CleftGeneDB-Search

Gene: FGF3

Basic information

Tag	Content
Uniprot ID	P11487; Q0VG69;
Entrez ID	2248
Genbank protein ID	CAA32615.1; AAI13740.1;
Genbank nucleotide ID	NM_005247.2
Ensembl protein ID	ENSP00000334122
Ensembl nucleotide ID	ENSG00000186895
Gene name	Fibroblast growth factor 3
Gene symbol	FGF3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	24697712
Functional description	Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development.
Sequence	MGLIWLLLLS LLEPGWPAAG PGARLRRDAG GRGGVYEHLG GAPRRRKLYC ATKYHLQLHP 60 SGRVNGSLEN SAYSILEITA VEVGIVAIRG LFSGRYLAMN KRGRLYASEH YSAECEFVER 120 IHELGYNTYA SRLYRTVSST PGARRQPSAE RLWYVSVNGK GRPRRGFKTR RTQKSSLFLP 180 RVLDHRDHEM VRQLQSGLPR PPGKGVQPRR RRQKQSPDNL EPSHVQASRL GSQLEASAH 239

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)

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	FGF3	108634211	A0A452DMM2		Capra hircus	Prediction	More>>
1:1 ortholog	FGF3	2248	P11487		Homo sapiens	Publication	More>>
1:1 ortholog	Fgf3	14174	Q0VG15	E14.5, E16.5	Mus musculus	Prediction	More>>
1:1 ortholog	FGF3	466693	H2Q4B5		Pan troglodytes	Prediction	More>>
1:1 ortholog	Fgf3	170633	Q8R5L9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	fgf3	30549	P48802		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
FGF3	rs4980700	Genotyping	24697712

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1554981459	p.Gly2Val	missense variant	-	NC_000011.10:g.69818929C>A	gnomAD
rs1169754382	p.Trp5Ter	stop gained	-	NC_000011.10:g.69818920C>T	TOPMed
RCV000014853	p.Leu6Pro	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69818917A>G	ClinVar
rs121917706	p.Leu6Pro	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69818917A>G	UniProt,dbSNP
VAR_060492	p.Leu6Pro	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69818917A>G	UniProt
rs121917706	p.Leu6Pro	missense variant	-	NC_000011.10:g.69818917A>G	-
rs1554981458	p.Leu6Met	missense variant	-	NC_000011.10:g.69818918G>T	gnomAD
rs1463172702	p.Leu8Pro	missense variant	-	NC_000011.10:g.69818911A>G	TOPMed
rs1554981448	p.Glu13Ter	stop gained	-	NC_000011.10:g.69818897C>A	gnomAD
rs782504234	p.Pro14Ser	missense variant	-	NC_000011.10:g.69818894G>A	ExAC,gnomAD
rs781913822	p.Gly15Ser	missense variant	-	NC_000011.10:g.69818891C>T	ExAC,TOPMed,gnomAD
rs1554981444	p.Gly15Asp	missense variant	-	NC_000011.10:g.69818890C>T	gnomAD
rs1554981438	p.Trp16Cys	missense variant	-	NC_000011.10:g.69818886C>A	gnomAD
rs1554981437	p.Pro17Thr	missense variant	-	NC_000011.10:g.69818885G>T	gnomAD
rs1554981435	p.Pro17Leu	missense variant	-	NC_000011.10:g.69818884G>A	gnomAD
rs1554981434	p.Ala18Thr	missense variant	-	NC_000011.10:g.69818882C>T	gnomAD
rs1554981434	p.Ala18Ser	missense variant	-	NC_000011.10:g.69818882C>A	gnomAD
rs1214505914	p.Ala18Val	missense variant	-	NC_000011.10:g.69818881G>A	TOPMed,gnomAD
rs868984673	p.Ala19Val	missense variant	-	NC_000011.10:g.69818878G>A	gnomAD
rs1554981433	p.Ala19Ser	missense variant	-	NC_000011.10:g.69818879C>A	gnomAD
rs782813347	p.Gly20Asp	missense variant	-	NC_000011.10:g.69818875C>T	ExAC,TOPMed,gnomAD
rs1554981430	p.Gly20Ser	missense variant	-	NC_000011.10:g.69818876C>T	gnomAD
rs1554981428	p.Pro21Leu	missense variant	-	NC_000011.10:g.69818872G>A	gnomAD
rs1234725536	p.Gly22Arg	missense variant	-	NC_000011.10:g.69818870C>T	TOPMed
rs1554981425	p.Ala23Thr	missense variant	-	NC_000011.10:g.69818867C>T	gnomAD
rs1450818144	p.Arg24Trp	missense variant	-	NC_000011.10:g.69818864G>A	TOPMed
rs1554981422	p.Arg24Gln	missense variant	-	NC_000011.10:g.69818863C>T	gnomAD
rs1219180577	p.Leu25Trp	missense variant	-	NC_000011.10:g.69818860A>C	TOPMed
rs781923153	p.Arg26Trp	missense variant	-	NC_000011.10:g.69818858G>A	ExAC,TOPMed,gnomAD
rs782733556	p.Arg26Gln	missense variant	-	NC_000011.10:g.69818857C>T	ExAC,gnomAD
rs1554981421	p.Arg27Cys	missense variant	-	NC_000011.10:g.69818855G>A	gnomAD
rs781998314	p.Ala29Glu	missense variant	-	NC_000011.10:g.69818848G>T	ExAC,TOPMed,gnomAD
rs1554981418	p.Ala29Ser	missense variant	-	NC_000011.10:g.69818849C>A	gnomAD
rs781998314	p.Ala29Val	missense variant	-	NC_000011.10:g.69818848G>A	ExAC,TOPMed,gnomAD
rs901877047	p.Gly30Asp	missense variant	-	NC_000011.10:g.69818845C>T	TOPMed,gnomAD
rs1554981416	p.Gly31Ser	missense variant	-	NC_000011.10:g.69818843C>T	gnomAD
rs1554981416	p.Gly31Cys	missense variant	-	NC_000011.10:g.69818843C>A	gnomAD
rs1554981415	p.Gly31Ala	missense variant	-	NC_000011.10:g.69818842C>G	gnomAD
rs1554981414	p.Arg32Gly	missense variant	-	NC_000011.10:g.69818840G>C	gnomAD
rs1039515359	p.Gly34Cys	missense variant	-	NC_000011.10:g.69818834C>A	TOPMed,gnomAD
RCV000763765	p.Gly34Cys	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69818834C>A	ClinVar
RCV000489136	p.Gly34Cys	missense variant	-	NC_000011.10:g.69818834C>A	ClinVar
rs1554981410	p.Val35Gly	missense variant	-	NC_000011.10:g.69818830A>C	gnomAD
