CleftGeneDB-Search

Gene: FOXC2

Basic information

Tag	Content
Uniprot ID	Q99958; C6KMR9; Q14DA6;
Entrez ID	2303
Genbank protein ID	CAA69400.1; AAI13440.1; AAI13438.1; ACS83751.1;
Genbank nucleotide ID	NM_005251.2
Ensembl protein ID	ENSP00000497759
Ensembl nucleotide ID	ENSG00000176692
Gene name	Forkhead box protein C2
Gene symbol	FOXC2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcriptional activator. Might be involved in the formation of special mesenchymal tissues.
Sequence	MQARYSVSDP NALGVVPYLS EQNYYRAAGS YGGMASPMGV YSGHPEQYSA GMGRSYAPYH 60 HHQPAAPKDL VKPPYSYIAL ITMAIQNAPE KKITLNGIYQ FIMDRFPFYR ENKQGWQNSI 120 RHNLSLNECF VKVPRDDKKP GKGSYWTLDP DSYNMFENGS FLRRRRRFKK KDVSKEKEER 180 AHLKEPPPAA SKGAPATPHL ADAPKEAEKK VVIKSEAASP ALPVITKVET LSPESALQGS 240 PRSAASTPAG SPDGSLPEHH AAAPNGLPGF SVENIMTLRT SPPGGELSPG AGRAGLVVPP 300 LALPYAAAPP AAYGQPCAQG LEAGAAGGYQ CSMRAMSLYT GAERPAHMCV PPALDEALSD 360 HPSGPTSPLS ALNLAAGQEG ALAATGHHHQ HHGHHHPQAP PPPPAPQPQP TPQPGAAAAQ 420 AASWYLNHSG DLNHLPGHTF AAQQQTFPNV REMFNSHRLG IENSTLGESQ VSGNASCQLP 480 YRSTPPLYRH AAPYSYDCTK Y 501

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

PDB ID
1D5V
6AKO
6AKP
6O3T
6AKO
6AKP

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	FOXC2	102153219	E2QSH3			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	FOXC2		A0A452G0B1			Capra hircus	Prediction	More>>
1:1 ortholog	FOXC2	2303	Q99958			Homo sapiens	Prediction	More>>
1:1 ortholog	Foxc2	14234	Q61850	CPO	E11.5, E12.5	Mus musculus	Publication	More>>
1:1 ortholog	FOXC2	468058	H2RA05			Pan troglodytes	Prediction	More>>
1:1 ortholog	FOXC2		A0A287AFQ6			Sus scrofa	Prediction	More>>
1:1 ortholog	Foxc2	171356	Q63246			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1350455499	p.Ala3Thr	missense variant	-	NC_000016.10:g.86567342G>A	TOPMed
rs777692974	p.Arg4Gly	missense variant	-	NC_000016.10:g.86567345C>G	ExAC,gnomAD
rs751297772	p.Tyr5His	missense variant	-	NC_000016.10:g.86567348T>C	ExAC,gnomAD
rs757068832	p.Ser6Cys	missense variant	-	NC_000016.10:g.86567352C>G	ExAC,TOPMed,gnomAD
rs757068832	p.Ser6Phe	missense variant	-	NC_000016.10:g.86567352C>T	ExAC,TOPMed,gnomAD
rs745506389	p.Val7Ala	missense variant	-	NC_000016.10:g.86567355T>C	ExAC,TOPMed,gnomAD
rs1378523304	p.Val7Met	missense variant	-	NC_000016.10:g.86567354G>A	TOPMed
rs745506389	p.Val7Glu	missense variant	-	NC_000016.10:g.86567355T>A	ExAC,TOPMed,gnomAD
rs368190981	p.Ser8Pro	missense variant	-	NC_000016.10:g.86567357T>C	ESP,TOPMed,gnomAD
rs1489670636	p.Asp9Asn	missense variant	-	NC_000016.10:g.86567360G>A	TOPMed
rs1347856337	p.Pro10Thr	missense variant	-	NC_000016.10:g.86567363C>A	gnomAD
rs748819139	p.Asn11Ser	missense variant	-	NC_000016.10:g.86567367A>G	ExAC,TOPMed,gnomAD
rs772645050	p.Asn11Lys	missense variant	-	NC_000016.10:g.86567368C>A	ExAC,gnomAD
rs773874147	p.Ala12Val	missense variant	-	NC_000016.10:g.86567370C>T	ExAC,gnomAD
rs771389064	p.Gly14Glu	missense variant	-	NC_000016.10:g.86567376G>A	ExAC,TOPMed,gnomAD
rs761078483	p.Gly14Arg	missense variant	-	NC_000016.10:g.86567375G>A	ExAC,gnomAD
rs759789509	p.Val16Ala	missense variant	-	NC_000016.10:g.86567382T>C	ExAC,gnomAD
rs868242023	p.Ser20Arg	missense variant	-	NC_000016.10:g.86567395C>G	gnomAD
rs868242023	p.Ser20Arg	missense variant	-	NC_000016.10:g.86567395C>A	gnomAD
rs1471061675	p.Ser20Arg	missense variant	-	NC_000016.10:g.86567393A>C	gnomAD
rs762956420	p.Glu21Lys	missense variant	-	NC_000016.10:g.86567396G>A	ExAC,TOPMed,gnomAD
rs1391912153	p.Glu21Asp	missense variant	-	NC_000016.10:g.86567398G>C	TOPMed,gnomAD
rs763971152	p.Tyr24Phe	missense variant	-	NC_000016.10:g.86567406A>T	ExAC,gnomAD
rs1283340618	p.Tyr25Cys	missense variant	-	NC_000016.10:g.86567409A>G	gnomAD
rs757226662	p.Tyr25His	missense variant	-	NC_000016.10:g.86567408T>C	ExAC,TOPMed,gnomAD
rs780946825	p.Arg26Pro	missense variant	-	NC_000016.10:g.86567412G>C	ExAC
rs906672065	p.Ala27Pro	missense variant	-	NC_000016.10:g.86567414G>C	TOPMed
rs750245338	p.Ala28Pro	missense variant	-	NC_000016.10:g.86567417G>C	ExAC,gnomAD
rs755791847	p.Ala28Gly	missense variant	-	NC_000016.10:g.86567418C>G	ExAC,gnomAD
rs755791847	p.Ala28Val	missense variant	-	NC_000016.10:g.86567418C>T	ExAC,gnomAD
rs1253235893	p.Gly29Cys	missense variant	-	NC_000016.10:g.86567420G>T	gnomAD
rs1253235893	p.Gly29Ser	missense variant	-	NC_000016.10:g.86567420G>A	gnomAD
rs754563345	p.Gly29Asp	missense variant	-	NC_000016.10:g.86567421G>A	ExAC,gnomAD
rs778603144	p.Tyr31Cys	missense variant	-	NC_000016.10:g.86567427A>G	ExAC,gnomAD
rs747494903	p.Gly32Ser	missense variant	-	NC_000016.10:g.86567429G>A	ExAC,gnomAD
rs747494903	p.Gly32Cys	missense variant	-	NC_000016.10:g.86567429G>T	ExAC,gnomAD
rs1196954403	p.Gly33Val	missense variant	-	NC_000016.10:g.86567433G>T	gnomAD
rs1451472233	p.Met34Val	missense variant	-	NC_000016.10:g.86567435A>G	TOPMed
rs770000954	p.Met34Ile	missense variant	-	NC_000016.10:g.86567437G>A	ExAC,gnomAD
rs375555433	p.Ser36Asn	missense variant	-	NC_000016.10:g.86567442G>A	ESP,TOPMed,gnomAD
rs763049971	p.Pro37His	missense variant	-	NC_000016.10:g.86567445C>A	ExAC,TOPMed,gnomAD
rs1428990599	p.Pro37Ser	missense variant	-	NC_000016.10:g.86567444C>T	gnomAD
rs1346828342	p.Met38Val	missense variant	-	NC_000016.10:g.86567447A>G	gnomAD
rs1047951203	p.Met38Thr	missense variant	-	NC_000016.10:g.86567448T>C	TOPMed,gnomAD
RCV000735836	p.Tyr41Phe	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567457A>T	ClinVar
rs1043354227	p.Tyr41Ser	missense variant	-	NC_000016.10:g.86567457A>C	TOPMed,gnomAD
rs764129123	p.Tyr41His	missense variant	-	NC_000016.10:g.86567456T>C	ExAC,gnomAD
rs1043354227	p.Tyr41Cys	missense variant	-	NC_000016.10:g.86567457A>G	TOPMed,gnomAD
rs886775310	p.Ser42Ala	missense variant	-	NC_000016.10:g.86567459T>G	TOPMed
rs1007233011	p.Ser42Cys	missense variant	-	NC_000016.10:g.86567460C>G	TOPMed,gnomAD
rs1007233011	p.Ser42Phe	missense variant	-	NC_000016.10:g.86567460C>T	TOPMed,gnomAD
RCV000519605	p.His44Ter	frameshift	-	NC_000016.10:g.86567465del	ClinVar
rs199862001	p.Pro45Ser	missense variant	-	NC_000016.10:g.86567468C>T	ExAC,TOPMed,gnomAD
rs201393006	p.Pro45Gln	missense variant	-	NC_000016.10:g.86567469C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199862001	p.Pro45Thr	missense variant	-	NC_000016.10:g.86567468C>A	ExAC,TOPMed,gnomAD
rs201393006	p.Pro45Arg	missense variant	-	NC_000016.10:g.86567469C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201393006	p.Pro45Leu	missense variant	-	NC_000016.10:g.86567469C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1253918042	p.Gln47Pro	missense variant	-	NC_000016.10:g.86567475A>C	TOPMed
rs1332856745	p.Tyr48Cys	missense variant	-	NC_000016.10:g.86567478A>G	gnomAD
rs1490842923	p.Ser49Arg	missense variant	-	NC_000016.10:g.86567482C>A	gnomAD
rs1266887167	p.Ala50Gly	missense variant	-	NC_000016.10:g.86567484C>G	gnomAD
rs754723219	p.Ala50Thr	missense variant	-	NC_000016.10:g.86567483G>A	ExAC,gnomAD
rs778551960	p.Gly51Glu	missense variant	-	NC_000016.10:g.86567487G>A	ExAC,TOPMed,gnomAD
rs1195108332	p.Gly51Arg	missense variant	-	NC_000016.10:g.86567486G>A	gnomAD
