnomAD
rs750716170	p.Met401Leu	missense variant	-	NC_000001.11:g.209788623T>G	ExAC,gnomAD
rs753375962	p.Ile402Thr	missense variant	-	NC_000001.11:g.209788619A>G	ExAC
rs567184317	p.Ile402Phe	missense variant	-	NC_000001.11:g.209788620T>A	ExAC
rs753375962	p.Ile402Ser	missense variant	-	NC_000001.11:g.209788619A>C	ExAC
rs567184317	p.Ile402Val	missense variant	-	NC_000001.11:g.209788620T>C	ExAC
rs772477688	p.Tyr403Phe	missense variant	-	NC_000001.11:g.209788616T>A	ExAC
rs772477688	p.Tyr403Ser	missense variant	-	NC_000001.11:g.209788616T>G	ExAC
NCI-TCGA novel	p.Tyr403Cys	missense variant	-	NC_000001.11:g.209788616T>C	NCI-TCGA
rs760295959	p.Tyr403Asp	missense variant	-	NC_000001.11:g.209788617A>C	ExAC
rs774866638	p.Tyr403Ter	stop gained	-	NC_000001.11:g.209788615G>T	ExAC,TOPMed,gnomAD
RCV000550066	p.Glu404Lys	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209788614C>T	ClinVar
rs769068305	p.Glu404Lys	missense variant	-	NC_000001.11:g.209788614C>T	ExAC
rs769068305	p.Glu404Gln	missense variant	-	NC_000001.11:g.209788614C>G	ExAC
RCV000426709	p.Gly408Ter	frameshift	-	NC_000001.11:g.209788598_209788607del	ClinVar
rs1397966250	p.Phe410Ile	missense variant	-	NC_000001.11:g.209788596A>T	gnomAD
RCV000684776	p.Arg412Ter	nonsense	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788590G>A	ClinVar
RCV000556227	p.Arg412Ter	nonsense	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788590G>A	ClinVar
rs1412251145	p.Arg412Gln	missense variant	-	NC_000001.11:g.209788589C>T	gnomAD
rs1553247595	p.Arg412Ter	stop gained	-	NC_000001.11:g.209788590G>A	-
rs1156568671	p.Ser416Asn	missense variant	-	NC_000001.11:g.209788577C>T	TOPMed
rs780250794	p.Gly417Val	missense variant	-	NC_000001.11:g.209788574C>A	ExAC,gnomAD
rs115777201	p.Arg420His	missense variant	-	NC_000001.11:g.209788565C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770043363	p.Arg420Cys	missense variant	-	NC_000001.11:g.209788566G>A	ExAC,TOPMed,gnomAD
rs1553247592	p.Ile423Ser	missense variant	-	NC_000001.11:g.209788556A>C	-
RCV000557916	p.Ile423Ser	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209788556A>C	ClinVar
RCV000023631	p.Ser424Leu	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209788553G>A	ClinVar
rs387906968	p.Ser424Leu	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209788553G>A	UniProt,dbSNP
VAR_064476	p.Ser424Leu	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209788553G>A	UniProt
rs387906968	p.Ser424Leu	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209788553G>A	-
NCI-TCGA novel	p.Pro426SerPheSerTerUnk	frameshift	-	NC_000001.11:g.209788543_209788549GTCTGGG>-	NCI-TCGA
NCI-TCGA novel	p.Asp427Tyr	missense variant	-	NC_000001.11:g.209788545C>A	NCI-TCGA
rs781337512	p.Lys429Asn	missense variant	-	NC_000001.11:g.209788537C>G	ExAC,TOPMed,gnomAD
VAR_014991	p.Asp430Asn	Missense	Popliteal pterygium syndrome (PPS) [MIM:119500]	-	UniProt
rs1413709711	p.Asn431Asp	missense variant	-	NC_000001.11:g.209788533T>C	gnomAD
rs758153743	p.Asn431Ser	missense variant	-	NC_000001.11:g.209788532T>C	ExAC,gnomAD
COSM4833019	p.Ile432Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209788528G>C	NCI-TCGA Cosmic
rs752456527	p.Ile432Thr	missense variant	-	NC_000001.11:g.209788529A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val433Ile	missense variant	-	NC_000001.11:g.209788527C>T	NCI-TCGA
rs1293034854	p.Val433Ala	missense variant	-	NC_000001.11:g.209788526A>G	TOPMed
rs1368495772	p.Ala434Thr	missense variant	-	NC_000001.11:g.209788524C>T	TOPMed
rs1443422415	p.Leu436Val	missense variant	-	NC_000001.11:g.209788518G>C	TOPMed
rs1064793155	p.Gln438Ter	stop gained	-	NC_000001.11:g.209788512G>A	-
rs753818978	p.Gln438Leu	missense variant	-	NC_000001.11:g.209788511T>A	ExAC,TOPMed,gnomAD
RCV000483423	p.Gln438Ter	nonsense	-	NC_000001.11:g.209788512G>A	ClinVar
RCV000707591	p.Gln438Ter	frameshift	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209788503_209788513del	ClinVar
rs753818978	p.Gln438Pro	missense variant	-	NC_000001.11:g.209788511T>G	ExAC,TOPMed,gnomAD
rs886038202	p.Leu439Pro	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209788508A>G	-
RCV000241540	p.Leu439Pro	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209788508A>G	ClinVar
rs1286939391	p.Leu439Val	missense variant	-	NC_000001.11:g.209788509G>C	TOPMed
rs202031475	p.Tyr440His	missense variant	-	NC_000001.11:g.209788506A>G	ExAC,gnomAD
rs1234188725	p.Arg441Cys	missense variant	-	NC_000001.11:g.209788503G>A	TOPMed,gnomAD
rs750021967	p.Arg441Leu	missense variant	-	NC_000001.11:g.209788502C>A	ExAC,gnomAD