rs1430586811	p.Val35Ile	missense variant	-	NC_000011.10:g.69818831C>T	TOPMed,gnomAD
rs1430586811	p.Val35Phe	missense variant	-	NC_000011.10:g.69818831C>A	TOPMed,gnomAD
rs1296941402	p.Glu37Gln	missense variant	-	NC_000011.10:g.69818825C>G	TOPMed,gnomAD
rs1554981406	p.Gly40Arg	missense variant	-	NC_000011.10:g.69818816C>G	gnomAD
rs1554981402	p.Pro43Ser	missense variant	-	NC_000011.10:g.69818807G>A	gnomAD
rs782297586	p.Arg45Ser	missense variant	-	NC_000011.10:g.69818801G>T	ExAC,TOPMed,gnomAD
rs782297586	p.Arg45Cys	missense variant	-	NC_000011.10:g.69818801G>A	ExAC,TOPMed,gnomAD
rs1317320809	p.Lys47Asn	missense variant	-	NC_000011.10:g.69818793C>A	TOPMed,gnomAD
RCV000022692	p.Tyr49Cys	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69818788T>C	ClinVar
rs281860300	p.Tyr49Cys	missense variant	-	NC_000011.10:g.69818788T>C	-
RCV000031938	p.Cys50Ter	nonsense	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69818784G>T	ClinVar
rs281860301	p.Cys50Ter	stop gained	-	NC_000011.10:g.69818784G>T	gnomAD
rs782014417	p.Ala51Ser	missense variant	-	NC_000011.10:g.69818783C>A	ExAC,TOPMed,gnomAD
rs1260985899	p.His55Asn	missense variant	-	NC_000011.10:g.69818771G>T	TOPMed
rs782324453	p.Leu56Ile	missense variant	-	NC_000011.10:g.69818768G>T	ExAC,TOPMed,gnomAD
rs782324453	p.Leu56Phe	missense variant	-	NC_000011.10:g.69818768G>A	ExAC,TOPMed,gnomAD
rs1188817570	p.His59Gln	missense variant	-	NC_000011.10:g.69818757G>T	TOPMed,gnomAD
rs1049232873	p.Pro60Leu	missense variant	-	NC_000011.10:g.69818755G>A	gnomAD
rs929527246	p.Arg63His	missense variant	-	NC_000011.10:g.69818746C>T	TOPMed,gnomAD
rs1554981392	p.Arg63Cys	missense variant	-	NC_000011.10:g.69818747G>A	gnomAD
rs1471911794	p.Asn65Lys	missense variant	-	NC_000011.10:g.69818739G>C	TOPMed,gnomAD
RCV000014852	p.Gly66Cys	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69818738C>A	ClinVar
rs1554981387	p.Gly66Asp	missense variant	-	NC_000011.10:g.69818737C>T	gnomAD
rs121917705	p.Gly66Cys	missense variant	-	NC_000011.10:g.69818738C>A	gnomAD
rs121917705	p.Gly66Ser	missense variant	-	NC_000011.10:g.69818738C>T	gnomAD
rs782172938	p.Leu68Pro	missense variant	-	NC_000011.10:g.69818731A>G	ExAC,TOPMed,gnomAD
rs1554981385	p.Ser71Asn	missense variant	-	NC_000011.10:g.69818722C>T	gnomAD
rs1409151454	p.Ser71Arg	missense variant	-	NC_000011.10:g.69818721G>T	TOPMed
rs1419524448	p.Ala72Thr	missense variant	-	NC_000011.10:g.69818720C>T	TOPMed,gnomAD
rs1554981382	p.Ser74Gly	missense variant	-	NC_000011.10:g.69818714T>C	gnomAD
rs781984680	p.Ser74Asn	missense variant	-	NC_000011.10:g.69816423C>T	ExAC,gnomAD
rs782421361	p.Ile75Val	missense variant	-	NC_000011.10:g.69816421T>C	ExAC,gnomAD
rs1554981088	p.Glu77Ter	stop gained	-	NC_000011.10:g.69816415C>A	gnomAD
rs782286821	p.Ile78Met	missense variant	-	NC_000011.10:g.69816410T>C	ExAC,gnomAD
rs782315409	p.Val81Met	missense variant	-	NC_000011.10:g.69816403C>T	ExAC,gnomAD
rs146864055	p.Glu82Gly	missense variant	-	NC_000011.10:g.69816399T>C	ExAC,gnomAD
rs988287639	p.Val83Gly	missense variant	-	NC_000011.10:g.69816396A>C	gnomAD
rs1381894272	p.Val83Leu	missense variant	-	NC_000011.10:g.69816397C>A	TOPMed
RCV000014854	p.Ile85Ter	frameshift	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69816390del	ClinVar
rs1450391872	p.Ile88Phe	missense variant	-	NC_000011.10:g.69816382T>A	TOPMed,gnomAD
rs1554981085	p.Gly90Ser	missense variant	-	NC_000011.10:g.69816376C>T	gnomAD
RCV000477891	p.Leu91Ter	frameshift	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69816374dup	ClinVar
rs782507721	p.Gly94Arg	missense variant	-	NC_000011.10:g.69816364C>T	ExAC,TOPMed,gnomAD
rs281860303	p.Arg95Trp	missense variant	-	NC_000011.10:g.69816361G>A	NCI-TCGA,NCI-TCGA Cosmic
rs558206333	p.Arg95Gln	missense variant	-	NC_000011.10:g.69816360C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000485154	p.Arg95Trp	missense variant	-	NC_000011.10:g.69816361G>A	ClinVar
rs281860303	p.Arg95Trp	missense variant	-	NC_000011.10:g.69816361G>A	ExAC,TOPMed,gnomAD
rs782535318	p.Tyr96His	missense variant	-	NC_000011.10:g.69816358A>G	NCI-TCGA
rs1204634476	p.Tyr96Ter	stop gained	-	NC_000011.10:g.69816357dup	TOPMed,gnomAD
rs782535318	p.Tyr96His	missense variant	-	NC_000011.10:g.69816358A>G	ExAC,gnomAD
rs61623544	p.Lys101Asn	missense variant	-	NC_000011.10:g.69816341C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1554981078	p.Lys101Glu	missense variant	-	NC_000011.10:g.69816343T>C	gnomAD
rs61623544	p.Lys101Asn	missense variant	-	NC_000011.10:g.69816341C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782695249	p.Arg102Thr	missense variant	-	NC_000011.10:g.69816339C>G	ExAC,gnomAD
rs782695249	p.Arg102Lys	missense variant	-	NC_000011.10:g.69816339C>T	ExAC,gnomAD
rs1184649905	p.Arg102Trp	missense variant	-	NC_000011.10:g.69816340T>A	TOPMed
COSM4036244	p.Gly103Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69816337C>T	NCI-TCGA Cosmic