rs747725530	p.Met52Val	missense variant	-	NC_000016.10:g.86567489A>G	ExAC,gnomAD
rs369098719	p.Arg54Gly	missense variant	-	NC_000016.10:g.86567495C>G	ESP,ExAC,gnomAD
rs746195395	p.Arg54Leu	missense variant	-	NC_000016.10:g.86567496G>T	ExAC,TOPMed,gnomAD
rs1292603160	p.Ser55Phe	missense variant	-	NC_000016.10:g.86567499C>T	gnomAD
rs140209790	p.Pro58Ser	missense variant	-	NC_000016.10:g.86567507C>T	ESP,ExAC,TOPMed,gnomAD
rs1026183412	p.Pro58His	missense variant	-	NC_000016.10:g.86567508C>A	TOPMed
rs1374904425	p.His60Asp	missense variant	-	NC_000016.10:g.86567513C>G	TOPMed
rs1316302915	p.His60Gln	missense variant	-	NC_000016.10:g.86567515C>A	gnomAD
rs1305839778	p.His61Pro	missense variant	-	NC_000016.10:g.86567517A>C	TOPMed,gnomAD
rs761890099	p.His62Gln	missense variant	-	NC_000016.10:g.86567521C>G	ExAC,TOPMed,gnomAD
rs369622966	p.Pro64Leu	missense variant	-	NC_000016.10:g.86567526C>T	ESP,ExAC,TOPMed,gnomAD
rs369622966	p.Pro64His	missense variant	-	NC_000016.10:g.86567526C>A	ESP,ExAC,TOPMed,gnomAD
rs369622966	p.Pro64Arg	missense variant	-	NC_000016.10:g.86567526C>G	ESP,ExAC,TOPMed,gnomAD
rs760703639	p.Ala65Thr	missense variant	-	NC_000016.10:g.86567528G>A	ExAC,TOPMed,gnomAD
rs1184166552	p.Ala66Val	missense variant	-	NC_000016.10:g.86567532C>T	gnomAD
rs1343401603	p.Pro67Leu	missense variant	-	NC_000016.10:g.86567535C>T	gnomAD
RCV000007676	p.Lys68Ter	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567535_86567536dup	ClinVar
rs778453612	p.Lys68Asn	missense variant	-	NC_000016.10:g.86567539G>T	gnomAD
rs1444609081	p.Asp69Glu	missense variant	-	NC_000016.10:g.86567542C>G	TOPMed
rs1163542176	p.Leu70Val	missense variant	-	NC_000016.10:g.86567543C>G	gnomAD
RCV000007675	p.Val71Ter	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567544dup	ClinVar
rs957867993	p.Tyr75Cys	missense variant	-	NC_000016.10:g.86567559A>G	gnomAD
rs750865152	p.Ala84Gly	missense variant	-	NC_000016.10:g.86567586C>G	ExAC,gnomAD
rs756695162	p.Gln86His	missense variant	-	NC_000016.10:g.86567593G>C	ExAC,gnomAD
rs374000899	p.Asn87Tyr	missense variant	-	NC_000016.10:g.86567594A>T	ESP,ExAC,gnomAD
rs1319701826	p.Ala88Ser	missense variant	-	NC_000016.10:g.86567597G>T	TOPMed
rs749722544	p.Ala88Val	missense variant	-	NC_000016.10:g.86567598C>T	ExAC,gnomAD
rs1482270020	p.Pro89Ser	missense variant	-	NC_000016.10:g.86567600C>T	TOPMed,gnomAD
rs779124969	p.Glu90Gln	missense variant	-	NC_000016.10:g.86567603G>C	ExAC
rs144326380	p.Lys92Thr	missense variant	-	NC_000016.10:g.86567610A>C	ESP,ExAC,TOPMed,gnomAD
rs144326380	p.Lys92Met	missense variant	-	NC_000016.10:g.86567610A>T	ESP,ExAC,TOPMed,gnomAD
rs1398022944	p.Lys92Gln	missense variant	-	NC_000016.10:g.86567609A>C	TOPMed
rs1469969788	p.Ile93Phe	missense variant	-	NC_000016.10:g.86567612A>T	gnomAD
rs926624500	p.Ile93Met	missense variant	-	NC_000016.10:g.86567614C>G	TOPMed
rs776500374	p.Ile93Asn	missense variant	-	NC_000016.10:g.86567613T>A	ExAC,gnomAD
RCV000007673	p.Gly97Ter	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567625_86567635del	ClinVar
rs371246110	p.Ile98Met	missense variant	-	NC_000016.10:g.86567629C>G	ESP,gnomAD
rs377509198	p.Ile98Val	missense variant	-	NC_000016.10:g.86567627A>G	ESP
RCV000007671	p.Tyr99Ter	nonsense	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567632C>G	ClinVar
rs104894516	p.Tyr99Ter	stop gained	-	NC_000016.10:g.86567632C>G	-
rs764933050	p.Gln100His	missense variant	-	NC_000016.10:g.86567635G>T	ExAC,gnomAD
rs1286507953	p.Met103Ile	missense variant	-	NC_000016.10:g.86567644G>A	gnomAD
rs752429537	p.Met103Val	missense variant	-	NC_000016.10:g.86567642A>G	ExAC,gnomAD
rs1411683549	p.Met103Thr	missense variant	-	NC_000016.10:g.86567643T>C	gnomAD
rs1171987648	p.Pro107Ala	missense variant	-	NC_000016.10:g.86567654C>G	gnomAD
rs763490810	p.Arg110Trp	missense variant	-	NC_000016.10:g.86567663C>T	ExAC,gnomAD
rs751140878	p.Glu111Asp	missense variant	-	NC_000016.10:g.86567668G>C	ExAC
rs1209374222	p.Gly115Asp	missense variant	-	NC_000016.10:g.86567679G>A	gnomAD
rs375500879	p.Ile120Val	missense variant	-	NC_000016.10:g.86567693A>G	ESP,ExAC,TOPMed
rs754147232	p.Ile120Thr	missense variant	-	NC_000016.10:g.86567694T>C	ExAC,gnomAD
RCV000735835	p.Arg121Cys	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567696C>T	ClinVar
RCV000007683	p.Arg121His	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567697G>A	ClinVar
rs121909107	p.Arg121His	missense variant	-	NC_000016.10:g.86567697G>A	-
rs779286561	p.Leu124Phe	missense variant	-	NC_000016.10:g.86567705C>T	ExAC,gnomAD
RCV000007682	p.Ser125Leu	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567709C>T	ClinVar
rs121909106	p.Ser125Leu	missense variant	-	NC_000016.10:g.86567709C>T	-
rs121909106	p.Ser125Leu	missense variant	Lymphedema-distichiasis syndrome (LPHDST)	NC_000016.10:g.86567709C>T	UniProt,dbSNP
VAR_018418	p.Ser125Leu	missense variant	Lymphedema-distichiasis syndrome (LPHDST)	NC_000016.10:g.86567709C>T	UniProt
rs1196341693	p.Val131Ile	missense variant	-	NC_000016.10:g.86567726G>A	TOPMed
rs777707890	p.Val133Met	missense variant	-	NC_000016.10:g.86567732G>A	ExAC,gnomAD
rs1432134486	p.Arg135Cys	missense variant	-	NC_000016.10:g.86567738C>T	gnomAD
rs1405787618	p.Asp136Glu	missense variant	-	NC_000016.10:g.86567743C>G	gnomAD
rs890746998	p.Asp137Tyr	missense variant	-	NC_000016.10:g.86567744G>T	gnomAD
rs759364638	p.Lys139Arg	missense variant	-	NC_000016.10:g.86567751A>G	ExAC,TOPMed,gnomAD
rs201833900	p.Pro140Leu	missense variant	-	NC_000016.10:g.86567754C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201833900	p.Pro140His	missense variant	-	NC_000016.10:g.86567754C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1202926077	p.Gly141Ser	missense variant	-	NC_000016.10:g.86567756G>A	gnomAD
rs1202926077	p.Gly141Cys	missense variant	-	NC_000016.10:g.86567756G>T	gnomAD
rs1490350851	p.Tyr145Ser	missense variant	-	NC_000016.10:g.86567769A>C	gnomAD
rs201189554	p.Thr147Ile	missense variant	-	NC_000016.10:g.86567775C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1271328094	p.Asp149Glu	missense variant	-	NC_000016.10:g.86567782C>A	gnomAD
rs766826259	p.Asp149His	missense variant	-	NC_000016.10:g.86567780G>C	ExAC,TOPMed,gnomAD
rs543303165	p.Asn154Ser	missense variant	-	NC_000016.10:g.86567796A>G	ExAC,gnomAD
rs563038940	p.Glu157Asp	missense variant	-	NC_000016.10:g.86567806G>C	1000Genomes,ExAC,gnomAD
rs758480988	p.Arg163Gln	missense variant	-	NC_000016.10:g.86567823G>A	ExAC,gnomAD
rs1362663306	p.Arg165Gln	missense variant	-	NC_000016.10:g.86567829G>A	TOPMed
rs747011789	p.Lys170Arg	missense variant	-	NC_000016.10:g.86567844A>G	ExAC,TOPMed,gnomAD
RCV000007678	p.Lys170Ter	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567844del	ClinVar
rs1009368067	p.Asp172Asn	missense variant	-	NC_000016.10:g.86567849G>A	TOPMed,gnomAD
rs868831268	p.Val173Met	missense variant	-	NC_000016.10:g.86567852G>A	gnomAD
rs868831268	p.Val173Leu	missense variant	-	NC_000016.10:g.86567852G>T	gnomAD
rs781462601	p.Ser174Phe	missense variant	-	NC_000016.10:g.86567856C>T	ExAC,gnomAD
rs970711015	p.Lys175Arg	missense variant	-	NC_000016.10:g.86567859A>G	TOPMed,gnomAD
