CleftGeneDB-Search

Gene: FOXE1

Basic information

Tag	Content
Uniprot ID	O00358; O75765; Q5T109; Q99526;
Entrez ID	2304
Genbank protein ID	CAA73816.1; AAC51294.1; CAA64246.1; EAW58856.1;
Genbank nucleotide ID	NM_004473.3
Ensembl protein ID	ENSP00000364265
Ensembl nucleotide ID	ENSG00000178919
Gene name	Forkhead box protein E1
Gene symbol	FOXE1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	21462296; 19779022; 24563486; 26100861; 24252547; 26728781;
Functional description	Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression.
Sequence	MTAESGPPPP QPEVLATVKE ERGETAAGAG VPGEATGRGA GGRRRKRPLQ RGKPPYSYIA 60 LIAMAIAHAP ERRLTLGGIY KFITERFPFY RDNPKKWQNS IRHNLTLNDC FLKIPREAGR 120 PGKGNYWALD PNAEDMFESG SFLRRRKRFK RSDLSTYPAY MHDAAAAAAA AAAAAAAAAI 180 FPGAVPAARP PYPGAVYAGY APPSLAAPPP VYYPAASPGP CRVFGLVPER PLSPELGPAP 240 SGPGGSCAFA SAGAPATTTG YQPAGCTGAR PANPSAYAAA YAGPDGAYPQ GAGSAIFAAA 300 GRLAGPASPP AGGSSGGVET TVDFYGRTSP GQFGALGACY NPGGQLGGAS AGAYHARHAA 360 AYPGGIDRFV SAM 373

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	FOXE1	616734	F1ME54		Bos taurus	Prediction	More>>
1:1 ortholog	FOXE1	106502413	A0A452DS04		Capra hircus	Prediction	More>>
1:1 ortholog	FOXE1	2304	O00358	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Foxe1	110805	Q8R2I0	CPO	Mus musculus	Publication	More>>
1:1 ortholog	FOXE1	100610790	H2R467		Pan troglodytes	Prediction	More>>
1:1 ortholog	FOXE1	100157892	F1SSG9		Sus scrofa	Prediction	More>>
1:1 ortholog	Foxe1	192274	O08771		Rattus norvegicus	Prediction	More>>
1:1 ortholog	foxe1		R4GEW1		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
FOXE1	rs1867277	high-resolution melting curve method or Sequenom MassARRAY method	29509083
FOXE1	rs894673A>T	GWAS and TDT	33165418
FOXE1	rs3758249T>C	GWAS and TDT	33165418
FOXE1	rs7860144G>A (decrease risk)	Genotyping	21462296
FOXE1	rs874004C>G	Genotyping	21462296
FOXE1	rs973473G>T	Genotyping	21462296
FOXE1	rs10217225C>T (increase risk)	meta analysis	31944555
FOXE1	rs4460498C>T (protective)	meta analysis	31944555
FOXE1	rs7043516	Genotyping was performed with double ligation and multiplex fluorescence PCR	26728781
FOXE1	rs4460498	Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP)	26100861
FOXE1	rs3758249	Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP)	26100861
FOXE1	rs4460498	Genotyping	24563486
FOXE1	rs3758249	Genotyping	24563486
FOXE1	rs3758249	fine mapping strategy	19779022
FOXE1	rs4460498	fine mapping strategy	19779022
FOXE1	c.274G>T	PCR-RFLP	24252547
FOXE1	c.569C>G	PCR-RFLP	24252547
FOXE1	c.569C>T	PCR-RFLP	24252547
FOXE1	c.664C>T	PCR-RFLP	24252547
FOXE1	c.1090G>A	PCR-RFLP	24252547
FOXE1	c.572C>G	PCR-RFLP	24252547

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1219555747	p.Glu4Lys	missense variant	-	NC_000009.12:g.97853924G>A	gnomAD
rs1053172791	p.Gly6Val	missense variant	-	NC_000009.12:g.97853931G>T	TOPMed
rs944496563	p.Gly6Trp	missense variant	-	NC_000009.12:g.97853930G>T	TOPMed
rs1053172791	p.Gly6Glu	missense variant	-	NC_000009.12:g.97853931G>A	TOPMed
rs974791592	p.Pro7Leu	missense variant	-	NC_000009.12:g.97853934C>T	TOPMed
rs1418050237	p.Pro10Arg	missense variant	-	NC_000009.12:g.97853943C>G	TOPMed,gnomAD
rs1418050237	p.Pro10Leu	missense variant	-	NC_000009.12:g.97853943C>T	TOPMed,gnomAD
rs1022277405	p.Pro12Ser	missense variant	-	NC_000009.12:g.97853948C>T	TOPMed
rs1345434944	p.Val14Met	missense variant	-	NC_000009.12:g.97853954G>A	TOPMed
rs930856361	p.Leu15Gln	missense variant	-	NC_000009.12:g.97853958T>A	gnomAD
rs1002081447	p.Thr17Ile	missense variant	-	NC_000009.12:g.97853964C>T	TOPMed
rs1457834748	p.Val18Met	missense variant	-	NC_000009.12:g.97853966G>A	gnomAD
rs1362855105	p.Glu21Gln	missense variant	-	NC_000009.12:g.97853975G>C	TOPMed,gnomAD
rs886732503	p.Arg22Gly	missense variant	-	NC_000009.12:g.97853978C>G	TOPMed
rs886732503	p.Arg22Cys	missense variant	-	NC_000009.12:g.97853978C>T	TOPMed
rs1398481804	p.Thr25Met	missense variant	-	NC_000009.12:g.97853988C>T	gnomAD
rs940833635	p.Ala26Thr	missense variant	-	NC_000009.12:g.97853990G>A	gnomAD
rs940833635	p.Ala26Ser	missense variant	-	NC_000009.12:g.97853990G>T	gnomAD
rs908320588	p.Gly30Arg	missense variant	-	NC_000009.12:g.97854002G>A	TOPMed,gnomAD
rs961011556	p.Pro32Leu	missense variant	-	NC_000009.12:g.97854009C>T	TOPMed
rs554583478	p.Thr36Arg	missense variant	-	NC_000009.12:g.97854021C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs554583478	p.Thr36Met	missense variant	-	NC_000009.12:g.97854021C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1287989288	p.Arg38His	missense variant	-	NC_000009.12:g.97854027G>A	gnomAD
rs1299034539	p.Ala40Val	missense variant	-	NC_000009.12:g.97854033C>T	TOPMed
rs752273041	p.Ala40Thr	missense variant	-	NC_000009.12:g.97854032G>A	ExAC,TOPMed,gnomAD
rs1179653570	p.Gly41Cys	missense variant	-	NC_000009.12:g.97854035G>T	TOPMed,gnomAD
rs1179653570	p.Gly41Ser	missense variant	-	NC_000009.12:g.97854035G>A	TOPMed,gnomAD
rs1419086662	p.Gly42Glu	missense variant	-	NC_000009.12:g.97854039G>A	gnomAD
rs1412441815	p.Gly42Trp	missense variant	-	NC_000009.12:g.97854038G>T	gnomAD
rs753617832	p.Arg43Leu	missense variant	-	NC_000009.12:g.97854042G>T	ExAC,gnomAD
rs1382651609	p.Arg43Gly	missense variant	-	NC_000009.12:g.97854041C>G	TOPMed,gnomAD
rs1359786027	p.Arg45His	missense variant	-	NC_000009.12:g.97854048G>A	TOPMed,gnomAD
rs1359786027	p.Arg45Leu	missense variant	-	NC_000009.12:g.97854048G>T	TOPMed,gnomAD
rs1359786027	p.Arg45His	missense variant	-	NC_000009.12:g.97854048G>A	NCI-TCGA
rs756989173	p.Arg47Cys	missense variant	-	NC_000009.12:g.97854053C>T	ExAC,gnomAD
rs1374194773	p.Pro48Ala	missense variant	-	NC_000009.12:g.97854056C>G	TOPMed
rs778685558	p.Pro48Leu	missense variant	-	NC_000009.12:g.97854057C>T	ExAC