rs121917704	p.Arg104Ter	stop gained	-	NC_000011.10:g.69816334G>A	NCI-TCGA
RCV000014850	p.Arg104Ter	nonsense	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69816334G>A	ClinVar
rs150581924	p.Arg104Gln	missense variant	-	NC_000011.10:g.69816333C>T	NCI-TCGA,NCI-TCGA Cosmic
rs150581924	p.Arg104Pro	missense variant	-	NC_000011.10:g.69816333C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs121917704	p.Arg104Ter	stop gained	-	NC_000011.10:g.69816334G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs150581924	p.Arg104Gln	missense variant	-	NC_000011.10:g.69816333C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs150581924	p.Arg104Leu	missense variant	-	NC_000011.10:g.69816333C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000022693	p.Tyr106Cys	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69816327T>C	ClinVar
rs281860306	p.Tyr106Cys	missense variant	-	NC_000011.10:g.69816327T>C	-
rs782098384	p.Tyr106Ter	stop gained	-	NC_000011.10:g.69816326A>T	TOPMed,gnomAD
rs782160613	p.Tyr106His	missense variant	-	NC_000011.10:g.69816328A>G	ExAC,gnomAD
rs143593259	p.Ser108Leu	missense variant	-	NC_000011.10:g.69816321G>A	NCI-TCGA,NCI-TCGA Cosmic
rs143593259	p.Ser108Leu	missense variant	-	NC_000011.10:g.69816321G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1052333347	p.Glu109Lys	missense variant	-	NC_000011.10:g.69810700C>T	TOPMed,gnomAD
NCI-TCGA novel	p.His110Asn	missense variant	-	NC_000011.10:g.69810697G>T	NCI-TCGA
NCI-TCGA novel	p.His110GlnPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.69810695_69810696insT	NCI-TCGA
rs1554980383	p.His110Gln	missense variant	-	NC_000011.10:g.69810695G>T	gnomAD
rs1554980380	p.Tyr111His	missense variant	-	NC_000011.10:g.69810694A>G	gnomAD
rs781938977	p.Ala113Thr	missense variant	-	NC_000011.10:g.69810688C>T	ExAC,TOPMed,gnomAD
rs147952743	p.Glu114Gln	missense variant	-	NC_000011.10:g.69810685C>G	ExAC,gnomAD
rs147952743	p.Glu114Lys	missense variant	-	NC_000011.10:g.69810685C>T	ExAC,gnomAD
rs782234525	p.Glu114Asp	missense variant	-	NC_000011.10:g.69810683C>G	ExAC,gnomAD
rs116162988	p.Cys115Trp	missense variant	-	NC_000011.10:g.69810680G>C	1000Genomes,ExAC,gnomAD
rs79472069	p.Glu116Lys	missense variant	-	NC_000011.10:g.69810679C>T	NCI-TCGA
rs79472069	p.Glu116Gln	missense variant	-	NC_000011.10:g.69810679C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs79472069	p.Glu116Lys	missense variant	-	NC_000011.10:g.69810679C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs546096461	p.Glu119Ter	stop gained	-	NC_000011.10:g.69810670C>A	1000Genomes,ExAC,gnomAD
rs376445217	p.Arg120Trp	missense variant	-	NC_000011.10:g.69810667G>A	ESP,ExAC,TOPMed,gnomAD
rs376445217	p.Arg120Gly	missense variant	-	NC_000011.10:g.69810667G>C	ESP,ExAC,TOPMed,gnomAD
rs571671602	p.Arg120Gln	missense variant	-	NC_000011.10:g.69810666C>T	1000Genomes,ExAC,gnomAD
rs144384566	p.Ile121Asn	missense variant	-	NC_000011.10:g.69810663A>T	ESP,TOPMed,gnomAD
COSM239872	p.His122Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810661G>T	NCI-TCGA Cosmic
rs1239990487	p.His122Gln	missense variant	-	NC_000011.10:g.69810659G>C	TOPMed,gnomAD
COSM3452645	p.Glu123Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810658C>T	NCI-TCGA Cosmic
COSM3452644	p.Gly125Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810651C>G	NCI-TCGA Cosmic
rs1462325550	p.Gly125Ser	missense variant	-	NC_000011.10:g.69810652C>T	TOPMed
rs782768201	p.Thr128Met	missense variant	-	NC_000011.10:g.69810642G>A	NCI-TCGA,NCI-TCGA Cosmic
rs782768201	p.Thr128Met	missense variant	-	NC_000011.10:g.69810642G>A	ExAC,TOPMed,gnomAD
rs781892148	p.Tyr129Cys	missense variant	-	NC_000011.10:g.69810639T>C	ExAC,TOPMed,gnomAD
rs1442579536	p.Ala130Thr	missense variant	-	NC_000011.10:g.69810637C>T	TOPMed
rs1408695395	p.Arg132Gln	missense variant	-	NC_000011.10:g.69810630C>T	NCI-TCGA
rs372402801	p.Arg132Gly	missense variant	-	NC_000011.10:g.69810631G>C	ESP,ExAC,TOPMed,gnomAD
rs1408695395	p.Arg132Gln	missense variant	-	NC_000011.10:g.69810630C>T	TOPMed
RCV000031940	p.Arg132Ter	frameshift	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69810633del	ClinVar
rs372402801	p.Arg132Trp	missense variant	-	NC_000011.10:g.69810631G>A	ESP,ExAC,TOPMed,gnomAD
rs149649414	p.Leu133Gln	missense variant	-	NC_000011.10:g.69810627A>T	ESP
rs1408391209	p.Tyr134His	missense variant	-	NC_000011.10:g.69810625A>G	TOPMed,gnomAD
rs1554980371	p.Tyr134Cys	missense variant	-	NC_000011.10:g.69810624T>C	gnomAD
rs574433541	p.Arg135Gly	missense variant	-	NC_000011.10:g.69810622G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs574433541	p.Arg135Trp	missense variant	-	NC_000011.10:g.69810622G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199801193	p.Arg135Gln	missense variant	-	NC_000011.10:g.69810621C>T	NCI-TCGA,NCI-TCGA Cosmic