rs970711015	p.Lys175Met	missense variant	-	NC_000016.10:g.86567859A>T	TOPMed,gnomAD
rs745779118	p.Glu176Lys	missense variant	-	NC_000016.10:g.86567861G>A	ExAC,TOPMed,gnomAD
rs1216049569	p.Lys177Glu	missense variant	-	NC_000016.10:g.86567864A>G	gnomAD
rs199924880	p.Lys177Arg	missense variant	-	NC_000016.10:g.86567865A>G	1000Genomes,ExAC,gnomAD
rs1466498639	p.Lys177Asn	missense variant	-	NC_000016.10:g.86567866G>C	TOPMed,gnomAD
rs1187254177	p.Glu178Lys	missense variant	-	NC_000016.10:g.86567867G>A	gnomAD
rs370541542	p.Glu179Lys	missense variant	-	NC_000016.10:g.86567870G>A	ESP,ExAC,TOPMed,gnomAD
rs370541542	p.Glu179Gln	missense variant	-	NC_000016.10:g.86567870G>C	ESP,ExAC,TOPMed,gnomAD
rs1473396239	p.Glu179Gly	missense variant	-	NC_000016.10:g.86567871A>G	TOPMed,gnomAD
rs774078804	p.Arg180Gln	missense variant	-	NC_000016.10:g.86567874G>A	ExAC,TOPMed,gnomAD
rs545598387	p.Arg180Trp	missense variant	-	NC_000016.10:g.86567873C>T	1000Genomes,ExAC,gnomAD
rs774078804	p.Arg180Pro	missense variant	-	NC_000016.10:g.86567874G>C	ExAC,TOPMed,gnomAD
rs201924901	p.His182Asp	missense variant	-	NC_000016.10:g.86567879C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201027957	p.Leu183Arg	missense variant	-	NC_000016.10:g.86567883T>G	1000Genomes
rs202085650	p.Leu183Val	missense variant	-	NC_000016.10:g.86567882C>G	TOPMed,gnomAD
rs765735196	p.Glu185Lys	missense variant	-	NC_000016.10:g.86567888G>A	ExAC
rs1281980227	p.Pro187Ala	missense variant	-	NC_000016.10:g.86567894C>G	gnomAD
rs1281980227	p.Pro187Ser	missense variant	-	NC_000016.10:g.86567894C>T	gnomAD
rs752945180	p.Pro187His	missense variant	-	NC_000016.10:g.86567895C>A	ExAC,gnomAD
rs764181783	p.Pro188Ala	missense variant	-	NC_000016.10:g.86567897C>G	ExAC,TOPMed,gnomAD
rs751774927	p.Pro188Gln	missense variant	-	NC_000016.10:g.86567898C>A	ExAC,TOPMed,gnomAD
rs751774927	p.Pro188Leu	missense variant	-	NC_000016.10:g.86567898C>T	ExAC,TOPMed,gnomAD
rs746013945	p.Ala189Thr	missense variant	-	NC_000016.10:g.86567900G>A	ExAC,gnomAD
rs200483763	p.Ala189Glu	missense variant	-	NC_000016.10:g.86567901C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200483763	p.Ala189Val	missense variant	-	NC_000016.10:g.86567901C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1190156347	p.Ala190Val	missense variant	-	NC_000016.10:g.86567904C>T	gnomAD
rs1472483560	p.Ser191Thr	missense variant	-	NC_000016.10:g.86567906T>A	gnomAD
rs78018668	p.Ser191Phe	missense variant	-	NC_000016.10:g.86567907C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748990709	p.Lys192Arg	missense variant	-	NC_000016.10:g.86567910A>G	ExAC,TOPMed,gnomAD
rs768532058	p.Gly193Ser	missense variant	-	NC_000016.10:g.86567912G>A	ExAC
rs774058810	p.Gly193Asp	missense variant	-	NC_000016.10:g.86567913G>A	ExAC,gnomAD
rs747819833	p.Ala194Ser	missense variant	-	NC_000016.10:g.86567915G>T	ExAC,TOPMed,gnomAD
rs771775997	p.Ala194Val	missense variant	-	NC_000016.10:g.86567916C>T	ExAC,TOPMed,gnomAD
rs200751941	p.Pro195Ser	missense variant	-	NC_000016.10:g.86567918C>T	ExAC,TOPMed,gnomAD
rs200751941	p.Pro195Ala	missense variant	-	NC_000016.10:g.86567918C>G	ExAC,TOPMed,gnomAD
rs1339388976	p.Pro195Arg	missense variant	-	NC_000016.10:g.86567919C>G	gnomAD
rs1039275268	p.Thr197Asn	missense variant	-	NC_000016.10:g.86567925C>A	TOPMed,gnomAD
RCV000007677	p.Thr197Ter	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567923dup	ClinVar
rs1039275268	p.Thr197Ile	missense variant	-	NC_000016.10:g.86567925C>T	TOPMed,gnomAD
rs763401027	p.His199Tyr	missense variant	-	NC_000016.10:g.86567930C>T	ExAC,gnomAD
rs764469563	p.Ala201Val	missense variant	-	NC_000016.10:g.86567937C>T	ExAC,TOPMed,gnomAD
rs201456476	p.Asp202Ala	missense variant	-	NC_000016.10:g.86567940A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs550350665	p.Asp202Asn	missense variant	-	NC_000016.10:g.86567939G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750515811	p.Ala203Thr	missense variant	-	NC_000016.10:g.86567942G>A	ExAC,gnomAD
rs756307803	p.Ala203Asp	missense variant	-	NC_000016.10:g.86567943C>A	ExAC,TOPMed,gnomAD
rs750515811	p.Ala203Ser	missense variant	-	NC_000016.10:g.86567942G>T	ExAC,gnomAD
rs779821571	p.Pro204Ala	missense variant	-	NC_000016.10:g.86567945C>G	ExAC,TOPMed,gnomAD
rs779821571	p.Pro204Ser	missense variant	-	NC_000016.10:g.86567945C>T	ExAC,TOPMed,gnomAD
rs200766961	p.Lys205Met	missense variant	-	NC_000016.10:g.86567949A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200766961	p.Lys205Thr	missense variant	-	NC_000016.10:g.86567949A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1377994021	p.Lys205Asn	missense variant	-	NC_000016.10:g.86567950G>T	gnomAD
rs1467345739	p.Ala207Thr	missense variant	-	NC_000016.10:g.86567954G>A	gnomAD
rs1401459395	p.Glu208Lys	missense variant	-	NC_000016.10:g.86567957G>A	gnomAD
rs778706674	p.Glu208Ala	missense variant	-	NC_000016.10:g.86567958A>C	ExAC,TOPMed
rs771702369	p.Lys209Met	missense variant	-	NC_000016.10:g.86567961A>T	ExAC,gnomAD
rs1408848042	p.Val211Met	missense variant	-	NC_000016.10:g.86567966G>A	gnomAD
rs201895173	p.Val212Met	missense variant	-	NC_000016.10:g.86567969G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1209688318	p.Ile213Met	missense variant	-	NC_000016.10:g.86567974C>G	TOPMed
rs901535122	p.Ile213Val	missense variant	-	NC_000016.10:g.86567972A>G	TOPMed,gnomAD
rs1440851843	p.Lys214Met	missense variant	-	NC_000016.10:g.86567976A>T	TOPMed
rs776026772	p.Ala217Val	missense variant	-	NC_000016.10:g.86567985C>T	ExAC,gnomAD
rs1201456058	p.Ala217Thr	missense variant	-	NC_000016.10:g.86567984G>A	TOPMed
rs763459418	p.Ala218Ser	missense variant	-	NC_000016.10:g.86567987G>T	ExAC,gnomAD
rs1276920391	p.Ala221Val	missense variant	-	NC_000016.10:g.86567997C>T	TOPMed
rs769046093	p.Ala221Thr	missense variant	-	NC_000016.10:g.86567996G>A	ExAC,gnomAD
rs1435098450	p.Pro223Leu	missense variant	-	NC_000016.10:g.86568003C>T	TOPMed,gnomAD
rs1376845781	p.Val224Ile	missense variant	-	NC_000016.10:g.86568005G>A	TOPMed,gnomAD
rs1376845781	p.Val224Leu	missense variant	-	NC_000016.10:g.86568005G>C	TOPMed,gnomAD
rs1450022946	p.Thr226Ala	missense variant	-	NC_000016.10:g.86568011A>G	gnomAD
rs1428482010	p.Thr230Lys	missense variant	-	NC_000016.10:g.86568024C>A	gnomAD
rs762323283	p.Thr230Ala	missense variant	-	NC_000016.10:g.86568023A>G	ExAC,TOPMed,gnomAD
rs762323283	p.Thr230Ser	missense variant	-	NC_000016.10:g.86568023A>T	ExAC,TOPMed,gnomAD
rs200039004	p.Ser232Asn	missense variant	-	NC_000016.10:g.86568030G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1392479190	p.Glu234Gly	missense variant	-	NC_000016.10:g.86568036A>G	gnomAD
rs1464942205	p.Ala236Val	missense variant	-	NC_000016.10:g.86568042C>T	TOPMed
rs1384708266	p.Ala236Thr	missense variant	-	NC_000016.10:g.86568041G>A	gnomAD
RCV000627280	p.Gln238Ter	nonsense	-	NC_000016.10:g.86568047C>T	ClinVar
rs1555531333	p.Gln238Ter	stop gained	-	NC_000016.10:g.86568047C>T	-
rs1006060857	p.Ser240Arg	missense variant	-	NC_000016.10:g.86568055C>G	TOPMed,gnomAD
rs761004935	p.Pro241Thr	missense variant	-	NC_000016.10:g.86568056C>A	ExAC,gnomAD