rs750321507	p.Gln50Pro	missense variant	-	NC_000009.12:g.97854063A>C	ExAC,gnomAD
rs781113383	p.Arg51Gly	missense variant	-	NC_000009.12:g.97854065C>G	ExAC,gnomAD
rs781113383	p.Arg51Cys	missense variant	-	NC_000009.12:g.97854065C>T	ExAC,gnomAD
rs1429237743	p.Gly52Arg	missense variant	-	NC_000009.12:g.97854068G>C	TOPMed
rs748304632	p.Lys53Gln	missense variant	-	NC_000009.12:g.97854071A>C	ExAC,gnomAD
rs1351358930	p.Pro54Ser	missense variant	-	NC_000009.12:g.97854074C>T	gnomAD
RCV000007403	p.Ser57Asn	missense variant	Bamforth syndrome	NC_000009.12:g.97854084G>A	ClinVar
rs28937575	p.Ser57Asn	missense variant	-	NC_000009.12:g.97854084G>A	-
rs28937575	p.Ser57Asn	missense variant	Bamforth-Lazarus syndrome (BLS)	NC_000009.12:g.97854084G>A	UniProt,dbSNP
VAR_016882	p.Ser57Asn	missense variant	Bamforth-Lazarus syndrome (BLS)	NC_000009.12:g.97854084G>A	UniProt
NCI-TCGA novel	p.Tyr58Ter	stop gained	-	NC_000009.12:g.97854088C>A	NCI-TCGA
rs1185055675	p.Ala60Thr	missense variant	-	NC_000009.12:g.97854092G>A	TOPMed
rs567993682	p.Met64Val	missense variant	-	NC_000009.12:g.97854104A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs567993682	p.Met64Leu	missense variant	-	NC_000009.12:g.97854104A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs772682082	p.Met64Arg	missense variant	-	NC_000009.12:g.97854105T>G	ExAC,gnomAD
rs567993682	p.Met64Leu	missense variant	-	NC_000009.12:g.97854104A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs104894110	p.Ala65Val	missense variant	Bamforth-Lazarus syndrome (BLS)	NC_000009.12:g.97854108C>T	UniProt,dbSNP
VAR_008857	p.Ala65Val	missense variant	Bamforth-Lazarus syndrome (BLS)	NC_000009.12:g.97854108C>T	UniProt
rs104894110	p.Ala65Val	missense variant	-	NC_000009.12:g.97854108C>T	ExAC,gnomAD
RCV000007402	p.Ala65Val	missense variant	Bamforth syndrome	NC_000009.12:g.97854108C>T	ClinVar
rs1438362739	p.Ala67Thr	missense variant	-	NC_000009.12:g.97854113G>A	TOPMed,gnomAD
rs999295917	p.Ala67Gly	missense variant	-	NC_000009.12:g.97854114C>G	TOPMed,gnomAD
rs1416452979	p.His68Gln	missense variant	-	NC_000009.12:g.97854118C>A	gnomAD
NCI-TCGA novel	p.His68Gln	missense variant	-	NC_000009.12:g.97854118C>G	NCI-TCGA
rs1174239223	p.Ala69Thr	missense variant	-	NC_000009.12:g.97854119G>A	TOPMed,gnomAD
rs753424854	p.Pro70Ser	missense variant	-	NC_000009.12:g.97854122C>T	NCI-TCGA
rs753424854	p.Pro70Ser	missense variant	-	NC_000009.12:g.97854122C>T	ExAC,gnomAD
rs764965228	p.Glu71Lys	missense variant	-	NC_000009.12:g.97854125G>A	ExAC,gnomAD
rs750270191	p.Glu71Gly	missense variant	-	NC_000009.12:g.97854126A>G	ExAC,gnomAD
rs764965228	p.Glu71Lys	missense variant	-	NC_000009.12:g.97854125G>A	NCI-TCGA,NCI-TCGA Cosmic
rs758241371	p.Arg72Ser	missense variant	-	NC_000009.12:g.97854128C>A	ExAC,gnomAD
rs201022863	p.Arg72His	missense variant	-	NC_000009.12:g.97854129G>A	ExAC,gnomAD
rs1293473458	p.Arg73Gly	missense variant	-	NC_000009.12:g.97854131C>G	TOPMed
rs1277514335	p.Arg73His	missense variant	-	NC_000009.12:g.97854132G>A	gnomAD
VAR_075978	p.Arg73Ser	Missense	Bamforth-Lazarus syndrome (BLS) [MIM:241850]	-	UniProt
rs1318130446	p.Leu74Ile	missense variant	-	NC_000009.12:g.97854134C>A	gnomAD
rs1200038300	p.Leu76Val	missense variant	-	NC_000009.12:g.97854140C>G	gnomAD
rs966158331	p.Gly77Ser	missense variant	-	NC_000009.12:g.97854143G>A	TOPMed,gnomAD
rs1456874527	p.Gly78Ser	missense variant	-	NC_000009.12:g.97854146G>A	gnomAD
rs1456874527	p.Gly78Ser	missense variant	-	NC_000009.12:g.97854146G>A	NCI-TCGA
rs777717860	p.Ile79Thr	missense variant	-	NC_000009.12:g.97854150T>C	ExAC,gnomAD
rs1247742328	p.Ile79Val	missense variant	-	NC_000009.12:g.97854149A>G	gnomAD
rs757574472	p.Tyr80Cys	missense variant	-	NC_000009.12:g.97854153A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr80Ter	stop gained	-	NC_000009.12:g.97854154C>G	NCI-TCGA
rs779396347	p.Lys81Thr	missense variant	-	NC_000009.12:g.97854156A>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys81Arg	missense variant	-	NC_000009.12:g.97854156A>G	NCI-TCGA
rs772452631	p.Glu85Lys	missense variant	-	NC_000009.12:g.97854167G>A	ExAC,TOPMed,gnomAD
rs141672301	p.Glu85Asp	missense variant	-	NC_000009.12:g.97854169G>T	ESP,ExAC,TOPMed,gnomAD
rs772452631	p.Glu85Gln	missense variant	-	NC_000009.12:g.97854167G>C	ExAC,TOPMed,gnomAD
rs1351511199	p.Arg86Cys	missense variant	-	NC_000009.12:g.97854170C>T	TOPMed,gnomAD
rs1351511199	p.Arg86Ser	missense variant	-	NC_000009.12:g.97854170C>A	TOPMed,gnomAD
rs768174425	p.Arg91Cys	missense variant	-	NC_000009.12:g.97854185C>T	ExAC,gnomAD
COSM2793168	p.Arg91His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854186G>A	NCI-TCGA Cosmic
rs768174425	p.Arg91Cys	missense variant	-	NC_000009.12:g.97854185C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp92Asn	missense variant	-	NC_000009.12:g.97854188G>A	NCI-TCGA
rs1480916945	p.Lys95Arg	missense variant	-	NC_000009.12:g.97854198A>G	TOPMed
rs578111309	p.Lys95Gln	missense variant	-	NC_000009.12:g.97854197A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs772990488	p.Trp97Leu	missense variant	-	NC_000009.12:g.97854204G>T	ExAC,gnomAD
rs1419680083	p.Asn99Lys	missense variant	-	NC_000009.12:g.97854211C>G	gnomAD
rs1219883840	p.Asn99Asp	missense variant	-	NC_000009.12:g.97854209A>G	gnomAD
rs762867846	p.Ser100Arg	missense variant	-	NC_000009.12:g.97854212A>C	ExAC,gnomAD
rs1196231064	p.Ser100Thr	missense variant	-	NC_000009.12:g.97854213G>C	TOPMed
rs1478308136	p.Ile101Val	missense variant	-	NC_000009.12:g.97854215A>G	gnomAD
rs1421696257	p.Arg102His	missense variant	-	NC_000009.12:g.97854219G>A	gnomAD
rs104894111	p.Arg102Cys	missense variant	-	NC_000009.12:g.97854218C>T	TOPMed
rs104894111	p.Arg102Cys	missense variant	-	NC_000009.12:g.97854218C>T	UniProt,dbSNP