rs199801193	p.Arg135Gln	missense variant	-	NC_000011.10:g.69810621C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs782272422	p.Thr136Met	missense variant	-	NC_000011.10:g.69810618G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val137Glu	missense variant	-	NC_000011.10:g.69810615A>T	NCI-TCGA
NCI-TCGA novel	p.Val137Met	missense variant	-	NC_000011.10:g.69810616C>T	NCI-TCGA
rs1280624808	p.Val137Ala	missense variant	-	NC_000011.10:g.69810615A>G	TOPMed
rs147515396	p.Val137Leu	missense variant	-	NC_000011.10:g.69810616C>A	ESP,gnomAD
rs782309646	p.Ser139Arg	missense variant	-	NC_000011.10:g.69810610T>G	ExAC,gnomAD
rs782226740	p.Thr140Met	missense variant	-	NC_000011.10:g.69810606G>A	NCI-TCGA,NCI-TCGA Cosmic
rs782226740	p.Thr140Met	missense variant	-	NC_000011.10:g.69810606G>A	ExAC,TOPMed,gnomAD
COSM415761	p.Pro141Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810603G>C	NCI-TCGA Cosmic
rs782459734	p.Gly142Ala	missense variant	-	NC_000011.10:g.69810600C>G	ExAC,TOPMed,gnomAD
rs782459734	p.Gly142Val	missense variant	-	NC_000011.10:g.69810600C>A	ExAC,TOPMed,gnomAD
rs1554980363	p.Ala143Val	missense variant	-	NC_000011.10:g.69810597G>A	gnomAD
rs781807006	p.Arg144His	missense variant	-	NC_000011.10:g.69810594C>T	NCI-TCGA
rs1242191483	p.Arg144Cys	missense variant	-	NC_000011.10:g.69810595G>A	TOPMed,gnomAD
rs781807006	p.Arg144His	missense variant	-	NC_000011.10:g.69810594C>T	ExAC,gnomAD
rs781807006	p.Arg144Pro	missense variant	-	NC_000011.10:g.69810594C>G	ExAC,gnomAD
rs781807006	p.Arg144Leu	missense variant	-	NC_000011.10:g.69810594C>A	ExAC,gnomAD
rs782088765	p.Arg145Pro	missense variant	-	NC_000011.10:g.69810591C>G	ExAC,TOPMed,gnomAD
rs782088765	p.Arg145Gln	missense variant	-	NC_000011.10:g.69810591C>T	ExAC,TOPMed,gnomAD
rs577116996	p.Arg145Trp	missense variant	-	NC_000011.10:g.69810592G>A	1000Genomes,ExAC,gnomAD
rs1004481058	p.Pro147Arg	missense variant	-	NC_000011.10:g.69810585G>C	gnomAD
rs566764532	p.Ser148Arg	missense variant	-	NC_000011.10:g.69810581G>C	ExAC,TOPMed,gnomAD
rs1156753470	p.Ala149Thr	missense variant	-	NC_000011.10:g.69810580C>T	TOPMed,gnomAD
rs200088042	p.Glu150Gln	missense variant	-	NC_000011.10:g.69810577C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200088042	p.Glu150Lys	missense variant	-	NC_000011.10:g.69810577C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1554980352	p.Glu150Asp	missense variant	-	NC_000011.10:g.69810575C>G	gnomAD
rs200088042	p.Glu150Ter	stop gained	-	NC_000011.10:g.69810577C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs782008134	p.Arg151Ile	missense variant	-	NC_000011.10:g.69810573C>A	ExAC,gnomAD
rs1554980351	p.Leu152Pro	missense variant	-	NC_000011.10:g.69810570A>G	gnomAD
RCV000022694	p.Trp153Ter	frameshift	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69810567_69810568CA[1]	ClinVar
RCV000770820	p.Tyr154Ter	nonsense	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69810563G>C	ClinVar
rs782712529	p.Tyr154Ter	stop gained	-	NC_000011.10:g.69810563G>T	ExAC,TOPMed,gnomAD
rs143483033	p.Val155Met	missense variant	-	NC_000011.10:g.69810562C>T	NCI-TCGA
rs143483033	p.Val155Met	missense variant	-	NC_000011.10:g.69810562C>T	ESP,ExAC,gnomAD
rs143483033	p.Val155Leu	missense variant	-	NC_000011.10:g.69810562C>G	ESP,ExAC,gnomAD
rs143483033	p.Val155Leu	missense variant	-	NC_000011.10:g.69810562C>A	ESP,ExAC,gnomAD
rs121917703	p.Ser156Pro	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69810559A>G	UniProt,dbSNP
VAR_031848	p.Ser156Pro	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69810559A>G	UniProt
rs121917703	p.Ser156Pro	missense variant	-	NC_000011.10:g.69810559A>G	ExAC
RCV000014849	p.Ser156Pro	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69810559A>G	ClinVar
NCI-TCGA novel	p.Asn158Ile	missense variant	-	NC_000011.10:g.69810552T>A	NCI-TCGA
NCI-TCGA novel	p.Asn158His	missense variant	-	NC_000011.10:g.69810553T>G	NCI-TCGA
rs138021053	p.Gly159Ser	missense variant	-	NC_000011.10:g.69810550C>T	TOPMed,gnomAD
rs138021053	p.Gly159Arg	missense variant	-	NC_000011.10:g.69810550C>G	TOPMed,gnomAD
rs1554980341	p.Gly159Asp	missense variant	-	NC_000011.10:g.69810549C>T	gnomAD
rs1554980339	p.Lys160Gln	missense variant	-	NC_000011.10:g.69810547T>G	gnomAD
NCI-TCGA novel	p.Arg162Trp	missense variant	-	NC_000011.10:g.69810541G>A	NCI-TCGA
rs782194323	p.Arg162Gln	missense variant	-	NC_000011.10:g.69810540C>T	ExAC,gnomAD
rs782194323	p.Arg162Leu	missense variant	-	NC_000011.10:g.69810540C>A	ExAC,gnomAD
rs782573423	p.Arg164His	missense variant	-	NC_000011.10:g.69810534C>T	ExAC,gnomAD
rs1335560620	p.Arg164Cys	missense variant	-	NC_000011.10:g.69810535G>A	TOPMed,gnomAD
rs1440586250	p.Gly166Ser	missense variant	-	NC_000011.10:g.69810529C>T	TOPMed
rs1554980334	p.Lys168Arg	missense variant	-	NC_000011.10:g.69810522T>C	gnomAD
rs782653936	p.Thr169Pro	missense variant	-	NC_000011.10:g.69810520T>G	ExAC,gnomAD