rs1022844166	p.Arg242Ser	missense variant	-	NC_000016.10:g.86568059C>A	TOPMed,gnomAD
rs1022844166	p.Arg242Cys	missense variant	-	NC_000016.10:g.86568059C>T	TOPMed,gnomAD
rs994829679	p.Arg242Pro	missense variant	-	NC_000016.10:g.86568060G>C	TOPMed,gnomAD
rs1239476762	p.Ser243Gly	missense variant	-	NC_000016.10:g.86568062A>G	TOPMed
rs1028065850	p.Ala245Asp	missense variant	-	NC_000016.10:g.86568069C>A	gnomAD
rs766428637	p.Ser246Cys	missense variant	-	NC_000016.10:g.86568072C>G	ExAC,gnomAD
rs754943026	p.Ala249Asp	missense variant	-	NC_000016.10:g.86568081C>A	ExAC,TOPMed,gnomAD
rs1465151906	p.Ser251Cys	missense variant	-	NC_000016.10:g.86568087C>G	TOPMed,gnomAD
rs1465151906	p.Ser251Phe	missense variant	-	NC_000016.10:g.86568087C>T	TOPMed,gnomAD
rs1190454093	p.Pro252Leu	missense variant	-	NC_000016.10:g.86568090C>T	gnomAD
rs778776008	p.Gly254Val	missense variant	-	NC_000016.10:g.86568096G>T	ExAC,TOPMed,gnomAD
rs966178183	p.Gly254Ser	missense variant	-	NC_000016.10:g.86568095G>A	TOPMed,gnomAD
rs922145263	p.Pro257Leu	missense variant	-	NC_000016.10:g.86568105C>T	TOPMed,gnomAD
rs922145263	p.Pro257Gln	missense variant	-	NC_000016.10:g.86568105C>A	TOPMed,gnomAD
rs922145263	p.Pro257Arg	missense variant	-	NC_000016.10:g.86568105C>G	TOPMed,gnomAD
rs1369678305	p.Glu258Asp	missense variant	-	NC_000016.10:g.86568109G>T	gnomAD
rs1333050328	p.Glu258Gly	missense variant	-	NC_000016.10:g.86568108A>G	TOPMed
rs752469815	p.His259Arg	missense variant	-	NC_000016.10:g.86568111A>G	ExAC,gnomAD
rs960751517	p.His260Tyr	missense variant	-	NC_000016.10:g.86568113C>T	TOPMed,gnomAD
rs758231887	p.Ala262Val	missense variant	-	NC_000016.10:g.86568120C>T	ExAC,gnomAD
rs758231887	p.Ala262Glu	missense variant	-	NC_000016.10:g.86568120C>A	ExAC,gnomAD
rs1394244388	p.Ala263Glu	missense variant	-	NC_000016.10:g.86568123C>A	gnomAD
rs1349299361	p.Ala263Thr	missense variant	-	NC_000016.10:g.86568122G>A	TOPMed
rs1162566582	p.Pro264Ala	missense variant	-	NC_000016.10:g.86568125C>G	TOPMed
rs988595499	p.Asn265Ser	missense variant	-	NC_000016.10:g.86568129A>G	TOPMed,gnomAD
rs777576591	p.Asn265Lys	missense variant	-	NC_000016.10:g.86568130C>G	ExAC,TOPMed,gnomAD
rs1363730825	p.Leu267Met	missense variant	-	NC_000016.10:g.86568134C>A	gnomAD
rs968140048	p.Pro268Ser	missense variant	-	NC_000016.10:g.86568137C>T	TOPMed,gnomAD
rs979559644	p.Phe270Leu	missense variant	-	NC_000016.10:g.86568143T>C	TOPMed,gnomAD
rs979559644	p.Phe270Val	missense variant	-	NC_000016.10:g.86568143T>G	TOPMed,gnomAD
rs1272731899	p.Val272Met	missense variant	-	NC_000016.10:g.86568149G>A	gnomAD
rs1246678866	p.Glu273Asp	missense variant	-	NC_000016.10:g.86568154G>C	TOPMed
rs1219975273	p.Asn274Lys	missense variant	-	NC_000016.10:g.86568157C>G	TOPMed
rs1323021497	p.Ile275Met	missense variant	-	NC_000016.10:g.86568160C>G	TOPMed
rs910751353	p.Met276Arg	missense variant	-	NC_000016.10:g.86568162T>G	TOPMed
rs1238997285	p.Met276Ile	missense variant	-	NC_000016.10:g.86568163G>A	TOPMed
rs746615192	p.Leu278Val	missense variant	-	NC_000016.10:g.86568167C>G	ExAC,TOPMed,gnomAD
rs1210395820	p.Arg279Ter	stop gained	-	NC_000016.10:g.86568170C>T	TOPMed,gnomAD
rs1464430777	p.Ser281Ter	stop gained	-	NC_000016.10:g.86568177C>A	gnomAD
rs1421499933	p.Pro282Leu	missense variant	-	NC_000016.10:g.86568180C>T	gnomAD
rs1257663796	p.Pro282Ser	missense variant	-	NC_000016.10:g.86568179C>T	gnomAD
rs1412308334	p.Pro283Leu	missense variant	-	NC_000016.10:g.86568183C>T	TOPMed,gnomAD
rs1438469067	p.Gly284Ala	missense variant	-	NC_000016.10:g.86568186G>C	TOPMed
rs780685080	p.Gly284Ser	missense variant	-	NC_000016.10:g.86568185G>A	ExAC,gnomAD
rs976382789	p.Gly285Arg	missense variant	-	NC_000016.10:g.86568188G>A	TOPMed,gnomAD
rs745434990	p.Glu286Gly	missense variant	-	NC_000016.10:g.86568192A>G	ExAC,TOPMed,gnomAD
rs1303899730	p.Pro289Thr	missense variant	-	NC_000016.10:g.86568200C>A	gnomAD
rs769190596	p.Ala291Thr	missense variant	-	NC_000016.10:g.86568206G>A	ExAC,TOPMed,gnomAD
rs1351403449	p.Gly292Arg	missense variant	-	NC_000016.10:g.86568209G>A	TOPMed,gnomAD
rs1267050345	p.Arg293Gly	missense variant	-	NC_000016.10:g.86568212C>G	TOPMed
rs1266019903	p.Gly295Asp	missense variant	-	NC_000016.10:g.86568219G>A	gnomAD
rs774767014	p.Gly295Ser	missense variant	-	NC_000016.10:g.86568218G>A	ExAC,TOPMed,gnomAD
rs1047896062	p.Val297Met	missense variant	-	NC_000016.10:g.86568224G>A	TOPMed
rs941794556	p.Val298Met	missense variant	-	NC_000016.10:g.86568227G>A	TOPMed
rs1251895222	p.Pro299Ser	missense variant	-	NC_000016.10:g.86568230C>T	gnomAD
rs1239256942	p.Pro299Arg	missense variant	-	NC_000016.10:g.86568231C>G	TOPMed
rs1044231546	p.Pro300Ser	missense variant	-	NC_000016.10:g.86568233C>T	TOPMed
rs1220883472	p.Leu301Val	missense variant	-	NC_000016.10:g.86568236C>G	TOPMed
RCV000627628	p.Leu301Ter	frameshift	-	NC_000016.10:g.86568237_86568258del	ClinVar
rs1179487781	p.Ala302Gly	missense variant	-	NC_000016.10:g.86568240C>G	TOPMed,gnomAD
rs1179487781	p.Ala302Glu	missense variant	-	NC_000016.10:g.86568240C>A	TOPMed,gnomAD
rs1410259766	p.Leu303Met	missense variant	-	NC_000016.10:g.86568242C>A	TOPMed,gnomAD
rs905712433	p.Pro304Ser	missense variant	-	NC_000016.10:g.86568245C>T	TOPMed,gnomAD
RCV000007679	p.Tyr305Ter	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86568249_86568256del	ClinVar
rs1300305973	p.Ala306Val	missense variant	-	NC_000016.10:g.86568252C>T	TOPMed
rs1377437893	p.Pro309Leu	missense variant	-	NC_000016.10:g.86568261C>T	TOPMed
rs760918154	p.Gly314Asp	missense variant	-	NC_000016.10:g.86568276G>A	ExAC,TOPMed,gnomAD
rs1430533990	p.Cys317Ser	missense variant	-	NC_000016.10:g.86568284T>A	TOPMed,gnomAD
rs1430533990	p.Cys317Arg	missense variant	-	NC_000016.10:g.86568284T>C	TOPMed,gnomAD
rs1482689345	p.Ala318Val	missense variant	-	NC_000016.10:g.86568288C>T	TOPMed
rs1009564783	p.Gln319Lys	missense variant	-	NC_000016.10:g.86568290C>A	TOPMed,gnomAD
rs1323948950	p.Gly320Asp	missense variant	-	NC_000016.10:g.86568294G>A	TOPMed
rs1170888894	p.Leu321Pro	missense variant	-	NC_000016.10:g.86568297T>C	TOPMed,gnomAD
rs1401659559	p.Glu322Lys	missense variant	-	NC_000016.10:g.86568299G>A	gnomAD
rs968089550	p.Ala323Ser	missense variant	-	NC_000016.10:g.86568302G>T	TOPMed,gnomAD
rs776762340	p.Gly324Trp	missense variant	-	NC_000016.10:g.86568305G>T	ExAC,TOPMed,gnomAD
rs776762340	p.Gly324Arg	missense variant	-	NC_000016.10:g.86568305G>C	ExAC,TOPMed,gnomAD
rs1382835650	p.Ala325Val	missense variant	-	NC_000016.10:g.86568309C>T	TOPMed
rs759586263	p.Ala326Gly	missense variant	-	NC_000016.10:g.86568312C>G	ExAC,TOPMed,gnomAD
rs1210002465	p.Ala326Thr	missense variant	-	NC_000016.10:g.86568311G>A	gnomAD
rs868505894	p.Gly327Arg	missense variant	-	NC_000016.10:g.86568314G>A	TOPMed,gnomAD
rs868505894	p.Gly327Trp	missense variant	-	NC_000016.10:g.86568314G>T	TOPMed,gnomAD
rs868505894	p.Gly327Arg	missense variant	-	NC_000016.10:g.86568314G>C	TOPMed,gnomAD
rs752592638	p.Gly328Asp	missense variant	-	NC_000016.10:g.86568318G>A	ExAC,gnomAD
rs1170640079	p.Tyr329Cys	missense variant	-	NC_000016.10:g.86568321A>G	TOPMed
rs758354851	p.Gln330His	missense variant	-	NC_000016.10:g.86568325G>T	ExAC,gnomAD