VAR_027508	p.Arg102Cys	missense variant	-	NC_000009.12:g.97854218C>T	UniProt
rs1421696257	p.Arg102His	missense variant	-	NC_000009.12:g.97854219G>A	NCI-TCGA
RCV000007404	p.Arg102Cys	missense variant	Hypothyroidism, thyroidal, with spiky hair and cleft palate	NC_000009.12:g.97854218C>T	ClinVar
rs751443347	p.Thr106Ala	missense variant	-	NC_000009.12:g.97854230A>G	ExAC,gnomAD
rs1415937469	p.Leu107Phe	missense variant	-	NC_000009.12:g.97854233C>T	gnomAD
rs754900503	p.Asn108His	missense variant	-	NC_000009.12:g.97854236A>C	ExAC,gnomAD
rs764217545	p.Asn108Ser	missense variant	-	NC_000009.12:g.97854237A>G	ExAC,gnomAD
rs754019645	p.Asp109Glu	missense variant	-	NC_000009.12:g.97854241C>G	ExAC,gnomAD
rs757519887	p.Leu112Phe	missense variant	-	NC_000009.12:g.97854248C>T	ExAC,gnomAD
rs746092247	p.Pro115Ser	missense variant	-	NC_000009.12:g.97854257C>T	ExAC,gnomAD
rs758723116	p.Pro115Leu	missense variant	-	NC_000009.12:g.97854258C>T	ExAC,gnomAD
rs758723116	p.Pro115Arg	missense variant	-	NC_000009.12:g.97854258C>G	ExAC,gnomAD
rs1285423385	p.Arg116Ser	missense variant	-	NC_000009.12:g.97854260C>A	gnomAD
COSM1464334	p.Arg116Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854260C>T	NCI-TCGA Cosmic
rs1227098969	p.Glu117Lys	missense variant	-	NC_000009.12:g.97854263G>A	gnomAD
COSM4830029	p.Glu117Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854263G>C	NCI-TCGA Cosmic
rs1227098969	p.Glu117Lys	missense variant	-	NC_000009.12:g.97854263G>A	NCI-TCGA Cosmic
rs149751469	p.Ala118Val	missense variant	-	NC_000009.12:g.97854267C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs867894807	p.Gly119Cys	missense variant	-	NC_000009.12:g.97854269G>T	gnomAD
rs867894807	p.Gly119Ser	missense variant	-	NC_000009.12:g.97854269G>A	gnomAD
rs776090929	p.Gly119Ala	missense variant	-	NC_000009.12:g.97854270G>C	ExAC,gnomAD
rs747728255	p.Arg120His	missense variant	-	NC_000009.12:g.97854273G>A	ExAC,gnomAD
rs369225374	p.Pro121Gln	missense variant	-	NC_000009.12:g.97854276C>A	ESP,ExAC,gnomAD
rs769427010	p.Pro121Ser	missense variant	-	NC_000009.12:g.97854275C>T	ExAC,TOPMed,gnomAD
rs369225374	p.Pro121Arg	missense variant	-	NC_000009.12:g.97854276C>G	ESP,ExAC,gnomAD
COSM3902448	p.Gly122Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854279G>A	NCI-TCGA Cosmic
rs147419077	p.Lys123Glu	missense variant	-	NC_000009.12:g.97854281A>G	ESP
rs774035532	p.Gly124Arg	missense variant	-	NC_000009.12:g.97854284G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly124Ser	missense variant	-	NC_000009.12:g.97854284G>A	NCI-TCGA
rs1380786019	p.Trp127Cys	missense variant	-	NC_000009.12:g.97854295G>C	gnomAD
rs1421319199	p.Ala128Thr	missense variant	-	NC_000009.12:g.97854296G>A	TOPMed,gnomAD
rs753962245	p.Asp130Glu	missense variant	-	NC_000009.12:g.97854304C>A	ExAC,TOPMed,gnomAD
rs762041111	p.Asn132Asp	missense variant	-	NC_000009.12:g.97854308A>G	ExAC,gnomAD
rs762041111	p.Asn132Asp	missense variant	-	NC_000009.12:g.97854308A>G	UniProt,dbSNP
VAR_075979	p.Asn132Asp	missense variant	-	NC_000009.12:g.97854308A>G	UniProt
rs765412740	p.Asn132Lys	missense variant	-	NC_000009.12:g.97854310C>A	ExAC,TOPMed,gnomAD
COSM1103055	p.Ala133Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854311G>A	NCI-TCGA Cosmic
rs1249768990	p.Glu134Lys	missense variant	-	NC_000009.12:g.97854314G>A	TOPMed
rs1373629292	p.Glu134Gly	missense variant	-	NC_000009.12:g.97854315A>G	gnomAD
rs758572525	p.Asp135Asn	missense variant	-	NC_000009.12:g.97854317G>A	ExAC,gnomAD
rs780445787	p.Met136Val	missense variant	-	NC_000009.12:g.97854320A>G	ExAC,gnomAD
VAR_075980	p.Phe137Ser	Missense	-	-	UniProt
rs751912987	p.Glu138Lys	missense variant	-	NC_000009.12:g.97854326G>A	ExAC,gnomAD
rs961128078	p.Ser139Asn	missense variant	-	NC_000009.12:g.97854330G>A	TOPMed
rs1284307491	p.Gly140Arg	missense variant	-	NC_000009.12:g.97854332G>C	gnomAD
rs781710791	p.Ser141Arg	missense variant	-	NC_000009.12:g.97854337C>G	ExAC
rs560933505	p.Ser141Thr	missense variant	-	NC_000009.12:g.97854336G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Phe142Leu	missense variant	-	NC_000009.12:g.97854340C>A	NCI-TCGA
rs199664273	p.Arg144His	missense variant	-	NC_000009.12:g.97854345G>A	ExAC,gnomAD
rs199664273	p.Arg144Pro	missense variant	-	NC_000009.12:g.97854345G>C	ExAC,gnomAD
COSM3902450	p.Arg144Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854344C>T	NCI-TCGA Cosmic
rs543334166	p.Arg145His	missense variant	-	NC_000009.12:g.97854348G>A	1000Genomes,ExAC,gnomAD
rs777292713	p.Arg145Cys	missense variant	-	NC_000009.12:g.97854347C>T	ExAC,gnomAD
rs777292713	p.Arg145Cys	missense variant	-	NC_000009.12:g.97854347C>T	NCI-TCGA
rs1441439043	p.Arg146His	missense variant	-	NC_000009.12:g.97854351G>A	gnomAD
rs1441439043	p.Arg146His	missense variant	-	NC_000009.12:g.97854351G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg146Cys	missense variant	-	NC_000009.12:g.97854350C>T	NCI-TCGA
rs1176602274	p.Arg148Pro	missense variant	-	NC_000009.12:g.97854357G>C	gnomAD
rs770535939	p.Arg151Leu	missense variant	-	NC_000009.12:g.97854366G>T	ExAC,gnomAD
rs1399563681	p.Ser152Leu	missense variant	-	NC_000009.12:g.97854369C>T	gnomAD
rs1399563681	p.Ser152Leu	missense variant	-	NC_000009.12:g.97854369C>T	NCI-TCGA
rs774164356	p.Leu154Arg	missense variant	-	NC_000009.12:g.97854375T>G	ExAC,gnomAD
rs1331415735	p.Ser155Pro	missense variant	-	NC_000009.12:g.97854377T>C	TOPMed,gnomAD
rs759314402	p.Thr156Ala	missense variant	-	NC_000009.12:g.97854380A>G	ExAC,gnomAD
rs759314402	p.Thr156Ala	missense variant	-	NC_000009.12:g.97854380A>G	NCI-TCGA
rs1449646770	p.Tyr157Asn	missense variant	-	NC_000009.12:g.97854383T>A	gnomAD
rs1449646770	p.Tyr157Asp	missense variant	-	NC_000009.12:g.97854383T>G	gnomAD
rs775509990	p.Pro158Thr	missense variant	-	NC_000009.12:g.97854386C>A	ExAC,TOPMed,gnomAD