rs750021967	p.Arg441His	missense variant	-	NC_000001.11:g.209788502C>T	ExAC,gnomAD
rs767093199	p.Leu443Phe	missense variant	-	NC_000001.11:g.209788497G>A	ExAC,gnomAD
rs762190983	p.Gln450His	missense variant	-	NC_000001.11:g.209788474C>A	ExAC,TOPMed,gnomAD
COSM3482915	p.Pro451Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209788472G>A	NCI-TCGA Cosmic
rs774613873	p.Met452Ile	missense variant	-	NC_000001.11:g.209788468C>T	ExAC,TOPMed
rs763532645	p.Pro454Ser	missense variant	-	NC_000001.11:g.209788464G>A	ExAC,gnomAD
rs769992079	p.Pro456Ser	missense variant	-	NC_000001.11:g.209788458G>A	ExAC,gnomAD
rs769992079	p.Pro456Ala	missense variant	-	NC_000001.11:g.209788458G>C	ExAC,gnomAD
rs1469909632	p.Pro456Leu	missense variant	-	NC_000001.11:g.209788457G>A	TOPMed,gnomAD
RCV000640128	p.Ser457Ter	frameshift	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209788460del	ClinVar
NCI-TCGA novel	p.Ser457AlaPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.209788456G>-	NCI-TCGA
rs745948584	p.Gln459Glu	missense variant	-	NC_000001.11:g.209788449G>C	ExAC,gnomAD
rs1411467091	p.Leu460Met	missense variant	-	NC_000001.11:g.209788446G>T	TOPMed
rs1404701973	p.Pro461Ser	missense variant	-	NC_000001.11:g.209788443G>A	TOPMed
NCI-TCGA novel	p.Pro461Leu	missense variant	-	NC_000001.11:g.209788442G>A	NCI-TCGA
COSM4693031	p.Pro462LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209788439G>-	NCI-TCGA Cosmic
RCV000283529	p.Ala463Val	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000001.11:g.209788436G>A	ClinVar
RCV000396623	p.Ala463Val	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788436G>A	ClinVar
RCV000340984	p.Ala463Val	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209788436G>A	ClinVar
rs886045883	p.Ala463Val	missense variant	-	NC_000001.11:g.209788436G>A	TOPMed,gnomAD
COSM3864370	p.Pro466Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209788427G>A	NCI-TCGA Cosmic
rs1195873569	p.Gln467Arg	missense variant	-	NC_000001.11:g.209788424T>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0000846	Agenesis	disease	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0002726	Amyloidosis	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003886	Arthrogryposis	disease	GENOMICS_ENGLAND
C0004153	Atherosclerosis	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007113	Rectal Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0008924	Cleft upper lip	disease	BEFREE;CTD_human;GWASCAT;GWASDB;HPO;LHGDN;ORPHANET
C0008925	Cleft Palate	disease	BEFREE;CTD_human;LHGDN
C0009081	Congenital clubfoot	disease	HPO
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0010346	Crohn Disease	disease	BEFREE;GWASCAT
C0010417	Cryptorchidism	disease	HPO
C0010674	Cystic Fibrosis	disease	BEFREE
C0018378	Guillain-Barre Syndrome	disease	BEFREE
C0020473	Hyperlipidemia	disease	BEFREE
C0020608	Hypodontia	disease	BEFREE;HPO;ORPHANET
C0021390	Inflammatory Bowel Diseases	group	GWASCAT
C0025990	Micrognathism	disease	HPO
C0027051	Myocardial Infarction	disease	BEFREE
C0027339	Nail Diseases	group	HPO
C0030920	Peptic Ulcer	disease	BEFREE
C0032002	Pituitary Diseases	group	BEFREE
C0032285	Pneumonia	disease	BEFREE
C0033999	Pterygium	disease	BEFREE;LHGDN
C0037268	Skin Abnormalities	group	CTD_human
C0037932	Curvature of spine	phenotype	HPO
C0041296	Tuberculosis	disease	BEFREE
C0080174	Spina Bifida Occulta	disease	HPO
C0158646	Cleft palate with cleft lip	disease	BEFREE;ORPHANET
C0162298	Joint stiffness	phenotype	HPO
C0175697	Van der Woude syndrome	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0206762	Limb Deformities, Congenital	group	CTD_human
C0221352	Syndactyly of fingers	disease	HPO
C0240310	Hypoplasia of the maxilla	disease	HPO
C0240340	Microdontia (disorder)	disease	HPO
C0265259	Popliteal pterygium syndrome	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0265261	Multiple pterygium syndrome	disease	BEFREE
C0265660	Syndactyly of the toes	disease	HPO
C0266122	Cleft uvula	disease	HPO
C0266399	Infantile uterus	disease	HPO
C0339182	Ankyloblepharon	phenotype	HPO
C0341059	Lip pit	phenotype	BEFREE;HPO
C0341787	Bifid scrotum	disease	HPO
C0342381	Idiopathic growth hormone deficiency	disease	BEFREE
C0344975	Pulmonary Atresia with Intact Ventricular Septum	disease	BEFREE
C0345309	Hypoplasia of vagina	disease	HPO
C0376524	Branchio-Oculo-Facial Syndrome	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0431659	Hypoplasia of scrotum	phenotype	HPO
C0497327	Dementia	disease	HPO
C0566899	Small labia majora	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0685787	Cleft face	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0751748	Nonketotic Hyperglycinemia	disease	HPO