RCV000309850	p.Gln330Ter	frameshift	-	NC_000016.10:g.86568323dup	ClinVar
rs1192200588	p.Gln330Lys	missense variant	-	NC_000016.10:g.86568323C>A	gnomAD
RCV000627503	p.Met333Ter	frameshift	-	NC_000016.10:g.86568313_86568331dup	ClinVar
rs1173486305	p.Met333Ile	missense variant	-	NC_000016.10:g.86568334G>A	TOPMed,gnomAD
rs763817998	p.Met336Leu	missense variant	-	NC_000016.10:g.86568341A>T	ExAC,TOPMed,gnomAD
RCV000007680	p.Met336Ter	frameshift	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	NC_000016.10:g.86568341dup	ClinVar
rs1306238427	p.Met336Ile	missense variant	-	NC_000016.10:g.86568343G>A	gnomAD
rs1422722043	p.Ser337Thr	missense variant	-	NC_000016.10:g.86568345G>C	TOPMed
rs1354235799	p.Ser337Gly	missense variant	-	NC_000016.10:g.86568344A>G	gnomAD
rs1233518712	p.Thr340Ser	missense variant	-	NC_000016.10:g.86568354C>G	gnomAD
rs756928540	p.Thr340Ser	missense variant	-	NC_000016.10:g.86568353A>T	ExAC,gnomAD
rs1235420981	p.Gly341Ala	missense variant	-	NC_000016.10:g.86568357G>C	gnomAD
rs780764049	p.Gly341Trp	missense variant	-	NC_000016.10:g.86568356G>T	ExAC,gnomAD
rs780764049	p.Gly341Arg	missense variant	-	NC_000016.10:g.86568356G>A	ExAC,gnomAD
rs745358132	p.Ala342Thr	missense variant	-	NC_000016.10:g.86568359G>A	ExAC,TOPMed,gnomAD
rs1223233551	p.Glu343Lys	missense variant	-	NC_000016.10:g.86568362G>A	gnomAD
rs983131324	p.Arg344Gln	missense variant	-	NC_000016.10:g.86568366G>A	TOPMed,gnomAD
rs867975151	p.Met348Ile	missense variant	-	NC_000016.10:g.86568379G>T	TOPMed
rs867975151	p.Met348Ile	missense variant	-	NC_000016.10:g.86568379G>A	TOPMed
rs1228298677	p.Cys349Phe	missense variant	-	NC_000016.10:g.86568381G>T	TOPMed
rs1193581033	p.Val350Ile	missense variant	-	NC_000016.10:g.86568383G>A	gnomAD
rs1249241018	p.Pro351Leu	missense variant	-	NC_000016.10:g.86568387C>T	gnomAD
rs1166855831	p.Pro352Ser	missense variant	-	NC_000016.10:g.86568389C>T	gnomAD
rs1166855831	p.Pro352Ala	missense variant	-	NC_000016.10:g.86568389C>G	gnomAD
rs1418820069	p.Ala353Val	missense variant	-	NC_000016.10:g.86568393C>T	gnomAD
rs1406176865	p.Leu354Val	missense variant	-	NC_000016.10:g.86568395C>G	gnomAD
rs1167129101	p.Glu356Gly	missense variant	-	NC_000016.10:g.86568402A>G	gnomAD
rs1339925147	p.Ala357Ser	missense variant	-	NC_000016.10:g.86568404G>T	TOPMed
rs1320939868	p.Pro362Arg	missense variant	-	NC_000016.10:g.86568420C>G	gnomAD
rs1367357869	p.Gly364Cys	missense variant	-	NC_000016.10:g.86568425G>T	TOPMed,gnomAD
rs908900424	p.Pro365Ser	missense variant	-	NC_000016.10:g.86568428C>T	TOPMed,gnomAD
RCV000007672	p.Pro365Ter	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86568425_86568428dup	ClinVar
rs1403166908	p.Thr366Lys	missense variant	-	NC_000016.10:g.86568432C>A	TOPMed
rs1287245595	p.Ser367Pro	missense variant	-	NC_000016.10:g.86568434T>C	TOPMed,gnomAD
rs1213502441	p.Pro368Thr	missense variant	-	NC_000016.10:g.86568437C>A	gnomAD
rs1435412168	p.Pro368Leu	missense variant	-	NC_000016.10:g.86568438C>T	TOPMed,gnomAD
rs1213502441	p.Pro368Ser	missense variant	-	NC_000016.10:g.86568437C>T	gnomAD
rs1269147501	p.Leu369Val	missense variant	-	NC_000016.10:g.86568440C>G	TOPMed,gnomAD
rs747439511	p.Ser370Thr	missense variant	-	NC_000016.10:g.86568444G>C	ExAC,TOPMed,gnomAD
rs773710853	p.Ser370Gly	missense variant	-	NC_000016.10:g.86568443A>G	ExAC,gnomAD
rs1197426916	p.Ser370Arg	missense variant	-	NC_000016.10:g.86568445C>A	TOPMed,gnomAD
rs1241625240	p.Ala371Thr	missense variant	-	NC_000016.10:g.86568446G>A	TOPMed,gnomAD
rs1241625240	p.Ala371Ser	missense variant	-	NC_000016.10:g.86568446G>T	TOPMed,gnomAD
rs771164168	p.Leu372Phe	missense variant	-	NC_000016.10:g.86568449C>T	ExAC,TOPMed,gnomAD
rs771164168	p.Leu372Ile	missense variant	-	NC_000016.10:g.86568449C>A	ExAC,TOPMed,gnomAD
rs1360506564	p.Leu374Phe	missense variant	-	NC_000016.10:g.86568455C>T	TOPMed
rs1183648984	p.Ala375Gly	missense variant	-	NC_000016.10:g.86568459C>G	gnomAD
rs1057393385	p.Ala376Val	missense variant	-	NC_000016.10:g.86568462C>T	TOPMed
rs1461111009	p.Gly377Arg	missense variant	-	NC_000016.10:g.86568464G>C	gnomAD
rs1461111009	p.Gly377Ser	missense variant	-	NC_000016.10:g.86568464G>A	gnomAD
rs1330171380	p.Glu379Asp	missense variant	-	NC_000016.10:g.86568472G>C	TOPMed
rs1390495096	p.Glu379Gly	missense variant	-	NC_000016.10:g.86568471A>G	TOPMed,gnomAD
rs759834655	p.Glu379Gln	missense variant	-	NC_000016.10:g.86568470G>C	ExAC
rs1455584938	p.Gly380Ser	missense variant	-	NC_000016.10:g.86568473G>A	gnomAD
rs1340575651	p.Leu382Pro	missense variant	-	NC_000016.10:g.86568480T>C	gnomAD
rs1010596302	p.Ala383Thr	missense variant	-	NC_000016.10:g.86568482G>A	TOPMed,gnomAD
rs1228560228	p.Ala384Val	missense variant	-	NC_000016.10:g.86568486C>T	gnomAD
rs1354501421	p.Ala384Ser	missense variant	-	NC_000016.10:g.86568485G>T	gnomAD
rs1042375406	p.Thr385Arg	missense variant	-	NC_000016.10:g.86568489C>G	TOPMed,gnomAD
rs1198087251	p.Gly386Asp	missense variant	-	NC_000016.10:g.86568492G>A	TOPMed
rs1299156933	p.His388Tyr	missense variant	-	NC_000016.10:g.86568497C>T	TOPMed,gnomAD
rs1285634846	p.His389Gln	missense variant	-	NC_000016.10:g.86568502C>A	TOPMed
rs1443463305	p.Gly393Cys	missense variant	-	NC_000016.10:g.86568512G>T	gnomAD
rs1353324793	p.Pro400Leu	missense variant	-	NC_000016.10:g.86568534C>T	TOPMed
rs1402873848	p.Pro402Ser	missense variant	-	NC_000016.10:g.86568539C>T	TOPMed,gnomAD
RCV000735837	p.Pro402Leu	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86568540C>T	ClinVar
rs1402873848	p.Pro402Thr	missense variant	-	NC_000016.10:g.86568539C>A	TOPMed,gnomAD
rs1329928295	p.Pro403Ser	missense variant	-	NC_000016.10:g.86568542C>T	TOPMed
rs1416097444	p.Pro403Leu	missense variant	-	NC_000016.10:g.86568543C>T	gnomAD
rs1310555466	p.Pro404Ser	missense variant	-	NC_000016.10:g.86568545C>T	gnomAD
rs1410085923	p.Ala405Pro	missense variant	-	NC_000016.10:g.86568548G>C	gnomAD
rs775561441	p.Pro406Thr	missense variant	-	NC_000016.10:g.86568551C>A	ExAC,TOPMed,gnomAD
rs1279329187	p.Gln407His	missense variant	-	NC_000016.10:g.86568556G>C	gnomAD
rs751340831	p.Pro410Leu	missense variant	-	NC_000016.10:g.86568564C>T	ExAC,gnomAD
rs1295998755	p.Pro410Ala	missense variant	-	NC_000016.10:g.86568563C>G	TOPMed
rs1276159116	p.Pro412Leu	missense variant	-	NC_000016.10:g.86568570C>T	gnomAD
rs1206170618	p.Pro414Leu	missense variant	-	NC_000016.10:g.86568576C>T	gnomAD
rs868817257	p.Gly415Arg	missense variant	-	NC_000016.10:g.86568578G>A	TOPMed,gnomAD
rs868817257	p.Gly415Arg	missense variant	-	NC_000016.10:g.86568578G>C	TOPMed,gnomAD
rs1478970651	p.Ala417Pro	missense variant	-	NC_000016.10:g.86568584G>C	TOPMed,gnomAD
rs1478970651	p.Ala417Thr	missense variant	-	NC_000016.10:g.86568584G>A	TOPMed,gnomAD
rs1393979699	p.Ala419Val	missense variant	-	NC_000016.10:g.86568591C>T	gnomAD
rs755810324	p.Gln420His	missense variant	-	NC_000016.10:g.86568595G>T	ExAC,gnomAD
RCV000735838	p.Gln420Ter	nonsense	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86568593C>T	ClinVar
rs1393961998	p.Ala421Thr	missense variant	-	NC_000016.10:g.86568596G>A	gnomAD