rs782801923	p.Arg170His	missense variant	-	NC_000011.10:g.69810516C>T	ExAC,TOPMed,gnomAD
rs782801923	p.Arg170Leu	missense variant	-	NC_000011.10:g.69810516C>A	ExAC,TOPMed,gnomAD
rs782512706	p.Arg170Cys	missense variant	-	NC_000011.10:g.69810517G>A	ExAC,gnomAD
rs1262110871	p.Arg171Cys	missense variant	-	NC_000011.10:g.69810514G>A	NCI-TCGA
rs35983315	p.Arg171His	missense variant	-	NC_000011.10:g.69810513C>T	NCI-TCGA
NCI-TCGA novel	p.Arg171AlaPheSerTerUnk	frameshift	-	NC_000011.10:g.69810514G>-	NCI-TCGA
rs35983315	p.Arg171His	missense variant	-	NC_000011.10:g.69810513C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1262110871	p.Arg171Cys	missense variant	-	NC_000011.10:g.69810514G>A	TOPMed,gnomAD
rs1262110871	p.Arg171Ser	missense variant	-	NC_000011.10:g.69810514G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Thr172Ala	missense variant	-	NC_000011.10:g.69810511T>C	NCI-TCGA
rs782745138	p.Lys174Asn	missense variant	-	NC_000011.10:g.69810503C>A	ExAC,TOPMed,gnomAD
COSM4498791	p.Ser176Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810498G>A	NCI-TCGA Cosmic
rs782081344	p.Phe178Leu	missense variant	-	NC_000011.10:g.69810491G>C	ExAC,gnomAD
rs782000580	p.Pro180His	missense variant	-	NC_000011.10:g.69810486G>T	ExAC,gnomAD
rs1554980328	p.Pro180Thr	missense variant	-	NC_000011.10:g.69810487G>T	gnomAD
rs782147248	p.Arg181His	missense variant	-	NC_000011.10:g.69810483C>T	NCI-TCGA,NCI-TCGA Cosmic
rs782147248	p.Arg181Leu	missense variant	-	NC_000011.10:g.69810483C>A	ExAC,gnomAD
rs782761826	p.Arg181Cys	missense variant	-	NC_000011.10:g.69810484G>A	ExAC,TOPMed,gnomAD
rs782147248	p.Arg181His	missense variant	-	NC_000011.10:g.69810483C>T	ExAC,gnomAD
rs781935233	p.Val182Met	missense variant	-	NC_000011.10:g.69810481C>T	ExAC,TOPMed,gnomAD
rs782314755	p.Leu183Pro	missense variant	-	NC_000011.10:g.69810477A>G	ExAC,TOPMed,gnomAD
rs782227926	p.Asp184Gly	missense variant	-	NC_000011.10:g.69810474T>C	ExAC,TOPMed,gnomAD
rs782227926	p.Asp184Val	missense variant	-	NC_000011.10:g.69810474T>A	ExAC,TOPMed,gnomAD
rs143175848	p.His185Pro	missense variant	-	NC_000011.10:g.69810471T>G	ESP,ExAC,TOPMed,gnomAD
rs1554980325	p.Arg186Gly	missense variant	-	NC_000011.10:g.69810469T>C	gnomAD
NCI-TCGA novel	p.Asp187Tyr	missense variant	-	NC_000011.10:g.69810466C>A	NCI-TCGA
rs1554980324	p.Asp187Glu	missense variant	-	NC_000011.10:g.69810464G>T	gnomAD
rs113473565	p.His188Gln	missense variant	-	NC_000011.10:g.69810461G>T	ExAC,TOPMed,gnomAD
rs1554980323	p.His188Arg	missense variant	-	NC_000011.10:g.69810462T>C	gnomAD
rs868995912	p.Glu189Lys	missense variant	-	NC_000011.10:g.69810460C>T	gnomAD
rs868995912	p.Glu189Lys	missense variant	-	NC_000011.10:g.69810460C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met190Val	missense variant	-	NC_000011.10:g.69810457T>C	NCI-TCGA
rs369547972	p.Met190Ile	missense variant	-	NC_000011.10:g.69810455C>T	ESP,ExAC,TOPMed,gnomAD
rs1168737490	p.Arg192Gln	missense variant	-	NC_000011.10:g.69810450C>T	TOPMed
rs115545058	p.Gln195His	missense variant	-	NC_000011.10:g.69810440C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser196Arg	missense variant	-	NC_000011.10:g.69810437A>C	NCI-TCGA
NCI-TCGA novel	p.Ser196Ile	missense variant	-	NC_000011.10:g.69810438C>A	NCI-TCGA
rs754817690	p.Gly197Glu	missense variant	-	NC_000011.10:g.69810435C>T	TOPMed,gnomAD
rs1554980316	p.Arg200Lys	missense variant	-	NC_000011.10:g.69810426C>T	gnomAD
rs1554980316	p.Arg200Lys	missense variant	-	NC_000011.10:g.69810426C>T	NCI-TCGA
rs1305463722	p.Arg200Ter	stop gained	-	NC_000011.10:g.69810427T>A	TOPMed,gnomAD
rs1405021536	p.Pro201Leu	missense variant	-	NC_000011.10:g.69810423G>A	TOPMed
rs782556280	p.Pro201Ser	missense variant	-	NC_000011.10:g.69810424G>A	ExAC,gnomAD
rs782491968	p.Pro202Ser	missense variant	-	NC_000011.10:g.69810421G>A	ExAC,TOPMed,gnomAD
rs547457011	p.Gly203Ser	missense variant	-	NC_000011.10:g.69810418C>T	1000Genomes
rs781819367	p.Lys204Thr	missense variant	-	NC_000011.10:g.69810414T>G	ExAC,gnomAD
rs535882027	p.Val206Phe	missense variant	-	NC_000011.10:g.69810409C>A	1000Genomes,gnomAD
RCV000014851	p.Val206Ter	frameshift	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69810413del	ClinVar
rs535882027	p.Val206Ile	missense variant	-	NC_000011.10:g.69810409C>T	1000Genomes,gnomAD
rs535882027	p.Val206Leu	missense variant	-	NC_000011.10:g.69810409C>G	1000Genomes,gnomAD
rs782503976	p.Val206Ala	missense variant	-	NC_000011.10:g.69810408A>G	ExAC,gnomAD
rs910069209	p.Pro208Ser	missense variant	-	NC_000011.10:g.69810403G>A	TOPMed,gnomAD
rs374453035	p.Arg209Ter	stop gained	-	NC_000011.10:g.69810400G>A	ESP,ExAC,TOPMed,gnomAD
rs782047997	p.Arg209Gln	missense variant	-	NC_000011.10:g.69810399C>T	ExAC,TOPMed,gnomAD
rs369755339	p.Arg210Trp	missense variant	-	NC_000011.10:g.69810397G>A	NCI-TCGA
rs369755339	p.Arg210Trp	missense variant	-	NC_000011.10:g.69810397G>A	ESP,ExAC,TOPMed,gnomAD