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C0853087	Nail abnormality	phenotype	HPO
C1096582	Campylobacter jejuni infection	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1298692	Cleft lip and alveolus	disease	ORPHANET
C1302999	Ankyloblepharon filiforme adnatum	disease	HPO
C1442988	Rudimentary vagina	disease	HPO
C1456687	Polio and Post-Polio Syndrome	disease	BEFREE
C1519346	Skin Carcinogenesis	disease	BEFREE
C1834339	Myopathy, Actin, Congenital, with Excess of Thin Myofilaments	disease	MGD
C1837213	OROFACIAL CLEFT 6, SUSCEPTIBILITY TO	disease	CLINVAR;CTD_human;UNIPROT
C1837217	Cleft lip, isolated	disease	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE;CTD_human
C1839730	Prieto X-linked mental retardation syndrome	disease	BEFREE
C1842083	Abnormality of the ribs	phenotype	HPO
C1849211	Generalized hirsutism	phenotype	HPO
C1849718	POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE	disease	BEFREE
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1861537	OROFACIAL CLEFT 1	disease	BEFREE
C1861544	Lower lip pit	phenotype	HPO
C1865017	Thin upper lip vermilion	phenotype	HPO
C1956346	Coronary Artery Disease	disease	BEFREE
C2240378	cleft palate on exam	phenotype	CLINVAR
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO
C3241937	Nonalcoholic Steatohepatitis	disease	BEFREE
C3266076	Orofacial cleft	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3805420	Popliteal pterygium	phenotype	HPO
C3810471	Intercrural pterygium	phenotype	HPO
C4021020	Non-midline cleft lip	disease	HPO
C4021254	Cutaneous finger syndactyly	disease	HPO
C4021392	Fibrous syngnathia	phenotype	HPO
C4024212	Pyramidal skinfold extending from the base to the top of the nails	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4082304	Oligodontia	disease	HPO;ORPHANET
C4082937	Necrotizing enterocolitis in fetus OR newborn	disease	BEFREE
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO
C4280619	Missing more than six teeth	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0003677	DNA binding	ISS
GO:0003700	DNA-binding transcription factor activity	ISS
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IDA
GO:0044212	transcription regulatory region DNA binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002376	immune system process	IBA
GO:0007050	cell cycle arrest	IDA
GO:0008285	negative regulation of cell population proliferation	IDA
GO:0030216	keratinocyte differentiation	IEA
GO:0043616	keratinocyte proliferation	IEA
GO:0045893	positive regulation of transcription, DNA-templated	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0048468	cell development	IEA
GO:0060021	roof of mouth development	IEA
GO:0060333	interferon-gamma-mediated signaling pathway	TAS
GO:0060337	type I interferon signaling pathway	TAS
GO:0060644	mammary gland epithelial cell differentiation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0030054	cell junction	IDA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-168256	Immune System	TAS
R-HSA-877300	Interferon gamma signaling	TAS
R-HSA-909733	Interferon alpha/beta signaling	TAS
R-HSA-913531	Interferon Signaling	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of IRF6 mRNA	29432896
C029790	2,2',3',4,4',5-hexachlorobiphenyl	2,2',3',4,4',5-hexachlorobiphenyl results in decreased expression of IRF6 mRNA	23829299
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the expression of IRF6 mRNA	19414516
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the reaction [Cyclic AMP affects the expression of IRF6 mRNA]	19414516
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the reaction [FSHB protein affects the expression of IRF6 mRNA]	19414516
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of IRF6 mRNA	19167446
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of IRF6 mRNA	21346803
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in decreased expression of IRF6 mRNA	25088246
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of IRF6 mRNA	18648102
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 IRF6 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 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 IRF6 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 IRF6 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 IRF6 mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in decreased expression of IRF6 mRNA	26690555; 29067470;
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of IRF6 mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of IRF6 mRNA]	17585979
D020106	Acrylamide	Acrylamide results in increased expression of IRF6 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of IRF6 mRNA	19770486
D000661	Amphetamine	Amphetamine results in decreased expression of IRF6 mRNA	30779732
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of IRF6 mRNA	24449571
D000077237	Arsenic Trioxide	IRF6 protein results in decreased susceptibility to Arsenic Trioxide	20707922
D001280	Atrazine	Atrazine results in increased expression of IRF6 mRNA	25929836
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of IRF6 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of IRF6 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased methylation of IRF6 promoter	27312807
C006780	bisphenol A	bisphenol A affects the expression of IRF6 mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of IRF6 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased methylation of IRF6 gene	28505145
C000611646	bisphenol F	bisphenol F results in increased expression of IRF6 mRNA	30951980
D002104	Cadmium	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of IRF6 mRNA	29741670
D019256	Cadmium Chloride	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of IRF6 mRNA	29741670
D002117	Calcitriol	Calcitriol results in increased expression of IRF6 mRNA	26485663
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of IRF6 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of IRF6 mRNA]	17585979
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of IRF6 mRNA	19167446
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of IRF6 mRNA	19167446
D003375	Coumestrol	Coumestrol results in decreased expression of IRF6 mRNA	19167446
D003471	Cuprizone	Cuprizone results in increased expression of IRF6 mRNA	26577399
D000242	Cyclic AMP	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the reaction [Cyclic AMP affects the expression of IRF6 mRNA]	19414516
D016572	Cyclosporine	Cyclosporine results in decreased expression of IRF6 mRNA	20106945
C093628	cyproconazole	cyproconazole results in increased expression of IRF6 mRNA	22664269
D000077209	Decitabine	Decitabine results in decreased expression of IRF6 mRNA	27915011
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of IRF6 mRNA	21266533
D004041	Dietary Fats	Dietary Fats results in decreased expression of IRF6 mRNA	30120929
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of IRF6 mRNA	31163220
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of IRF6 mRNA	19850644
D004051	Diethylhexyl Phthalate	PPARA protein inhibits the reaction [Diethylhexyl Phthalate results in increased expression of IRF6 mRNA]	19850644
D004147	Dioxins	Dioxins affects the expression of IRF6 mRNA	20463971
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 IRF6 mRNA	27188386
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 IRF6 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 IRF6 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 IRF6 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of IRF6 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of IRF6 mRNA	29391264
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in increased expression of IRF6 mRNA	29464035
D004958	Estradiol	Estradiol results in decreased expression of IRF6 mRNA	20106945
D004958	Estradiol	Estradiol results in increased expression of IRF6 mRNA	19484750
D004958	Estradiol	Estradiol results in decreased expression of IRF6 mRNA	14664709
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of IRF6 mRNA	29458080
D017313	Fenretinide	Fenretinide results in increased expression of IRF6 mRNA	28973697
C061365	flusilazole	flusilazole results in increased expression of IRF6 mRNA	22664269; 28263823;
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of IRF6 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of IRF6 mRNA	29432896
C007836	geraniol	geraniol results in increased expression of IRF6 mRNA	27683099
D005897	Glafenine	Glafenine results in decreased expression of IRF6 mRNA	24136188
D007213	Indomethacin	Indomethacin results in decreased expression of IRF6 mRNA	28201806
D007657	Ketone Bodies	Ketone Bodies results in decreased expression of IRF6 mRNA	16807920
D019344	Lactic Acid	Lactic Acid results in increased expression of IRF6 mRNA	30851411
C018091	maduramicin	maduramicin results in increased expression of IRF6 mRNA	29128925
D008727	Methotrexate	IRF6 protein affects the susceptibility to Methotrexate	16217747
D008727	Methotrexate	Methotrexate affects the expression of IRF6 mRNA	18502557
D008752	Methylene Chloride	Methylene Chloride results in decreased expression of IRF6 mRNA	28392392
C030589	methylmercury cysteine	methylmercury cysteine results in decreased expression of IRF6 mRNA	19465457
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of IRF6 mRNA	26924002
D009151	Mustard Gas	Mustard Gas results in increased expression of IRF6 mRNA	25102026
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 decreased expression of IRF6 mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of IRF6 mRNA	25620056
C051752	nefazodone	nefazodone results in decreased expression of IRF6 mRNA	24136188
C012655	nimesulide	nimesulide results in decreased expression of IRF6 mRNA	24136188
D010126	Ozone	Ozone results in decreased expression of IRF6 mRNA	16183385
D010126	Ozone	[Water Pollutants, Chemical co-treated with Ozone] results in increased expression of IRF6 mRNA	23246600
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 IRF6 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of IRF6 mRNA	26272509
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of IRF6 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of IRF6 mRNA	29432896
D052638	Particulate Matter	[IRF6 gene mutant form affects the susceptibility to Particulate Matter] which results in decreased expression of IRF6 mRNA	21222557; 21222557;
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of IRF6 mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in decreased expression of IRF6 mRNA	19270015; 19482888;
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 IRF6 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of IRF6 mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of IRF6 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of IRF6 mRNA	18445702
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of IRF6 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of IRF6 mRNA	29432896
D011374	Progesterone	Progesterone results in increased expression of IRF6 mRNA	23018184
D011374	Progesterone	Progesterone results in increased expression of IRF6 mRNA	20864642
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of IRF6 mRNA	24780913
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of IRF6 mRNA	19167446
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of IRF6 mRNA	21427059
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of IRF6 mRNA	23806026
D012906	Smoke	Smoke results in decreased expression of IRF6 mRNA	21095227
C009277	sodium arsenate	sodium arsenate results in increased expression of IRF6 mRNA	23922661
C009277	sodium arsenate	sodium arsenate results in increased expression of IRF6 mRNA	30953684
D013629	Tamoxifen	Tamoxifen affects the expression of IRF6 mRNA	20937368
C087114	tebuconazole	tebuconazole results in decreased expression of IRF6 mRNA	30458266
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of IRF6 mRNA	21570461; 24058054;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of IRF6 mRNA	17586704
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of IRF6 mRNA	18796159
D014212	Tretinoin	Tretinoin results in decreased expression of IRF6 mRNA	23724009
D014212	Tretinoin	Tretinoin results in increased expression of IRF6 mRNA	20488242
C032910	triadimefon	triadimefon results in increased expression of IRF6 mRNA	22664269
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 IRF6 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of IRF6 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 IRF6 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased methylation of IRF6 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of IRF6 mRNA	23179753; 24383497; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of IRF6 mRNA	21427059
D001335	Vehicle Emissions	[IRF6 gene mutant form affects the susceptibility to Vehicle Emissions] which results in decreased expression of IRF6 mRNA	21222557; 21222557;
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical results in increased expression of IRF6 mRNA	22899542
D014874	Water Pollutants, Chemical	[Water Pollutants, Chemical co-treated with Ozone] results in increased expression of IRF6 mRNA	23246600

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR019817	Interferon_reg_fac_CS
IPR001346	Interferon_reg_fact_DNA-bd_dom
IPR019471	Interferon_reg_factor-3
IPR017855	SMAD-like_dom_sf
IPR008984	SMAD_FHA_dom_sf
IPR036388	WH-like_DNA-bd_sf
IPR036390	WH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS00601	IRF_1
PS51507	IRF_2

Pfam

Pfam ID	Pfam Term
PF00605	IRF
PF10401	IRF-3

Gene: IRF6

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