rs200408083	p.Ala422Val	missense variant	-	NC_000016.10:g.86568600C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200408083	p.Ala422Gly	missense variant	-	NC_000016.10:g.86568600C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1331977613	p.Ser423Cys	missense variant	-	NC_000016.10:g.86568603C>G	gnomAD
rs1328614353	p.Ser423Pro	missense variant	-	NC_000016.10:g.86568602T>C	gnomAD
rs1301819465	p.Trp424Cys	missense variant	-	NC_000016.10:g.86568607G>T	gnomAD
rs1347765098	p.Leu426Phe	missense variant	-	NC_000016.10:g.86568611C>T	gnomAD
rs758964697	p.Asn427Ser	missense variant	-	NC_000016.10:g.86568615A>G	ExAC,TOPMed,gnomAD
rs778476389	p.Asn427Lys	missense variant	-	NC_000016.10:g.86568616C>A	ExAC,gnomAD
rs771161631	p.His428Arg	missense variant	-	NC_000016.10:g.86568618A>G	ExAC,gnomAD
rs747371262	p.His428Tyr	missense variant	-	NC_000016.10:g.86568617C>T	ExAC,gnomAD
rs375372556	p.Ser429Ile	missense variant	-	NC_000016.10:g.86568621G>T	ESP,ExAC,TOPMed,gnomAD
rs375372556	p.Ser429Thr	missense variant	-	NC_000016.10:g.86568621G>C	ESP,ExAC,TOPMed,gnomAD
rs1453065977	p.Ser429Arg	missense variant	-	NC_000016.10:g.86568620A>C	gnomAD
rs746020712	p.Ser429Arg	missense variant	-	NC_000016.10:g.86568622C>G	ExAC,gnomAD
rs770009370	p.Gly430Glu	missense variant	-	NC_000016.10:g.86568624G>A	ExAC
rs1169998210	p.Leu432Val	missense variant	-	NC_000016.10:g.86568629C>G	TOPMed,gnomAD
rs1370781346	p.Asn433Ser	missense variant	-	NC_000016.10:g.86568633A>G	gnomAD
rs1224621278	p.His434Arg	missense variant	-	NC_000016.10:g.86568636A>G	TOPMed
rs1443635063	p.Leu435Pro	missense variant	-	NC_000016.10:g.86568639T>C	gnomAD
rs1391935424	p.Leu435Phe	missense variant	-	NC_000016.10:g.86568638C>T	gnomAD
rs1370998204	p.Pro436Ser	missense variant	-	NC_000016.10:g.86568641C>T	TOPMed,gnomAD
rs768556399	p.Pro436Leu	missense variant	-	NC_000016.10:g.86568642C>T	ExAC,TOPMed,gnomAD
rs768556399	p.Pro436His	missense variant	-	NC_000016.10:g.86568642C>A	ExAC,TOPMed,gnomAD
rs768556399	p.Pro436Arg	missense variant	-	NC_000016.10:g.86568642C>G	ExAC,TOPMed,gnomAD
rs761837862	p.His438Leu	missense variant	-	NC_000016.10:g.86568648A>T	ExAC,gnomAD
rs1324719876	p.His438Tyr	missense variant	-	NC_000016.10:g.86568647C>T	gnomAD
rs1266309492	p.Thr439Arg	missense variant	-	NC_000016.10:g.86568651C>G	TOPMed,gnomAD
rs1266309492	p.Thr439Lys	missense variant	-	NC_000016.10:g.86568651C>A	TOPMed,gnomAD
rs908848092	p.Ala442Asp	missense variant	-	NC_000016.10:g.86568660C>A	TOPMed,gnomAD
RCV000660533	p.Gln444Arg	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86568666A>G	ClinVar
rs1272296263	p.Gln444Ter	stop gained	-	NC_000016.10:g.86568665C>T	gnomAD
rs147258453	p.Gln444Arg	missense variant	-	NC_000016.10:g.86568666A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760244407	p.Gln445Lys	missense variant	-	NC_000016.10:g.86568668C>A	ExAC,gnomAD
rs1187618341	p.Phe447Leu	missense variant	-	NC_000016.10:g.86568676C>A	gnomAD
rs1449081831	p.Phe447Ser	missense variant	-	NC_000016.10:g.86568675T>C	TOPMed,gnomAD
rs754578087	p.Pro448Ser	missense variant	-	NC_000016.10:g.86568677C>T	ExAC,gnomAD
rs751964046	p.Val450Met	missense variant	-	NC_000016.10:g.86568683G>A	ExAC,gnomAD
rs530376696	p.Arg451Gln	missense variant	-	NC_000016.10:g.86568687G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs530376696	p.Arg451Pro	missense variant	-	NC_000016.10:g.86568687G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1204882128	p.Met453Val	missense variant	-	NC_000016.10:g.86568692A>G	TOPMed
rs1003293974	p.Met453Ile	missense variant	-	NC_000016.10:g.86568694G>A	gnomAD
rs1350221322	p.Phe454Ser	missense variant	-	NC_000016.10:g.86568696T>C	TOPMed,gnomAD
rs138612549	p.Asn455Ser	missense variant	-	NC_000016.10:g.86568699A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138612549	p.Asn455Thr	missense variant	-	NC_000016.10:g.86568699A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769989399	p.Asn455Lys	missense variant	-	NC_000016.10:g.86568700C>G	ExAC,TOPMed,gnomAD
rs927024778	p.Ser456Phe	missense variant	-	NC_000016.10:g.86568702C>T	TOPMed
rs1313523405	p.His457Arg	missense variant	-	NC_000016.10:g.86568705A>G	gnomAD
rs1357660848	p.Arg458Gln	missense variant	-	NC_000016.10:g.86568708G>A	gnomAD
rs768679048	p.Gly460Glu	missense variant	-	NC_000016.10:g.86568714G>A	ExAC,TOPMed,gnomAD
rs761593151	p.Glu462Asp	missense variant	-	NC_000016.10:g.86568721G>T	ExAC,TOPMed,gnomAD
rs774509050	p.Glu462Ter	stop gained	-	NC_000016.10:g.86568719G>T	ExAC,gnomAD
rs1435806729	p.Gly467Ala	missense variant	-	NC_000016.10:g.86568735G>C	gnomAD
rs760599635	p.Glu468Ter	stop gained	-	NC_000016.10:g.86568737G>T	ExAC,gnomAD
rs1398108687	p.Gln470Lys	missense variant	-	NC_000016.10:g.86568743C>A	TOPMed
rs1172419110	p.Gln470Arg	missense variant	-	NC_000016.10:g.86568744A>G	TOPMed
rs1474029364	p.Gln470His	missense variant	-	NC_000016.10:g.86568745G>T	TOPMed,gnomAD
rs1474029364	p.Gln470His	missense variant	-	NC_000016.10:g.86568745G>C	TOPMed,gnomAD
rs766101728	p.Ser472Gly	missense variant	-	NC_000016.10:g.86568749A>G	ExAC,gnomAD
rs753504239	p.Gly473Asp	missense variant	-	NC_000016.10:g.86568753G>A	ExAC,gnomAD
rs1344015019	p.Ala475Asp	missense variant	-	NC_000016.10:g.86568759C>A	gnomAD
rs865930279	p.Ser476Arg	missense variant	-	NC_000016.10:g.86568761A>C	gnomAD
rs1162897672	p.Pro480Leu	missense variant	-	NC_000016.10:g.86568774C>T	TOPMed
rs752256878	p.Tyr481Cys	missense variant	-	NC_000016.10:g.86568777A>G	ExAC,TOPMed,gnomAD
rs1413198036	p.Arg482Ser	missense variant	-	NC_000016.10:g.86568781A>T	gnomAD
rs1312452778	p.Thr484Met	missense variant	-	NC_000016.10:g.86568786C>T	gnomAD
RCV000782238	p.Leu487Pro	missense variant	-	NC_000016.10:g.86568795T>C	ClinVar
rs781751310	p.Leu487Pro	missense variant	-	NC_000016.10:g.86568795T>C	ExAC,TOPMed,gnomAD
rs532622899	p.Tyr488Asn	missense variant	-	NC_000016.10:g.86568797T>A	1000Genomes,ExAC,gnomAD
rs145316350	p.Tyr488Cys	missense variant	-	NC_000016.10:g.86568798A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs945964165	p.Arg489His	missense variant	-	NC_000016.10:g.86568801G>A	TOPMed
rs1307600516	p.His490Gln	missense variant	-	NC_000016.10:g.86568805C>A	TOPMed
rs755203127	p.His490Tyr	missense variant	-	NC_000016.10:g.86568803C>T	ExAC,TOPMed,gnomAD
rs778788148	p.His490Leu	missense variant	-	NC_000016.10:g.86568804A>T	ExAC,TOPMed,gnomAD
rs778788148	p.His490Arg	missense variant	-	NC_000016.10:g.86568804A>G	ExAC,TOPMed,gnomAD
rs1288440206	p.Ala491Glu	missense variant	-	NC_000016.10:g.86568807C>A	TOPMed
rs1252138640	p.Ala491Ser	missense variant	-	NC_000016.10:g.86568806G>T	gnomAD
rs748321311	p.Ala492Asp	missense variant	-	NC_000016.10:g.86568810C>A	ExAC,gnomAD
rs748321311	p.Ala492Val	missense variant	-	NC_000016.10:g.86568810C>T	ExAC,gnomAD
rs746977797	p.Pro493Arg	missense variant	-	NC_000016.10:g.86568813C>G	ExAC,gnomAD
rs773245007	p.Pro493Ser	missense variant	-	NC_000016.10:g.86568812C>T	ExAC,gnomAD
rs1396994758	p.Tyr494His	missense variant	-	NC_000016.10:g.86568815T>C	gnomAD
rs776582765	p.Tyr494Cys	missense variant	-	NC_000016.10:g.86568816A>G	ExAC,gnomAD
rs1371479295	p.Ser495Cys	missense variant	-	NC_000016.10:g.86568819C>G	TOPMed,gnomAD