rs115452181	p.Arg210Gln	missense variant	-	NC_000011.10:g.69810396C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1221660991	p.Arg211Gln	missense variant	-	NC_000011.10:g.69810393C>T	TOPMed,gnomAD
rs1221660991	p.Arg211Leu	missense variant	-	NC_000011.10:g.69810393C>A	TOPMed,gnomAD
rs1554980307	p.Arg211Trp	missense variant	-	NC_000011.10:g.69810394G>A	gnomAD
rs377265856	p.Arg212Gln	missense variant	-	NC_000011.10:g.69810390C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1554980306	p.Arg212Trp	missense variant	-	NC_000011.10:g.69810391G>A	gnomAD
rs377265856	p.Arg212Leu	missense variant	-	NC_000011.10:g.69810390C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln215Leu	missense variant	-	NC_000011.10:g.69810381T>A	NCI-TCGA
rs1554980302	p.Ser216Asn	missense variant	-	NC_000011.10:g.69810378C>T	gnomAD
rs781929547	p.Pro217Arg	missense variant	-	NC_000011.10:g.69810375G>C	ExAC,gnomAD
rs1424524679	p.Asp218Glu	missense variant	-	NC_000011.10:g.69810371A>C	TOPMed
COSM1356616	p.Asp218Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810373C>T	NCI-TCGA Cosmic
rs1554980299	p.Asn219Asp	missense variant	-	NC_000011.10:g.69810370T>C	gnomAD
rs1554980298	p.Leu220Pro	missense variant	-	NC_000011.10:g.69810366A>G	gnomAD
rs782607197	p.Ser223Pro	missense variant	-	NC_000011.10:g.69810358A>G	ExAC,TOPMed,gnomAD
rs1387906058	p.Ser223Phe	missense variant	-	NC_000011.10:g.69810357G>A	TOPMed,gnomAD
rs375708730	p.His224Gln	missense variant	-	NC_000011.10:g.69810353G>T	gnomAD
rs782246758	p.Val225Ile	missense variant	-	NC_000011.10:g.69810352C>T	NCI-TCGA,NCI-TCGA Cosmic
rs782246758	p.Val225Ile	missense variant	-	NC_000011.10:g.69810352C>T	ExAC,TOPMed,gnomAD
rs782246758	p.Val225Phe	missense variant	-	NC_000011.10:g.69810352C>A	ExAC,TOPMed,gnomAD
rs782683196	p.Ala227Thr	missense variant	-	NC_000011.10:g.69810346C>T	ExAC,gnomAD
rs782454437	p.Ser228Leu	missense variant	-	NC_000011.10:g.69810342G>A	ExAC,TOPMed,gnomAD
rs782554596	p.Arg229Lys	missense variant	-	NC_000011.10:g.69810339C>T	gnomAD
rs782554596	p.Arg229Thr	missense variant	-	NC_000011.10:g.69810339C>G	gnomAD
rs782554596	p.Arg229Ile	missense variant	-	NC_000011.10:g.69810339C>A	gnomAD
rs782612620	p.Leu230Val	missense variant	-	NC_000011.10:g.69810337G>C	ExAC,TOPMed,gnomAD
rs1554980292	p.Leu230Arg	missense variant	-	NC_000011.10:g.69810336A>C	gnomAD
COSM3452641	p.Ser232Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810330G>A	NCI-TCGA Cosmic
rs782483681	p.Gln233Lys	missense variant	-	NC_000011.10:g.69810328G>T	ExAC
rs781875396	p.Leu234Pro	missense variant	-	NC_000011.10:g.69810324A>G	ExAC,gnomAD
rs1554980287	p.Glu235Lys	missense variant	-	NC_000011.10:g.69810322C>T	gnomAD
rs1359915834	p.Ala236Gly	missense variant	-	NC_000011.10:g.69810318G>C	TOPMed
rs782781457	p.Ser237Thr	missense variant	-	NC_000011.10:g.69810315C>G	ExAC,gnomAD
rs782166974	p.Ala238Val	missense variant	-	NC_000011.10:g.69810312G>A	ExAC,TOPMed,gnomAD
rs782166974	p.Ala238Glu	missense variant	-	NC_000011.10:g.69810312G>T	ExAC,TOPMed,gnomAD
rs1554980283	p.Ter240Gln	stop lost	-	NC_000011.10:g.69810307A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0000846	Agenesis	disease	BEFREE
C0001175	Acquired Immunodeficiency Syndrome	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0002448	Ameloblastoma	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;CGI;CTD_human
C0007095	Carcinoid Tumor	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0008924	Cleft upper lip	disease	CTD_human;LHGDN
C0008925	Cleft Palate	disease	CTD_human
C0009363	Congenital ocular coloboma (disorder)	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011053	Deafness	phenotype	LHGDN
C0011334	Dental caries	disease	HPO
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011884	Diabetic Retinopathy	disease	BEFREE
C0015230	Exanthema	phenotype	BEFREE
C0017563	Gingival Diseases	group	HPO
C0017566	Gingival Hyperplasia	phenotype	HPO
C0017567	Gingival Hypertrophy	disease	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	CTD_human;HPO
C0020608	Hypodontia	disease	BEFREE
C0020627	Hypopharyngeal Neoplasms	group	BEFREE
C0022603	Seborrheic keratosis	disease	BEFREE
C0022890	Labyrinthine disorder	group	BEFREE
C0023055	Laryngeal neoplasm	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025267	Multiple Endocrine Neoplasia Type 1	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0026499	Monosomy	group	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027708	Nephroblastoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030354	Papilloma	disease	BEFREE
C0031090	Periodontal Diseases	group	HPO
C0031099	Periodontitis	disease	HPO
C0036220	Kaposi Sarcoma	disease	BEFREE
C0037293	Skin tag	phenotype	HPO
C0038368	Stomatognathic Diseases	group	CTD_human
C0079731	B-Cell Lymphomas	group	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0152423	Congenital small ears	disease	BEFREE;HPO