rs765360231	p.Ala159Thr	missense variant	-	NC_000009.12:g.97854389G>A	ExAC,gnomAD
rs750518691	p.Ala159Val	missense variant	-	NC_000009.12:g.97854390C>T	ExAC,TOPMed,gnomAD
rs763206627	p.Tyr160Cys	missense variant	-	NC_000009.12:g.97854393A>G	ExAC,gnomAD
rs1459086081	p.Met161Leu	missense variant	-	NC_000009.12:g.97854395A>T	TOPMed,gnomAD
rs751942900	p.Met161Thr	missense variant	-	NC_000009.12:g.97854396T>C	ExAC,gnomAD
rs1459086081	p.Met161Leu	missense variant	-	NC_000009.12:g.97854395A>C	TOPMed,gnomAD
rs755282859	p.Met161Ile	missense variant	-	NC_000009.12:g.97854397G>C	ExAC,TOPMed,gnomAD
rs532218005	p.His162Gln	missense variant	-	NC_000009.12:g.97854400C>G	1000Genomes,ExAC,gnomAD
rs532218005	p.His162Gln	missense variant	-	NC_000009.12:g.97854400C>A	1000Genomes,ExAC,gnomAD
rs753158939	p.Asp163Asn	missense variant	-	NC_000009.12:g.97854401G>A	ExAC,TOPMed,gnomAD
rs1289624984	p.Asp163Ala	missense variant	-	NC_000009.12:g.97854402A>C	TOPMed
rs753158939	p.Asp163Tyr	missense variant	-	NC_000009.12:g.97854401G>T	ExAC,TOPMed,gnomAD
COSM1207410	p.Ala164Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854405C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala165Pro	missense variant	-	NC_000009.12:g.97854407G>C	NCI-TCGA
rs756633940	p.Ala166Ser	missense variant	-	NC_000009.12:g.97854410G>T	ExAC,TOPMed,gnomAD
rs756633940	p.Ala166Thr	missense variant	-	NC_000009.12:g.97854410G>A	ExAC,TOPMed,gnomAD
rs1401851392	p.Ala167Val	missense variant	-	NC_000009.12:g.97854414C>T	gnomAD
rs748786457	p.Ala167Ser	missense variant	-	NC_000009.12:g.97854413G>T	ExAC,TOPMed,gnomAD
rs748786457	p.Ala167Thr	missense variant	-	NC_000009.12:g.97854413G>A	ExAC,TOPMed,gnomAD
rs778487508	p.Ala170Thr	missense variant	-	NC_000009.12:g.97854422G>A	ExAC,gnomAD
rs1296980294	p.Ala170Asp	missense variant	-	NC_000009.12:g.97854423C>A	gnomAD
rs1412675005	p.Ala171Thr	missense variant	-	NC_000009.12:g.97854425G>A	TOPMed
rs1396354198	p.Ala171Val	missense variant	-	NC_000009.12:g.97854426C>T	gnomAD
rs1303832098	p.Ala172Thr	missense variant	-	NC_000009.12:g.97854428G>A	gnomAD
rs1223127008	p.Ala173Thr	missense variant	-	NC_000009.12:g.97854431G>A	TOPMed,gnomAD
rs768756124	p.Ala175Thr	missense variant	-	NC_000009.12:g.97854437G>A	ExAC
rs1440059398	p.Ala179Pro	missense variant	-	NC_000009.12:g.97854449G>C	TOPMed
VAR_037643	p.Ala179insAlaAlaAla	repeated_sequence	-	-	UniProt
rs1467988158	p.Phe181Leu	missense variant	-	NC_000009.12:g.97854457C>A	TOPMed,gnomAD
rs988624138	p.Gly183Ser	missense variant	-	NC_000009.12:g.97854461G>A	TOPMed
rs1275323420	p.Ala187Val	missense variant	-	NC_000009.12:g.97854474C>T	TOPMed
rs1234108836	p.Arg189Gly	missense variant	-	NC_000009.12:g.97854479C>G	TOPMed
rs182535331	p.Pro190Arg	missense variant	-	NC_000009.12:g.97854483C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1043573644	p.Pro190Ala	missense variant	-	NC_000009.12:g.97854482C>G	TOPMed,gnomAD
rs182535331	p.Pro190Leu	missense variant	-	NC_000009.12:g.97854483C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1043573644	p.Pro190Ser	missense variant	-	NC_000009.12:g.97854482C>T	TOPMed,gnomAD
rs1057363769	p.Pro191His	missense variant	-	NC_000009.12:g.97854486C>A	TOPMed,gnomAD
rs1057363769	p.Pro191Leu	missense variant	-	NC_000009.12:g.97854486C>T	TOPMed,gnomAD
rs1057363769	p.Pro191Arg	missense variant	-	NC_000009.12:g.97854486C>G	TOPMed,gnomAD
rs1284413698	p.Tyr192His	missense variant	-	NC_000009.12:g.97854488T>C	TOPMed,gnomAD
rs896086448	p.Pro193Leu	missense variant	-	NC_000009.12:g.97854492C>T	TOPMed
rs1178531031	p.Gly194Asp	missense variant	-	NC_000009.12:g.97854495G>A	TOPMed
rs1222011725	p.Ala198Gly	missense variant	-	NC_000009.12:g.97854507C>G	TOPMed,gnomAD
rs1226424447	p.Ala201Thr	missense variant	-	NC_000009.12:g.97854515G>A	TOPMed
rs1015105511	p.Ala201Val	missense variant	-	NC_000009.12:g.97854516C>T	TOPMed,gnomAD
rs1308483515	p.Pro202Thr	missense variant	-	NC_000009.12:g.97854518C>A	gnomAD
rs766497891	p.Pro203Arg	missense variant	-	NC_000009.12:g.97854522C>G	ExAC,TOPMed,gnomAD
rs1425267741	p.Leu205Val	missense variant	-	NC_000009.12:g.97854527C>G	TOPMed,gnomAD
rs774373703	p.Ala206Thr	missense variant	-	NC_000009.12:g.97854530G>A	ExAC,TOPMed,gnomAD
rs1027187148	p.Pro208Arg	missense variant	-	NC_000009.12:g.97854537C>G	TOPMed
rs1327333325	p.Pro210Ala	missense variant	-	NC_000009.12:g.97854542C>G	TOPMed
rs1169095282	p.Val211Phe	missense variant	-	NC_000009.12:g.97854545G>T	TOPMed,gnomAD
rs1169095282	p.Val211Ile	missense variant	-	NC_000009.12:g.97854545G>A	TOPMed,gnomAD
rs1348964799	p.Val211Asp	missense variant	-	NC_000009.12:g.97854546T>A	TOPMed
rs1321129320	p.Tyr212Ser	missense variant	-	NC_000009.12:g.97854549A>C	TOPMed
rs953725958	p.Pro214Ala	missense variant	-	NC_000009.12:g.97854554C>G	TOPMed,gnomAD
rs1158636786	p.Ala215Val	missense variant	-	NC_000009.12:g.97854558C>T	TOPMed
rs1482765785	p.Pro218His	missense variant	-	NC_000009.12:g.97854567C>A	TOPMed,gnomAD
rs1458855076	p.Gly219Arg	missense variant	-	NC_000009.12:g.97854569G>C	TOPMed,gnomAD
rs866903665	p.Pro220Leu	missense variant	-	NC_000009.12:g.97854573C>T	TOPMed
rs1295719700	p.Pro220Ser	missense variant	-	NC_000009.12:g.97854572C>T	gnomAD
rs866903665	p.Pro220Arg	missense variant	-	NC_000009.12:g.97854573C>G	TOPMed
rs985554868	p.Arg222Pro	missense variant	-	NC_000009.12:g.97854579G>C	TOPMed,gnomAD
rs1299052647	p.Val223Ile	missense variant	-	NC_000009.12:g.97854581G>A	gnomAD
rs759780973	p.Gly225Ser	missense variant	-	NC_000009.12:g.97854587G>A	ExAC,TOPMed,gnomAD
rs965279677	p.Leu226Pro	missense variant	-	NC_000009.12:g.97854591T>C	TOPMed
rs1215534945	p.Val227Phe	missense variant	-	NC_000009.12:g.97854593G>T	TOPMed