rs1371479295	p.Ser495Phe	missense variant	-	NC_000016.10:g.86568819C>T	TOPMed,gnomAD
rs1219745782	p.Tyr496Cys	missense variant	-	NC_000016.10:g.86568822A>G	TOPMed,gnomAD
rs774848801	p.Asp497Asn	missense variant	-	NC_000016.10:g.86568824G>A	ExAC,gnomAD
rs61753346	p.Cys498Ser	missense variant	-	NC_000016.10:g.86568827T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61753346	p.Cys498Arg	missense variant	-	NC_000016.10:g.86568827T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750901158	p.Thr499Ala	missense variant	-	NC_000016.10:g.86568830A>G	ExAC,gnomAD
rs1442755880	p.Thr499Arg	missense variant	-	NC_000016.10:g.86568831C>G	TOPMed
rs766670511	p.Lys500Thr	missense variant	-	NC_000016.10:g.86568834A>C	ExAC,gnomAD
rs11640590	p.Tyr501Ter	stop gained	-	NC_000016.10:g.86568838C>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0002793	Anaplasia	disease	BEFREE
C0003811	Cardiac Arrhythmia	phenotype	HPO
C0003857	Congenital arteriovenous malformation	disease	BEFREE
C0005745	Blepharoptosis	disease	BEFREE;HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007222	Cardiovascular Diseases	group	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009763	Conjunctivitis	disease	HPO
C0010043	Corneal Ulcer	disease	HPO
C0010701	Phyllodes Tumor	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013274	Patent ductus arteriosus	disease	HPO
C0013592	Ectropion	disease	HPO
C0014859	Esophageal Neoplasms	group	BEFREE
C0017168	Gastroesophageal reflux disease	disease	BEFREE
C0017601	Glaucoma	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0018818	Ventricular Septal Defects	group	HPO
C0018995	Hemochromatosis	disease	BEFREE
C0020305	Hydrops Fetalis	disease	BEFREE;GENOMICS_ENGLAND
C0020557	Hypertriglyceridemia	phenotype	BEFREE
C0020678	Hypotrichosis	disease	BEFREE
C0024228	Lymphatic Diseases	group	GENOMICS_ENGLAND
C0024236	Lymphedema	disease	BEFREE;HPO
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0028754	Obesity	disease	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0039446	Telangiectasis	disease	BEFREE
C0039685	Tetralogy of Fallot	disease	CTD_human;HPO
C0042344	Varicose Ulcer	disease	BEFREE
C0042345	Varicosity	disease	BEFREE;HPO
C0078981	Arachnoid Cysts	disease	BEFREE
C0085636	Photophobia	phenotype	HPO
C0086543	Cataract	disease	HPO
C0151491	Congenital musculoskeletal anomalies	group	CTD_human
C0151786	Muscle Weakness	phenotype	HPO
C0152018	Esophageal carcinoma	disease	BEFREE
C0152101	Hypoplastic Left Heart Syndrome	disease	BEFREE
C0152419	Interrupted aortic arch	disease	BEFREE
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0155119	Recurrent erosion of cornea	disease	HPO
C0158266	Intervertebral Disc Degeneration	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0235833	Congenital diaphragmatic hernia	disease	CTD_human
C0238261	Lymphedema praecox	disease	BEFREE
C0240278	Lymphatic obstruction	phenotype	HPO
C0242339	Dyslipidemias	group	BEFREE;LHGDN
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0243050	Cardiovascular Abnormalities	group	CTD_human
C0265345	Lymphedema distichiasis syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C0265699	Congenital hernia of foramen of Morgagni	disease	CTD_human
C0265700	Congenital hernia of foramen of Bochdalek	disease	CTD_human
C0266548	Axenfeld anomaly (disorder)	disease	BEFREE
C0278504	Non-small cell lung cancer stage I	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0334533	Arteriovenous hemangioma	disease	BEFREE
C0340014	Chylothorax, congenital	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0392163	Corneal erosion	disease	HPO
C0423848	Distichiasis	phenotype	BEFREE;HPO
C0522055	Electrocardiogram abnormal	phenotype	HPO
C0524620	Metabolic Syndrome X	disease	BEFREE
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598935	Tumor Initiation	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0855329	Electrocardiographic changes	phenotype	HPO
C0920646	Ischemia of kidney	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1262289	Dysmetabolic syndrome	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1332986	Childhood Osteosarcoma	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1510497	Lens Opacities	phenotype	HPO
C1527249	Colorectal Cancer	disease	BEFREE
C1704423	Milroy Disease	disease	BEFREE
C1744601	Abnormal heart beat	phenotype	HPO
C1832603	ECG abnormality	phenotype	HPO
C1835228	Predominantly lower limb lymphedema	phenotype	HPO
C1835229	Onset of lymphedema around puberty	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1842820	Cardiac conduction abnormality	phenotype	HPO
C1864156	Conjunctivitis, recurrent	phenotype	HPO
C1968949	Cakut	disease	GENOMICS_ENGLAND
C2239176	Liver carcinoma	disease	BEFREE
C2675066	Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus	disease	UNIPROT
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE
C3469186	HEMOCHROMATOSIS, TYPE 1	disease	BEFREE
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3711383	Early-Onset Glaucoma	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3805278	Extrahepatic Cholangiocarcinoma	disease	BEFREE
C4020887	Photodysphoria	phenotype	HPO
C4020888	Epithelial corneal erosions	phenotype	HPO
C4021745	Abnormality of the musculature	phenotype	HPO
C4021790	Abnormality of the skeletal system	phenotype	BEFREE
C4048228	Congenital anomaly of anterior segment of eye	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IDA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA
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:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0031490	chromatin DNA binding	IDA
GO:0042802	identical protein binding	IPI
GO:0043565	sequence-specific DNA binding	IDA
GO:0044212	transcription regulatory region DNA binding	ISS
GO:1990841	promoter-specific chromatin binding	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS
GO:0001503	ossification	IEA
GO:0001569	branching involved in blood vessel morphogenesis	IEA
GO:0001656	metanephros development	IEA
GO:0001657	ureteric bud development	IEA
GO:0001756	somitogenesis	IEA
GO:0001946	lymphangiogenesis	IMP
GO:0001974	blood vessel remodeling	IEA
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0007219	Notch signaling pathway	IEA
GO:0007498	mesoderm development	NAS
GO:0007507	heart development	IMP
GO:0008286	insulin receptor signaling pathway	IDA
GO:0009653	anatomical structure morphogenesis	IBA
GO:0009725	response to hormone	IDA
GO:0010595	positive regulation of endothelial cell migration	ISS
GO:0014032	neural crest cell development	IEA
GO:0030154	cell differentiation	IBA
GO:0030199	collagen fibril organization	IEA
GO:0033630	positive regulation of cell adhesion mediated by integrin	ISS
GO:0035050	embryonic heart tube development	IEA
GO:0035470	positive regulation of vascular wound healing	ISS
GO:0043010	camera-type eye development	IEA
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0046620	regulation of organ growth	IEA
GO:0048010	vascular endothelial growth factor receptor signaling pathway	IEA
GO:0048343	paraxial mesodermal cell fate commitment	IEA
GO:0048703	embryonic viscerocranium morphogenesis	IEA