C0153452	Malignant neoplasm of gallbladder	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0205851	Germ cell tumor	group	BEFREE
C0206664	Teratocarcinoma	disease	BEFREE
C0235782	Gallbladder Carcinoma	disease	BEFREE
C0239174	Late tooth eruption	phenotype	HPO
C0240340	Microdontia (disorder)	disease	BEFREE;HPO
C0266037	Peg-shaped teeth	disease	HPO
C0266039	Taurodontism	disease	HPO
C0266589	Congenital ear anomaly NOS (disorder)	group	BEFREE
C0266604	Congenital aplasia of inner ear	disease	BEFREE;HPO
C0268199	Familial apolipoprotein C-II deficiency	disease	BEFREE
C0279565	Invasive Lobular Breast Carcinoma	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0334299	Carcinoid tumor no ICD-O subtype	phenotype	BEFREE
C0334359	Papillary serous cystadenocarcinoma	disease	BEFREE
C0339789	Congenital deafness	disease	BEFREE
C0376480	Gingival Overgrowth	phenotype	HPO
C0376634	Craniofacial Abnormalities	group	CTD_human
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0476089	Endometrial Carcinoma	disease	BEFREE
C0494559	Diseases of inner ear	group	BEFREE
C0496956	Neoplasm of uncertain or unknown behavior of breast	disease	CGI
C0521158	Recurrent tumor	phenotype	BEFREE
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0677898	invasive cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;CGI;CTD_human
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0751688	Malignant Squamous Cell Neoplasm	disease	BEFREE
C0853879	Invasive carcinoma of breast	disease	BEFREE
C0858252	Breast adenocarcinoma	disease	CGI
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1153706	Endometrial adenocarcinoma	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1266089	Metaplastic carcinoma	disease	BEFREE
C1332347	Atypical Ductal Breast Hyperplasia	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;CTD_human
C1512127	HER2 gene amplification	phenotype	BEFREE
C1512981	Mammary Tumorigenesis	phenotype	BEFREE
C1527284	Dental Pulp Stone	disease	HPO
C1568272	Tendinopathy	disease	BEFREE
C1691779	Sensory hearing loss	disease	CTD_human
C1704330	Dental Diseases	group	CTD_human
C1833693	Otodental Dysplasia	disease	BEFREE;ORPHANET
C1834055	Underdeveloped nasal alae	phenotype	HPO
C1836047	Long face	phenotype	HPO
C1837218	Cleft palate, isolated	disease	CTD_human
C1837658	Gross motor development delay	disease	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1843156	Progressive sensorineural hearing impairment	disease	HPO
C1844505	Pointed chin	phenotype	HPO
C1844813	Widely spaced teeth	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1853144	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1854510	Abnormality of the cranial nerves	group	HPO
C1857055	Anteverted ears	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1865866	Congenital sensorineural hearing loss	disease	BEFREE
C1866231	Full cheeks	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE;CTD_human
C2748653	Chubby cheeks	phenotype	HPO
C2750325	Oculootodental Syndrome	disease	ORPHANET
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3806443	Puffy cheeks	phenotype	HPO
C4012359	Pointed tooth	phenotype	HPO
C4020872	Cranial nerve abnormality	phenotype	HPO
C4021175	Microtia, first degree	phenotype	HPO
C4021775	High-frequency sensorineural hearing impairment	disease	HPO
C4021800	Abnormality of dental enamel	phenotype	HPO
C4023338	Profound sensorineural hearing impairment	disease	HPO
C4023546	Abnormality of canine	phenotype	HPO
C4023566	Agenesis of premolar	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4025862	Abnormality of the maxilla	phenotype	HPO
C4280259	True denticles	phenotype	HPO
C4280262	Dystrophic tooth enamel	phenotype	HPO
C4280351	Absence of bicuspid	phenotype	HPO
C4280546	False denticles	phenotype	HPO
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO
C4280615	Defective tooth enamel	phenotype	HPO
C4280616	Large elongated pulp chamber	phenotype	HPO
C4280623	Rotting teeth	phenotype	HPO
C4280647	Hypertrophy of cheeks	phenotype	HPO
C4280648	Hyperplasia of cheeks	phenotype	HPO
C4476522	Oral soft tissue hyperplasia	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005104	fibroblast growth factor receptor binding	IEA
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000165	MAPK cascade	TAS
GO:0007165	signal transduction	TAS
GO:0007267	cell-cell signaling	TAS
GO:0007275	multicellular organism development	IEA
GO:0008284	positive regulation of cell population proliferation	IGI
GO:0008543	fibroblast growth factor receptor signaling pathway	IGI
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS
GO:0009653	anatomical structure morphogenesis	TAS
GO:0030154	cell differentiation	IEA
GO:0051781	positive regulation of cell division	IEA
GO:0051897	positive regulation of protein kinase B signaling	TAS
GO:0055026	negative regulation of cardiac muscle tissue development	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109704	PI3K Cascade	TAS
R-HSA-112399	IRS-mediated signalling	TAS
R-HSA-1226099	Signaling by FGFR in disease	TAS
R-HSA-1257604	PIP3 activates AKT signaling	TAS
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-168256	Immune System	TAS
R-HSA-1839126	FGFR2 mutant receptor activation	TAS
R-HSA-190236	Signaling by FGFR	TAS
R-HSA-190241	FGFR2 ligand binding and activation	TAS
R-HSA-190242	FGFR1 ligand binding and activation	TAS
R-HSA-190370	FGFR1b ligand binding and activation	TAS
R-HSA-190377	FGFR2b ligand binding and activation	TAS
R-HSA-199418	Negative regulation of the PI3K/AKT network	TAS
R-HSA-2033519	Activated point mutants of FGFR2	TAS
R-HSA-2219528	PI3K/AKT Signaling in Cancer	TAS
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer	TAS
R-HSA-2404192	Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	TAS
R-HSA-2428924	IGF1R signaling cascade	TAS
R-HSA-2428928	IRS-related events triggered by IGF1R	TAS
R-HSA-5654219	Phospholipase C-mediated cascade: FGFR1	TAS
R-HSA-5654221	Phospholipase C-mediated cascade; FGFR2	TAS
R-HSA-5654687	Downstream signaling of activated FGFR1	TAS
R-HSA-5654688	SHC-mediated cascade:FGFR1	TAS
R-HSA-5654689	PI-3K cascade:FGFR1	TAS
R-HSA-5654693	FRS-mediated FGFR1 signaling	TAS
R-HSA-5654695	PI-3K cascade:FGFR2	TAS
R-HSA-5654696	Downstream signaling of activated FGFR2	TAS
R-HSA-5654699	SHC-mediated cascade:FGFR2	TAS
R-HSA-5654700	FRS-mediated FGFR2 signaling	TAS
R-HSA-5654726	Negative regulation of FGFR1 signaling	TAS
R-HSA-5654727	Negative regulation of FGFR2 signaling	TAS
R-HSA-5654736	Signaling by FGFR1	TAS
R-HSA-5654738	Signaling by FGFR2	TAS
R-HSA-5655253	Signaling by FGFR2 in disease	TAS
R-HSA-5658623	FGFRL1 modulation of FGFR1 signaling	TAS
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-5673001	RAF/MAP kinase cascade	TAS
R-HSA-5683057	MAPK family signaling cascades	TAS
R-HSA-5684996	MAPK1/MAPK3 signaling	TAS
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	TAS
R-HSA-74751	Insulin receptor signalling cascade	TAS
R-HSA-74752	Signaling by Insulin receptor	TAS
R-HSA-9006925	Intracellular signaling by second messengers	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS
R-HSA-9607240	FLT3 Signaling	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
C549543	3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid analog results in increased expression of FGF3 mRNA	25716159
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of FGF3 mRNA	16483693
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of FGF3 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of FGF3 mRNA	25181051
D004008	Diclofenac	Diclofenac results in increased expression of FGF3 mRNA	26934552
D004958	Estradiol	[Estradiol binds to ESR2 protein] which results in increased expression of FGF3 mRNA	20404318
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of FGF3 mRNA	23550701
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of FGF3 mRNA	23129252
D006493	Heparin	Heparin affects the activity of FGF3 protein	7592624
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of FGF3 mRNA	26752646
D008727	Methotrexate	Methotrexate affects the expression of FGF3 mRNA	18502557
D009534	Niclosamide	Niclosamide results in decreased expression of FGF3 mRNA	31398420
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FGF3 mRNA	25510870
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of FGF3 mRNA	23608068
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of FGF3 mRNA	24780913
C017947	sodium arsenite	sodium arsenite affects the methylation of FGF3 gene	28589171
C105686	SU 5402	SU 5402 results in decreased expression of FGF3 mRNA	15355794
C105686	SU 5402	SU 5402 results in decreased expression of FGF3 mRNA	12421715
C003377	taxifolin	taxifolin results in decreased expression of FGF3 mRNA	17541156
D014118	Toxins, Biological	Toxins, Biological affects the expression of FGF3 mRNA	19682533
D014212	Tretinoin	Tretinoin affects the expression of FGF3 mRNA	8800419
D014212	Tretinoin	Tretinoin affects the localization of FGF3 protein	8800419
D014284	Triiodothyronine	Triiodothyronine results in increased expression of FGF3 mRNA	17403546
D014635	Valproic Acid	Valproic Acid results in increased methylation of FGF3 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of FGF3 mRNA	17963808

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0325	Glycoprotein
KW-0339	Growth factor
KW-0497	Mitogen
KW-0656	Proto-oncogene
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR028232	FGF3
IPR002209	Fibroblast_GF_fam
IPR008996	IL1/FGF

PROSITE

PROSITE ID	PROSITE Term
PS00247	HBGF_FGF

Pfam

Pfam ID	Pfam Term
PF00167	FGF

Gene: FGF3

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

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