rs556903865	p.Pro228Ala	missense variant	-	NC_000009.12:g.97854596C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs556903865	p.Pro228Ser	missense variant	-	NC_000009.12:g.97854596C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs556903865	p.Pro228Thr	missense variant	-	NC_000009.12:g.97854596C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1322325621	p.Glu229Gly	missense variant	-	NC_000009.12:g.97854600A>G	gnomAD
rs1289438181	p.Arg230Pro	missense variant	-	NC_000009.12:g.97854603G>C	TOPMed,gnomAD
rs1289438181	p.Arg230Leu	missense variant	-	NC_000009.12:g.97854603G>T	TOPMed,gnomAD
rs1246910907	p.Arg230Trp	missense variant	-	NC_000009.12:g.97854602C>T	gnomAD
rs1217015768	p.Pro231Thr	missense variant	-	NC_000009.12:g.97854605C>A	gnomAD
rs1487089314	p.Leu232Phe	missense variant	-	NC_000009.12:g.97854608C>T	gnomAD
rs1256236600	p.Ser233Ile	missense variant	-	NC_000009.12:g.97854612G>T	gnomAD
rs913070188	p.Ser233Gly	missense variant	-	NC_000009.12:g.97854611A>G	TOPMed
rs1424973397	p.Ser233Arg	missense variant	-	NC_000009.12:g.97854613C>G	TOPMed,gnomAD
rs1424973397	p.Ser233Arg	missense variant	-	NC_000009.12:g.97854613C>A	TOPMed,gnomAD
rs1167541936	p.Leu236Val	missense variant	-	NC_000009.12:g.97854620C>G	gnomAD
rs1167541936	p.Leu236Met	missense variant	-	NC_000009.12:g.97854620C>A	gnomAD
rs1424474762	p.Gly237Arg	missense variant	-	NC_000009.12:g.97854623G>A	gnomAD
rs947241980	p.Pro238Ala	missense variant	-	NC_000009.12:g.97854626C>G	TOPMed
rs756579198	p.Ala239Ser	missense variant	-	NC_000009.12:g.97854629G>T	ExAC,gnomAD
rs1432718937	p.Ala239Val	missense variant	-	NC_000009.12:g.97854630C>T	TOPMed
rs756579198	p.Ala239Thr	missense variant	-	NC_000009.12:g.97854629G>A	ExAC,gnomAD
rs1419938764	p.Pro240Thr	missense variant	-	NC_000009.12:g.97854632C>A	gnomAD
rs1167876774	p.Gly244Ser	missense variant	-	NC_000009.12:g.97854644G>A	TOPMed,gnomAD
rs1192690273	p.Gly245Asp	missense variant	-	NC_000009.12:g.97854648G>A	TOPMed
rs1282437190	p.Ser246Phe	missense variant	-	NC_000009.12:g.97854651C>T	TOPMed
rs1358602866	p.Cys247Ser	missense variant	-	NC_000009.12:g.97854654G>C	TOPMed,gnomAD
rs1358602866	p.Cys247Tyr	missense variant	-	NC_000009.12:g.97854654G>A	TOPMed,gnomAD
rs538912281	p.Ala248Val	missense variant	-	NC_000009.12:g.97854657C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000190467	p.Ala248Gly	missense variant	Thyroid cancer, nonmedullary, 4 (NMTC4)	NC_000009.12:g.97854657C>G	ClinVar
rs538912281	p.Ala248Asp	missense variant	-	NC_000009.12:g.97854657C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs538912281	p.Ala248Gly	missense variant	Thyroid cancer, non-medullary, 4 (NMTC4)	NC_000009.12:g.97854657C>G	UniProt,dbSNP
VAR_075981	p.Ala248Gly	missense variant	Thyroid cancer, non-medullary, 4 (NMTC4)	NC_000009.12:g.97854657C>G	UniProt
rs538912281	p.Ala248Gly	missense variant	-	NC_000009.12:g.97854657C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs937334255	p.Ser251Thr	missense variant	-	NC_000009.12:g.97854665T>A	TOPMed
rs1314827797	p.Ser251Tyr	missense variant	-	NC_000009.12:g.97854666C>A	gnomAD
rs756663689	p.Ala252Ser	missense variant	-	NC_000009.12:g.97854668G>T	ExAC,gnomAD
rs778490079	p.Gly253Ser	missense variant	-	NC_000009.12:g.97854671G>A	ExAC
rs1179728924	p.Ala256Ser	missense variant	-	NC_000009.12:g.97854680G>T	gnomAD
rs1382559658	p.Thr258Ile	missense variant	-	NC_000009.12:g.97854687C>T	TOPMed,gnomAD
rs1382559658	p.Thr258Asn	missense variant	-	NC_000009.12:g.97854687C>A	TOPMed,gnomAD
rs1158688131	p.Gly260Cys	missense variant	-	NC_000009.12:g.97854692G>T	TOPMed,gnomAD
rs1158688131	p.Gly260Ser	missense variant	-	NC_000009.12:g.97854692G>A	TOPMed,gnomAD
rs1410552846	p.Tyr261Cys	missense variant	-	NC_000009.12:g.97854696A>G	TOPMed
rs1274823468	p.Gln262Lys	missense variant	-	NC_000009.12:g.97854698C>A	TOPMed,gnomAD
rs1191740636	p.Pro263Ala	missense variant	-	NC_000009.12:g.97854701C>G	TOPMed
rs1359925233	p.Ala264Ser	missense variant	-	NC_000009.12:g.97854704G>T	TOPMed,gnomAD
rs1359925233	p.Ala264Thr	missense variant	-	NC_000009.12:g.97854704G>A	TOPMed,gnomAD
rs1182443612	p.Gly265Asp	missense variant	-	NC_000009.12:g.97854708G>A	TOPMed
rs745468926	p.Thr267Ile	missense variant	-	NC_000009.12:g.97854714C>T	ExAC,gnomAD
rs1334758145	p.Gly268Trp	missense variant	-	NC_000009.12:g.97854716G>T	gnomAD
rs1382014380	p.Gly268Val	missense variant	-	NC_000009.12:g.97854717G>T	gnomAD
rs1334758145	p.Gly268Arg	missense variant	-	NC_000009.12:g.97854716G>A	gnomAD
rs1370924965	p.Ala269Asp	missense variant	-	NC_000009.12:g.97854720C>A	gnomAD
rs1311284366	p.Ala269Ser	missense variant	-	NC_000009.12:g.97854719G>T	gnomAD
rs1313569528	p.Arg270Leu	missense variant	-	NC_000009.12:g.97854723G>T	gnomAD
rs1313569528	p.Arg270Pro	missense variant	-	NC_000009.12:g.97854723G>C	gnomAD
rs1301578947	p.Arg270Trp	missense variant	-	NC_000009.12:g.97854722C>T	TOPMed,gnomAD
rs1261963885	p.Pro271Thr	missense variant	-	NC_000009.12:g.97854725C>A	gnomAD
rs1457769253	p.Pro271Leu	missense variant	-	NC_000009.12:g.97854726C>T	gnomAD
rs1457769253	p.Pro271Gln	missense variant	-	NC_000009.12:g.97854726C>A	gnomAD
rs1261963885	p.Pro271Ser	missense variant	-	NC_000009.12:g.97854725C>T	gnomAD
rs758175291	p.Ala272Asp	missense variant	-	NC_000009.12:g.97854729C>A	ExAC,gnomAD
rs1235058535	p.Ala272Thr	missense variant	-	NC_000009.12:g.97854728G>A	TOPMed,gnomAD
rs779966006	p.Asn273Lys	missense variant	-	NC_000009.12:g.97854733C>G	ExAC,gnomAD
rs779966006	p.Asn273Lys	missense variant	-	NC_000009.12:g.97854733C>A	ExAC,gnomAD
rs1426197306	p.Pro274Ser	missense variant	-	NC_000009.12:g.97854734C>T	gnomAD
rs751660227	p.Ser275ProPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.97854733C>-	NCI-TCGA
rs1174448034	p.Ser275Tyr	missense variant	-	NC_000009.12:g.97854738C>A	gnomAD
rs1333307649	p.Ala276Asp	missense variant	-	NC_000009.12:g.97854741C>A	gnomAD
rs1036653031	p.Ala276Thr	missense variant	-	NC_000009.12:g.97854740G>A	TOPMed,gnomAD
rs1337483112	p.Tyr277His	missense variant	-	NC_000009.12:g.97854743T>C	TOPMed
rs1441256587	p.Tyr277Cys	missense variant	-	NC_000009.12:g.97854744A>G	gnomAD
rs1369368312	p.Ala278Val	missense variant	-	NC_000009.12:g.97854747C>T	TOPMed,gnomAD
rs768628336	p.Ala279Thr	missense variant	-	NC_000009.12:g.97854749G>A	ExAC,gnomAD
rs1318033693	p.Ala279Val	missense variant	-	NC_000009.12:g.97854750C>T	gnomAD
rs1219896170	p.Ala280Ser	missense variant	-	NC_000009.12:g.97854752G>T	gnomAD
rs1219896170	p.Ala280Thr	missense variant	-	NC_000009.12:g.97854752G>A	gnomAD
rs776377853	p.Ala282Ser	missense variant	-	NC_000009.12:g.97854758G>T	ExAC,TOPMed,gnomAD
rs1204332753	p.Ala282Val	missense variant	-	NC_000009.12:g.97854759C>T	gnomAD
rs776377853	p.Ala282Thr	missense variant	-	NC_000009.12:g.97854758G>A	ExAC,TOPMed,gnomAD
rs1490922625	p.Gly283Val	missense variant	-	NC_000009.12:g.97854762G>T	gnomAD
rs1300371630	p.Pro284Arg	missense variant	-	NC_000009.12:g.97854765C>G	TOPMed
rs1447662669	p.Asp285Val	missense variant	-	NC_000009.12:g.97854768A>T	TOPMed
rs1478206560	p.Asp285Glu	missense variant	-	NC_000009.12:g.97854769C>A	TOPMed,gnomAD
rs1428797247	p.Asp285Asn	missense variant	-	NC_000009.12:g.97854767G>A	gnomAD
rs1478206560	p.Asp285Glu	missense variant	-	NC_000009.12:g.97854769C>G	TOPMed,gnomAD
rs1168870812	p.Gly286Asp	missense variant	-	NC_000009.12:g.97854771G>A	TOPMed
rs1417367716	p.Ala287Pro	missense variant	-	NC_000009.12:g.97854773G>C	gnomAD
rs1409298804	p.Pro289Ser	missense variant	-	NC_000009.12:g.97854779C>T	TOPMed,gnomAD
rs1409298804	p.Pro289Thr	missense variant	-	NC_000009.12:g.97854779C>A	TOPMed,gnomAD
rs1324051960	p.Pro289Arg	missense variant	-	NC_000009.12:g.97854780C>G	gnomAD
rs1045902549	p.Gly291Val	missense variant	-	NC_000009.12:g.97854786G>T	gnomAD
rs1340715840	p.Ala292Pro	missense variant	-	NC_000009.12:g.97854788G>C	gnomAD
rs1340715840	p.Ala292Thr	missense variant	-	NC_000009.12:g.97854788G>A	gnomAD
rs1242700002	p.Ala292Gly	missense variant	-	NC_000009.12:g.97854789C>G	gnomAD
rs542731474	p.Gly293Cys	missense variant	-	NC_000009.12:g.97854791G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs542731474	p.Gly293Ser	missense variant	-	NC_000009.12:g.97854791G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs542731474	p.Gly293Arg	missense variant	-	NC_000009.12:g.97854791G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1267881083	p.Ser294Arg	missense variant	-	NC_000009.12:g.97854794A>C	gnomAD
rs377692338	p.Ser294Asn	missense variant	-	NC_000009.12:g.97854795G>A	ExAC,TOPMed,gnomAD
rs1214499167	p.Ala295Thr	missense variant	-	NC_000009.12:g.97854797G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala295Val	missense variant	-	NC_000009.12:g.97854798C>T	NCI-TCGA
rs187232918	p.Ala298Pro	missense variant	-	NC_000009.12:g.97854806G>C	1000Genomes,gnomAD
rs187232918	p.Ala298Thr	missense variant	-	NC_000009.12:g.97854806G>A	1000Genomes,gnomAD
rs1220668801	p.Ala299Thr	missense variant	-	NC_000009.12:g.97854809G>A	TOPMed,gnomAD
rs1268494910	p.Gly301Ser	missense variant	-	NC_000009.12:g.97854815G>A	gnomAD
rs1488726187	p.Arg302Cys	missense variant	-	NC_000009.12:g.97854818C>T	gnomAD
rs775827100	p.Ala304Val	missense variant	-	NC_000009.12:g.97854825C>T	ExAC,TOPMed,gnomAD
rs1475092224	p.Ala307Ser	missense variant	-	NC_000009.12:g.97854833G>T	gnomAD
rs1386974111	p.Ser308Leu	missense variant	-	NC_000009.12:g.97854837C>T	gnomAD
rs1162674885	p.Pro309Ser	missense variant	-	NC_000009.12:g.97854839C>T	gnomAD
rs1165128319	p.Pro309Arg	missense variant	-	NC_000009.12:g.97854840C>G	gnomAD
rs1360838180	p.Pro310Leu	missense variant	-	NC_000009.12:g.97854843C>T	gnomAD
rs1383553606	p.Ala311Val	missense variant	-	NC_000009.12:g.97854846C>T	gnomAD
rs1325358289	p.Gly312Ser	missense variant	-	NC_000009.12:g.97854848G>A	gnomAD
rs867468354	p.Gly313Cys	missense variant	-	NC_000009.12:g.97854851G>T	TOPMed,gnomAD
rs867468354	p.Gly313Ser	missense variant	-	NC_000009.12:g.97854851G>A	TOPMed,gnomAD
rs1244297944	p.Ser314Thr	missense variant	-	NC_000009.12:g.97854855G>C	gnomAD
rs1323468644	p.Ser315Asn	missense variant	-	NC_000009.12:g.97854858G>A	TOPMed,gnomAD
rs754231919	p.Gly316Asp	missense variant	-	NC_000009.12:g.97854861G>A	ExAC,TOPMed,gnomAD
rs1354786120	p.Gly317Ser	missense variant	-	NC_000009.12:g.97854863G>A	gnomAD
rs764631482	p.Glu319Lys	missense variant	-	NC_000009.12:g.97854869G>A	ExAC,gnomAD
rs1446536306	p.Thr320Ala	missense variant	-	NC_000009.12:g.97854872A>G	gnomAD
rs1379545688	p.Thr321Lys	missense variant	-	NC_000009.12:g.97854876C>A	TOPMed
rs758120385	p.Phe324Leu	missense variant	-	NC_000009.12:g.97854886C>A	ExAC,TOPMed,gnomAD
rs867090007	p.Phe324Leu	missense variant	-	NC_000009.12:g.97854884T>C	gnomAD
rs779912895	p.Tyr325Ser	missense variant	-	NC_000009.12:g.97854888A>C	ExAC,TOPMed,gnomAD
rs746677097	p.Gly326Arg	missense variant	-	NC_000009.12:g.97854890G>A	ExAC,TOPMed,gnomAD
rs754667136	p.Gly326Ala	missense variant	-	NC_000009.12:g.97854891G>C	ExAC,gnomAD
rs746677097	p.Gly326Arg	missense variant	-	NC_000009.12:g.97854890G>C	ExAC,TOPMed,gnomAD
rs781077121	p.Arg327His	missense variant	-	NC_000009.12:g.97854894G>A	ExAC,gnomAD
rs769816707	p.Thr328Met	missense variant	-	NC_000009.12:g.97854897C>T	ExAC,gnomAD
rs769816707	p.Thr328Arg	missense variant	-	NC_000009.12:g.97854897C>G	ExAC,gnomAD
rs747982915	p.Thr328Ser	missense variant	-	NC_000009.12:g.97854896A>T	ExAC,gnomAD
rs1451103731	p.Pro330His	missense variant	-	NC_000009.12:g.97854903C>A	TOPMed,gnomAD
rs1451103731	p.Pro330Leu	missense variant	-	NC_000009.12:g.97854903C>T	TOPMed,gnomAD
rs1378140392	p.Gly331Asp	missense variant	-	NC_000009.12:g.97854906G>A	gnomAD
COSM3902452	p.Gly331Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854905G>A	NCI-TCGA Cosmic
rs1353640909	p.Gln332Arg	missense variant	-	NC_000009.12:g.97854909A>G	TOPMed
rs376303736	p.Gly334Arg	missense variant	-	NC_000009.12:g.97854914G>C	ESP,ExAC,gnomAD
rs543372757	p.Ala335Gly	missense variant	-	NC_000009.12:g.97854918C>G	1000Genomes,TOPMed,gnomAD
rs543372757	p.Ala335Val	missense variant	-	NC_000009.12:g.97854918C>T	1000Genomes,TOPMed,gnomAD
rs1350206876	p.Ala338Pro	missense variant	-	NC_000009.12:g.97854926G>C	gnomAD
rs1209325248	p.Ala338Val	missense variant	-	NC_000009.12:g.97854927C>T	gnomAD
rs965908826	p.Tyr340Cys	missense variant	-	NC_000009.12:g.97854933A>G	TOPMed,gnomAD
rs775631008	p.Asn341Lys	missense variant	-	NC_000009.12:g.97854937C>G	ExAC,gnomAD
rs1202969544	p.Gly344Glu	missense variant	-	NC_000009.12:g.97854945G>A	gnomAD
rs1238658162	p.Gln345Arg	missense variant	-	NC_000009.12:g.97854948A>G	gnomAD
rs768862014	p.Leu346Arg	missense variant	-	NC_000009.12:g.97854951T>G	ExAC,TOPMed,gnomAD
rs1362909408	p.Gly347Arg	missense variant	-	NC_000009.12:g.97854953G>A	TOPMed,gnomAD
rs1388395942	p.Gly347Ala	missense variant	-	NC_000009.12:g.97854954G>C	TOPMed
rs1362909408	p.Gly347Ter	stop gained	-	NC_000009.12:g.97854953G>T	TOPMed,gnomAD
rs1362909408	p.Gly347Arg	missense variant	-	NC_000009.12:g.97854953G>A	NCI-TCGA Cosmic
rs1178062696	p.Gly348Glu	missense variant	-	NC_000009.12:g.97854957G>A	gnomAD
rs1478143400	p.Gly348Arg	missense variant	-	NC_000009.12:g.97854956G>A	TOPMed,gnomAD
rs370614741	p.Ala349Thr	missense variant	-	NC_000009.12:g.97854959G>A	ESP,ExAC,TOPMed,gnomAD
rs370614741	p.Ala349Pro	missense variant	-	NC_000009.12:g.97854959G>C	ESP,ExAC,TOPMed,gnomAD
rs749941792	p.Ala353Thr	missense variant	-	NC_000009.12:g.97854971G>A	ExAC,gnomAD
rs1197806182	p.Tyr354His	missense variant	-	NC_000009.12:g.97854974T>C	TOPMed
rs762497081	p.His355Arg	missense variant	-	NC_000009.12:g.97854978A>G	ExAC,gnomAD
rs765994883	p.Arg357Gly	missense variant	-	NC_000009.12:g.97854983C>G	ExAC,TOPMed,gnomAD
rs751221581	p.Arg357Leu	missense variant	-	NC_000009.12:g.97854984G>T	ExAC,gnomAD
rs765994883	p.Arg357Ser	missense variant	-	NC_000009.12:g.97854983C>A	ExAC,TOPMed,gnomAD
rs1194877623	p.Ala360Val	missense variant	-	NC_000009.12:g.97854993C>T	TOPMed
rs1194877623	p.Ala360Val	missense variant	-	NC_000009.12:g.97854993C>T	NCI-TCGA
rs1321530779	p.Ala361Thr	missense variant	-	NC_000009.12:g.97854995G>A	gnomAD
rs1321530779	p.Ala361Thr	missense variant	-	NC_000009.12:g.97854995G>A	NCI-TCGA Cosmic
rs200556187	p.Pro363Ala	missense variant	-	NC_000009.12:g.97855001C>G	ESP,ExAC,TOPMed,gnomAD
rs565079882	p.Gly364Ser	missense variant	-	NC_000009.12:g.97855004G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752573832	p.Gly365Arg	missense variant	-	NC_000009.12:g.97855007G>A	ExAC,gnomAD
rs755997712	p.Asp367Asn	missense variant	-	NC_000009.12:g.97855013G>A	ExAC,gnomAD
rs777743946	p.Arg368Leu	missense variant	-	NC_000009.12:g.97855017G>T	ExAC,gnomAD
rs1451910373	p.Phe369Ser	missense variant	-	NC_000009.12:g.97855020T>C	gnomAD
rs749236263	p.Val370Ala	missense variant	-	NC_000009.12:g.97855023T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val370Met	missense variant	-	NC_000009.12:g.97855022G>A	NCI-TCGA
rs772072435	p.Ser371Pro	missense variant	-	NC_000009.12:g.97855025T>C	ExAC,TOPMed,gnomAD
rs747177483	p.Ala372Pro	missense variant	-	NC_000009.12:g.97855028G>C	ExAC,TOPMed,gnomAD
rs747177483	p.Ala372Ser	missense variant	-	NC_000009.12:g.97855028G>T	ExAC,TOPMed,gnomAD
rs1463977882	p.Met373Thr	missense variant	-	NC_000009.12:g.97855032T>C	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000731	Abdomen distended	phenotype	HPO
C0000768	Congenital Abnormality	group	BEFREE
C0000846	Agenesis	disease	BEFREE
C0002793	Anaplasia	disease	BEFREE
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0008297	Choanal Atresia	disease	BEFREE;GENOMICS_ENGLAND;HPO
C0008924	Cleft upper lip	disease	BEFREE
C0008925	Cleft Palate	disease	BEFREE;LHGDN
C0009319	Colitis	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009806	Constipation	phenotype	HPO
C0010308	Congenital Hypothyroidism	disease	BEFREE;GENOMICS_ENGLAND;HPO;LHGDN;MGD
C0015672	Fatigue	phenotype	HPO
C0018023	Nodular Goiter	disease	HPO
C0018671	Head and Neck Neoplasms	group	HPO
C0020224	Polyhydramnios	phenotype	HPO
C0020676	Hypothyroidism	disease	BEFREE;HPO
C0024421	Macroglossia	disease	HPO
C0025322	Premature Menopause	phenotype	BEFREE
C0025362	Mental Retardation	disease	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0028754	Obesity	disease	BEFREE
C0036857	Severe mental retardation (I.Q. 20-34)	disease	HPO
C0040136	Thyroid Neoplasm	disease	BEFREE
C0085215	Ovarian Failure, Premature	disease	BEFREE;LHGDN
C0151516	Thyroid Hypoplasia	disease	BEFREE
C0151786	Muscle Weakness	phenotype	HPO
C0206682	Follicular thyroid carcinoma	disease	HPO
C0232466	Feeding difficulties	phenotype	HPO
C0237326	Dyschezia	phenotype	HPO
C0238463	Papillary thyroid carcinoma	disease	BEFREE;ORPHANET
C0265354	CHARGE Syndrome	disease	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	HPO
C0339864	Bifid epiglottis	disease	BEFREE;HPO
C0342200	Endemic Cretinism	disease	MGD
C0342208	Multinodular goiter	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0456132	Large fontanelle	phenotype	HPO
C0549473	Thyroid carcinoma	disease	BEFREE
C0553723	Squamous cell carcinoma of skin	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0749420	Thyroid Agenesis	disease	BEFREE;GENOMICS_ENGLAND;HPO;ORPHANET
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C0917799	Hypersomnia	disease	HPO
C0917816	Mental deficiency	disease	HPO
C1337013	Differentiated Thyroid Gland Carcinoma	disease	BEFREE
C1519346	Skin Carcinogenesis	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1563716	Thyroid Dysgenesis	disease	BEFREE;LHGDN
C1837217	Cleft lip, isolated	disease	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE
C1843367	Poor school performance	phenotype	HPO
C1845847	Coarse facial features	phenotype	HPO
C1855794	Bamforth syndrome	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C1858970	Chronic noninfectious lymphadenopathy	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1968699	Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate	disease	CLINVAR;CTD_human
C2239176	Liver carcinoma	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO
C3494422	Retrognathia	phenotype	HPO
C3501843	Non-medullary thyroid carcinoma	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C4020805	Athyroidal hypothyroidism	disease	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4023190	Thyroid hemiagenesis	disease	BEFREE
C4023397	Abnormal hair quantity	phenotype	HPO
C4072820	Large bregma sutures	phenotype	HPO
C4072821	Large, late-closing fontanelle	phenotype	HPO
C4072822	Wide bregma sutures	phenotype	HPO
C4072825	Thickened facial skin with coarse facial features	phenotype	HPO
C4073245	Abnormality of neck blood vessel	phenotype	HPO
C4225293	THYROID CANCER, NONMEDULLARY, 4	disease	CLINVAR;CTD_human;UNIPROT

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	IMP
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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IMP
GO:0043565	sequence-specific DNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS
GO:0000122	negative regulation of transcription by RNA polymerase II	NAS
GO:0006357	regulation of transcription by RNA polymerase II	IMP
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0006357	regulation of transcription by RNA polymerase II	IDA
GO:0006590	thyroid hormone generation	ISS
GO:0009653	anatomical structure morphogenesis	IBA
GO:0009653	anatomical structure morphogenesis	NAS
GO:0016477	cell migration	ISS
GO:0030154	cell differentiation	IBA
GO:0030878	thyroid gland development	IEP
GO:0030878	thyroid gland development	IMP
GO:0031069	hair follicle morphogenesis	ISS
GO:0045892	negative regulation of transcription, DNA-templated	ISS
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0048538	thymus development	IEP
GO:0048562	embryonic organ morphogenesis	ISS
GO:0060022	hard palate development	IMP
GO:0060023	soft palate development	IMP
GO:0060465	pharynx development	IEP
GO:1904888	cranial skeletal system development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D019813	1,2-Dimethylhydrazine	1,2-Dimethylhydrazine results in increased expression of FOXE1 mRNA	27840820
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of FOXE1 mRNA	28801915
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of FOXE1 mRNA	19114083
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of FOXE1 mRNA	18648102
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of FOXE1 mRNA	19150397
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of FOXE1 mRNA	16483693
D001280	Atrazine	Atrazine results in increased expression of FOXE1 mRNA	22378314
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of FOXE1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of FOXE1 mRNA	29275510
C006780	bisphenol A	bisphenol A affects the methylation of FOXE1 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of FOXE1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of FOXE1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of FOXE1 mRNA	23238275; 26827900;
C000611646	bisphenol F	bisphenol F results in increased expression of FOXE1 mRNA	30951980
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of FOXE1 mRNA	21297351
D002509	Cephaloridine	Cephaloridine results in decreased expression of FOXE1 mRNA	18500788
D000077209	Decitabine	Decitabine results in increased expression of FOXE1 mRNA	27915011
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of FOXE1 mRNA	21658437
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of FOXE1 mRNA	30165855
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of FOXE1 mRNA	17557909
D005557	Formaldehyde	Formaldehyde results in decreased expression of FOXE1 mRNA	20655997
C039281	furan	furan results in decreased expression of FOXE1 mRNA	25539665; 27387713;
C039281	furan	furan results in increased methylation of FOXE1 gene	27387713
D019344	Lactic Acid	Lactic Acid results in decreased expression of FOXE1 mRNA	30851411
D008694	Methamphetamine	Methamphetamine results in increased expression of FOXE1 mRNA	28341135
D008694	Methamphetamine	Methamphetamine results in increased expression of FOXE1 protein	28341135
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether analog results in decreased expression of FOXE1 mRNA	19095052
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of FOXE1 mRNA	16079270
D000077185	Resveratrol	Resveratrol results in increased expression of FOXE1 mRNA	23594881
D000077185	Resveratrol	Resveratrol results in decreased expression of FOXE1 mRNA	28668442
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FOXE1 mRNA	24058054
D014810	Vitamin E	Vitamin E results in decreased expression of FOXE1 mRNA	19244175

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0984	Congenital hypothyroidism
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR001766	Fork_head_dom
IPR018122	TF_fork_head_CS_1
IPR030456	TF_fork_head_CS_2
IPR036388	WH-like_DNA-bd_sf
IPR036390	WH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS00657	FORK_HEAD_1
PS00658	FORK_HEAD_2
PS50039	FORK_HEAD_3

Pfam

Pfam ID	Pfam Term
PF00250	Forkhead

Gene: FOXE1

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