GO:0048844	artery morphogenesis	IEA
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IEA
GO:0060038	cardiac muscle cell proliferation	IEA
GO:0072011	glomerular endothelium development	IEA
GO:0072112	glomerular visceral epithelial cell differentiation	IEA
GO:0072144	glomerular mesangial cell development	IEA
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	ISS
GO:0097746	regulation of blood vessel diameter	IEA
GO:0120163	negative regulation of cold-induced thermogenesis	IMP
GO:1902257	negative regulation of apoptotic process involved in outflow tract morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0016604	nuclear body	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of FOXC2 mRNA	19933214
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FOXC2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FOXC2 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 FOXC2 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 FOXC2 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of FOXC2 mRNA	20382639
C496492	abrine	abrine results in increased expression of FOXC2 mRNA	31054353
D020106	Acrylamide	Acrylamide results in decreased expression of FOXC2 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of FOXC2 gene	27153756
D000452	Aldrin	Aldrin results in increased expression of FOXC2 mRNA	18579281
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of FOXC2 mRNA	16483693
C015001	arsenite	arsenite results in increased methylation of FOXC2 promoter	23974009
C487081	belinostat	belinostat results in increased expression of FOXC2 mRNA	26272509
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the reaction [AHR protein binds to FOXC2 promoter]	19654925
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of FOXC2 mRNA	22228805
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of FOXC2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of FOXC2 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of FOXC2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of FOXC2 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of FOXC2 mRNA	29323181
C000611646	bisphenol F	bisphenol F results in increased expression of FOXC2 mRNA	30951980
C584509	C646 compound	C646 compound results in decreased expression of FOXC2 mRNA	26191083
C055494	caffeic acid phenethyl ester	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of FOXC2 mRNA	20360939
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of FOXC2 gene	20938992
D003042	Cocaine	Cocaine results in decreased expression of FOXC2 mRNA	17898221
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of FOXC2 mRNA	23914054
D000077209	Decitabine	Decitabine results in increased expression of FOXC2 mRNA	27915011
D003633	Dichlorodiphenyl Dichloroethylene	Dichlorodiphenyl Dichloroethylene results in increased activity of FOXC2 protein	27589886
D004041	Dietary Fats	[Dietary Fats co-treated with Resveratrol] results in increased expression of FOXC2 mRNA	29197120
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of FOXC2 mRNA	20360939
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FOXC2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FOXC2 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 FOXC2 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 FOXC2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of FOXC2 mRNA	29803840
D004726	Endosulfan	Endosulfan results in increased expression of FOXC2 mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of FOXC2 mRNA	30165855
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of FOXC2 gene	20938992
C069837	fullerene C60	fullerene C60 results in decreased expression of FOXC2 mRNA	19167457
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of FOXC2 mRNA	29432896
D006834	Hydrazines	Hydrazines results in decreased expression of FOXC2 mRNA	21647536
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of FOXC2 mRNA	26644586
D019344	Lactic Acid	Lactic Acid results in decreased expression of FOXC2 mRNA	30851411
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of FOXC2 mRNA	27188386
D008694	Methamphetamine	Methamphetamine results in increased expression of FOXC2 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of FOXC2 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of FOXC2 mRNA	28001369
C000622638	MLN7243	MLN7243 results in decreased sumoylation of FOXC2 protein	31285264
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of FOXC2 mRNA	31059758
C523799	MRK 003	FOXC2 results in increased susceptibility to MRK 003	19903844
C028007	nickel monoxide	nickel monoxide results in decreased expression of FOXC2 mRNA	19167457
C029938	nickel sulfate	nickel sulfate results in increased expression of FOXC2 mRNA	16100012
D010100	Oxygen	Oxygen deficiency results in increased expression of FOXC2 mRNA	24205000
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 FOXC2 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of FOXC2 mRNA	26272509
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of FOXC2 mRNA	29432896
D052638	Particulate Matter	Particulate Matter affects the expression of FOXC2 mRNA	29703138
C471071	perfluorohexanesulfonic acid	perfluorohexanesulfonic acid results in decreased expression of FOXC2 mRNA	22790973
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 FOXC2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of FOXC2 mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in increased expression of FOXC2 mRNA	20813756
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 FOXC2 mRNA	29432896
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of FOXC2 mRNA	24780913
D000077185	Resveratrol	[Dietary Fats co-treated with Resveratrol] results in increased expression of FOXC2 mRNA	29197120
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of FOXC2 mRNA	21427059
D012906	Smoke	Smoke results in increased expression of FOXC2 mRNA	21095227
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of FOXC2 mRNA	21296121
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FOXC2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the reaction [AHR protein binds to FOXC2 promoter]	19654925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of FOXC2 mRNA	19933214
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of FOXC2 mRNA	24058054; 26139165;
D014212	Tretinoin	Tretinoin results in increased expression of FOXC2 mRNA	21934132
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 FOXC2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of FOXC2 mRNA	26272509
D014635	Valproic Acid	Valproic Acid results in increased expression of FOXC2 mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased expression of FOXC2 mRNA	19136453; 21427059;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of FOXC2 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0488	Methylation
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

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: FOXC2

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

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction