CleftGeneDB-Search

Gene: PORCN

Basic information

Tag	Content
Uniprot ID	Q9H237; B2RBN8; B7ZAR3; Q14829; Q9H234; Q9H235; Q9H236; Q9UJU7;
Entrez ID	64840
Genbank protein ID	AAA74510.1; BAG37285.1; AAG39628.1; AAG39629.1; AAH19080.1; EAW50780.1; AAG39630.1; AAG39631.1; BAH14749.1;
Genbank nucleotide ID	NM_022825.3; NM_203474.1; XM_011543948.2; XM_006724546.3; XM_017029736.1; NM_001282167.1; NM_203473.2; NM_203475.2;
Ensembl protein ID	ENSP00000354978; ENSP00000322304; ENSP00000352946; ENSP00000356546; ENSP00000348233; ENSP00000446401;
Ensembl nucleotide ID	ENSG00000102312
Gene name	Protein-serine O-palmitoleoyltransferase porcupine
Gene symbol	PORCN
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors.
Sequence	MATFSRQEFF QQLLQGCLLP TAQQGLDQIW LLLAICLACR LLWRLGLPSY LKHASTVAGG 60 FFSLYHFFQL HMVWVVLLSL LCYLVLFLCR HSSHRGVFLS VTILIYLLMG EMHMVDTVTW 120 HKMRGAQMIV AMKAVSLGFD LDRGEVGTVP SPVEFMGYLY FVGTIVFGPW ISFHSYLQAV 180 QGRPLSCRWL QKVARSLALA LLCLVLSTCV GPYLFPYFIP LNGDRLLRNK KRKARGTMVR 240 WLRAYESAVS FHFSNYFVGF LSEATATLAG AGFTEEKDHL EWDLTVSKPL NVELPRSMVE 300 VVTSWNLPMS YWLNNYVFKN ALRLGTFSAV LVTYAASALL HGFSFHLAAV LLSLAFITYV 360 EHVLRKRLAR ILSACVLSKR CPPDCSHQHR LGLGVRALNL LFGALAIFHL AYLGSLFDVD 420 VDDTTEEQGY GMAYTVHKWS ELSWASHWVT FGCWIFYRLI G 461

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PORCN	540373	A7MB52		Bos taurus	Prediction	More>>
1:1 ortholog	PORCN	480903	A0A5F4BU92		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PORCN	102177509	A0A452EU12		Capra hircus	Prediction	More>>
1:1 ortholog	PORCN	64840	Q9H237		Homo sapiens	Prediction	More>>
1:1 ortholog	Porcn	53627	Q9JJJ7	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PORCN		A0A2J8IQT0		Pan troglodytes	Prediction	More>>
1:1 ortholog	PORCN	100627921	A0A287B2I9		Sus scrofa	Prediction	More>>
1:1 ortholog	Porcn	317368	D3ZVQ3		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Ser5Arg	missense variant	-	chrX:g.48509835C>A	NCI-TCGA
rs1409621929	p.Arg6His	missense variant	-	NC_000023.11:g.48509837G>A	TOPMed
COSM1122060	p.Gln7Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48509840A>G	NCI-TCGA Cosmic
rs1158362920	p.Gly16Ser	missense variant	-	NC_000023.11:g.48509866G>A	TOPMed
rs1556973506	p.Cys17Arg	missense variant	-	NC_000023.11:g.48509869T>C	-
RCV000624598	p.Cys17Arg	missense variant	Inborn genetic diseases	NC_000023.11:g.48509869T>C	ClinVar
NCI-TCGA novel	p.Leu18Ile	missense variant	-	chrX:g.48509872C>A	NCI-TCGA
NCI-TCGA novel	p.Ala22Val	missense variant	-	chrX:g.48509885C>T	NCI-TCGA
rs782609946	p.Gly25Val	missense variant	-	NC_000023.11:g.48509894G>T	ExAC,gnomAD
rs267606466	p.Gly25Ser	missense variant	-	chrX:g.48509893G>A	NCI-TCGA
COSM4109749	p.Leu32Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48509914C>T	NCI-TCGA Cosmic
rs1556973524	p.Ala34Pro	missense variant	-	NC_000023.11:g.48509920G>C	gnomAD
COSM1122061	p.Leu37Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48509929C>A	NCI-TCGA Cosmic
rs782505896	p.Ala38Thr	missense variant	-	chrX:g.48509932G>A	NCI-TCGA,NCI-TCGA Cosmic
rs782505896	p.Ala38Thr	missense variant	-	NC_000023.11:g.48509932G>A	ExAC,TOPMed,gnomAD
rs1556973527	p.Arg40Cys	missense variant	-	NC_000023.11:g.48509938C>T	gnomAD
rs966935905	p.Arg40His	missense variant	-	NC_000023.11:g.48509939G>A	TOPMed
rs782324176	p.Gly46Arg	missense variant	-	NC_000023.11:g.48509956G>A	ExAC,TOPMed,gnomAD
rs1556973824	p.Gly46Glu	missense variant	-	NC_000023.11:g.48511295G>A	gnomAD
COSM76015	p.Leu47Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48511298T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser55Asn	missense variant	-	chrX:g.48511322G>A	NCI-TCGA
rs781906860	p.Val57Met	missense variant	-	chrX:g.48511327G>A	NCI-TCGA,NCI-TCGA Cosmic
rs781906860	p.Val57Met	missense variant	-	NC_000023.11:g.48511327G>A	ExAC,TOPMed,gnomAD
COSM757153	p.Val57Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48511328T>A	NCI-TCGA Cosmic
rs267606973	p.Gly60Arg	missense variant	Focal dermal hypoplasia (fdh)	NC_000023.11:g.48511336G>A	-
rs267606973	p.Gly60Arg	missense variant	Focal dermal hypoplasia (FODH)	NC_000023.11:g.48511336G>A	UniProt,dbSNP
VAR_035089	p.Gly60Arg	missense variant	Focal dermal hypoplasia (FODH)	NC_000023.11:g.48511336G>A	UniProt
RCV000011447	p.Gly60Arg	missense variant	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48511336G>A	ClinVar
COSM1122063	p.Phe61Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48511341C>A	NCI-TCGA Cosmic
rs782597350	p.Phe61Val	missense variant	-	NC_000023.11:g.48511339T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser63Gly	missense variant	-	chrX:g.48511345A>G	NCI-TCGA
rs781793782	p.Tyr65Asn	missense variant	-	NC_000023.11:g.48511351T>A	ExAC,gnomAD
COSM1122064	p.Phe67Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48511359C>A	NCI-TCGA Cosmic
rs782477494	p.Leu70Arg	missense variant	-	NC_000023.11:g.48511367T>G	ExAC,gnomAD
rs137852219	p.Trp74Ter	stop gained	Focal dermal hypoplasia (fdh)	NC_000023.11:g.48511380G>A	-
NCI-TCGA novel	p.Trp74Leu	missense variant	-	chrX:g.48511379G>T	NCI-TCGA
RCV000011449	p.Trp74Ter	nonsense	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48511380G>A	ClinVar
rs1556973846	p.Val76Met	missense variant	-	NC_000023.11:g.48511384G>A	gnomAD
NCI-TCGA novel	p.Leu78Ile	missense variant	-	chrX:g.48511390C>A	NCI-TCGA
RCV000082827	p.Leu84Ter	frameshift	-	NC_000023.11:g.48511408del	ClinVar
rs781965191	p.Val85Leu	missense variant	-	NC_000023.11:g.48511411G>C	ExAC,gnomAD
rs781965191	p.Val85Met	missense variant	-	NC_000023.11:g.48511411G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu86Met	missense variant	-	chrX:g.48511414C>A	NCI-TCGA
rs782086023	p.Arg90Gln	missense variant	-	chrX:g.48511427G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000491111	p.Arg90Ter	nonsense	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48511426C>T	ClinVar
rs1114167283	p.Arg90Ter	stop gained	-	NC_000023.11:g.48511426C>T	-
rs782086023	p.Arg90Gln	missense variant	-	NC_000023.11:g.48511427G>A	ExAC,TOPMed,gnomAD
rs1556973869	p.Ser92Phe	missense variant	-	NC_000023.11:g.48511433C>T	gnomAD
rs1556973874	p.His94Gln	missense variant	-	NC_000023.11:g.48511440T>A	gnomAD
rs1279800512	p.His94Arg	missense variant	-	NC_000023.11:g.48511439A>G	TOPMed
rs781840158	p.Arg95Gln	missense variant	-	NC_000023.11:g.48511442G>A	1000Genomes,ExAC,gnomAD
rs782167731	p.Val97Ile	missense variant	-	chrX:g.48511447G>A	NCI-TCGA,NCI-TCGA Cosmic
rs782167731	p.Val97Ile	missense variant	-	NC_000023.11:g.48511447G>A	ExAC,TOPMed,gnomAD
rs1556973881	p.Ser100Phe	missense variant	-	NC_000023.11:g.48511457C>T	gnomAD
rs1375643182	p.Val101Ala	missense variant	-	NC_000023.11:g.48511460T>C	TOPMed
rs182435804	p.Val101Ile	missense variant	-	NC_000023.11:g.48511459G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs781809933	p.Thr102Ala	missense variant	-	NC_000023.11:g.48511462A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu107Ile	missense variant	-	chrX:g.48511477C>A	NCI-TCGA
rs1441752339	p.Leu108Ile	missense variant	-	NC_000023.11:g.48511480C>A	TOPMed,gnomAD
rs781857161	p.Met109Val	missense variant	-	NC_000023.11:g.48511483A>G	1000Genomes,ExAC,gnomAD
rs781869078	p.Met109Ile	missense variant	-	NC_000023.11:g.48511485G>C	ExAC,TOPMed,gnomAD
rs781869078	p.Met109Ile	missense variant	-	NC_000023.11:g.48511485G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu111Asp	missense variant	-	chrX:g.48511895G>T	NCI-TCGA
rs782565137	p.Met112Ile	missense variant	-	NC_000023.11:g.48511898G>A	ExAC,TOPMed,gnomAD
rs782485813	p.Val118Met	missense variant	-	NC_000023.11:g.48511914G>A	ExAC,gnomAD
RCV000011448	p.Arg124Ter	nonsense	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48511932C>T	ClinVar
rs137852218	p.Arg124Ter	stop gained	Focal dermal hypoplasia (fdh)	NC_000023.11:g.48511932C>T	-
rs137852218	p.Arg124Ter	stop gained	-	chrX:g.48511932C>T	NCI-TCGA
RCV000599522	p.Arg124Ter	nonsense	-	NC_000023.11:g.48511932C>T	ClinVar
NCI-TCGA novel	p.Gly125Glu	missense variant	-	chrX:g.48512326G>A	NCI-TCGA
rs782484003	p.Val130Leu	missense variant	-	NC_000023.11:g.48512340G>T	ExAC,gnomAD
NCI-TCGA novel	p.Val130Met	missense variant	-	chrX:g.48512340G>A	NCI-TCGA
RCV000782087	p.Met132Arg	missense variant	-	NC_000023.11:g.48512347T>G	ClinVar
NCI-TCGA novel	p.Lys133Met	missense variant	-	chrX:g.48512350A>T	NCI-TCGA
rs369572234	p.Val135Ala	missense variant	-	NC_000023.11:g.48512356T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser136Tyr	missense variant	-	chrX:g.48512359C>A	NCI-TCGA
VAR_058899	p.Ser136Phe	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
COSM1122067	p.Leu137Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48512361C>A	NCI-TCGA Cosmic
rs1250156905	p.Asp140Asn	missense variant	-	NC_000023.11:g.48512370G>A	TOPMed
rs781876014	p.Arg143Trp	missense variant	-	NC_000023.11:g.48512379C>T	ExAC,TOPMed,gnomAD
rs1556974116	p.Glu145Lys	missense variant	-	NC_000023.11:g.48512385G>A	gnomAD
rs782698533	p.Val146Ala	missense variant	-	NC_000023.11:g.48512389T>C	ExAC,gnomAD
rs1202991912	p.Gly147Asp	missense variant	-	NC_000023.11:g.48512392G>A	TOPMed
NCI-TCGA novel	p.Gly147Asp	missense variant	-	chrX:g.48512392G>A	NCI-TCGA
rs782273836	p.Thr148Met	missense variant	-	chrX:g.48512395C>T	NCI-TCGA
rs1350683332	p.Thr148Ser	missense variant	-	NC_000023.11:g.48512394A>T	TOPMed
rs782273836	p.Thr148Met	missense variant	-	NC_000023.11:g.48512395C>T	ExAC,TOPMed,gnomAD
rs782273836	p.Thr148Arg	missense variant	-	NC_000023.11:g.48512395C>G	ExAC,TOPMed,gnomAD
rs782001992	p.Val149Met	missense variant	-	NC_000023.11:g.48512397G>A	1000Genomes,ExAC,gnomAD
rs145839490	p.Ser151Leu	missense variant	-	NC_000023.11:g.48512404C>T	ESP,TOPMed
RCV000601293	p.Ser151Leu	missense variant	-	NC_000023.11:g.48512404C>T	ClinVar
rs781980129	p.Val153Met	missense variant	-	NC_000023.11:g.48512409G>A	ExAC,gnomAD
rs1469746981	p.Glu154Gln	missense variant	-	NC_000023.11:g.48512412G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Phe155Leu	missense variant	-	chrX:g.48512417C>A	NCI-TCGA
NCI-TCGA novel	p.Gly157Asp	missense variant	-	chrX:g.48512422G>A	NCI-TCGA
rs782294930	p.Tyr160Asn	missense variant	-	NC_000023.11:g.48512430T>A	ExAC,gnomAD
rs782400994	p.Tyr160Cys	missense variant	-	NC_000023.11:g.48512431A>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr160Ter	stop gained	-	chrX:g.48512432C>A	NCI-TCGA
rs1386381284	p.Val162Met	missense variant	-	NC_000023.11:g.48512436G>A	TOPMed,gnomAD
rs781926599	p.Ile165Val	missense variant	-	chrX:g.48512445A>G	NCI-TCGA,NCI-TCGA Cosmic
rs781926599	p.Ile165Val	missense variant	-	NC_000023.11:g.48512445A>G	ExAC,TOPMed,gnomAD
rs986541030	p.Val166Ile	missense variant	-	NC_000023.11:g.48512448G>A	TOPMed,gnomAD
COSM1468210	p.Val166Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48512448G>A	NCI-TCGA Cosmic
VAR_058900	p.Gly168Arg	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
NCI-TCGA novel	p.Trp170Ter	stop gained	-	chrX:g.48512462G>A	NCI-TCGA
rs1556974164	p.Gln178Arg	missense variant	-	NC_000023.11:g.48512485A>G	gnomAD
rs370199558	p.Arg183His	missense variant	-	NC_000023.11:g.48512500G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs868950224	p.Arg183Cys	missense variant	-	NC_000023.11:g.48512499C>T	gnomAD
NCI-TCGA novel	p.Pro184Thr	missense variant	-	chrX:g.48512502C>A	NCI-TCGA
rs782806598	p.Arg188Trp	missense variant	-	NC_000023.11:g.48512595C>T	1000Genomes,ExAC,gnomAD
rs782707873	p.Arg188Gln	missense variant	-	NC_000023.11:g.48512596G>A	ExAC,TOPMed,gnomAD
rs1057519006	p.Trp189Arg	missense variant	-	NC_000023.11:g.48512598T>C	-
RCV000414798	p.Trp189Arg	missense variant	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48512598T>C	ClinVar
rs1349362893	p.Arg195Gln	missense variant	-	NC_000023.11:g.48512617G>A	TOPMed,gnomAD
rs1556974201	p.Arg195Trp	missense variant	-	NC_000023.11:g.48512616C>T	gnomAD
NCI-TCGA novel	p.Ala198HisPheSerTerUnkUnk	frameshift	-	chrX:g.48512624G>-	NCI-TCGA
rs1556974206	p.Ala200Thr	missense variant	-	NC_000023.11:g.48512631G>A	gnomAD
rs782482532	p.Leu201Pro	missense variant	-	NC_000023.11:g.48512635T>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys203Ser	missense variant	-	chrX:g.48512641G>C	NCI-TCGA
rs1247727749	p.Val205Leu	missense variant	-	NC_000023.11:g.48512646G>T	TOPMed
COSM3561939	p.Ser207Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48512653C>T	NCI-TCGA Cosmic
COSM4109751	p.Gly211Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48512665G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro212Ser	missense variant	-	chrX:g.48512667C>T	NCI-TCGA
rs1556974223	p.Pro216Leu	missense variant	-	NC_000023.11:g.48512680C>T	TOPMed,gnomAD
rs1556974223	p.Pro216Arg	missense variant	-	NC_000023.11:g.48512680C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro216Thr	missense variant	-	chrX:g.48512679C>A	NCI-TCGA
rs930225411	p.Pro220Leu	missense variant	-	NC_000023.11:g.48512692C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu221SerPheSerTerUnkUnk	frameshift	-	chrX:g.48512690C>-	NCI-TCGA
rs1398971930	p.Gly223Ser	missense variant	-	NC_000023.11:g.48512700G>A	TOPMed,gnomAD
COSM462219	p.Asp224His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48512703G>C	NCI-TCGA Cosmic
rs143554153	p.Arg225Cys	missense variant	-	NC_000023.11:g.48512706C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370900825	p.Arg225His	missense variant	-	NC_000023.11:g.48512707G>A	ExAC,gnomAD
rs143554153	p.Arg225Cys	missense variant	-	chrX:g.48512706C>T	NCI-TCGA
rs1556974235	p.Arg228Cys	missense variant	-	NC_000023.11:g.48512715C>T	gnomAD
rs373691543	p.Arg228His	missense variant	-	NC_000023.11:g.48512716G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373691543	p.Arg228His	missense variant	-	chrX:g.48512716G>A	NCI-TCGA,NCI-TCGA Cosmic
VAR_058901	p.Arg228Cys	Missense	-	-	UniProt
rs148060082	p.Arg232His	missense variant	-	NC_000023.11:g.48512843G>A	ESP,gnomAD
rs148060082	p.Arg232His	missense variant	-	chrX:g.48512843G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1556974603	p.Gly236Val	missense variant	-	NC_000023.11:g.48514129G>T	gnomAD
rs1556974610	p.Val239Ile	missense variant	-	NC_000023.11:g.48514137G>A	gnomAD
rs782478160	p.Glu246Gln	missense variant	-	NC_000023.11:g.48514256G>C	ExAC,gnomAD
COSM1122070	p.Glu246Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514256G>A	NCI-TCGA Cosmic
COSM6187349	p.Ala248Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514262G>T	NCI-TCGA Cosmic
rs782285872	p.Ser250Cys	missense variant	-	NC_000023.11:g.48514269C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser250Thr	missense variant	-	chrX:g.48514268T>A	NCI-TCGA
COSM3561940	p.Ser250Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514269C>T	NCI-TCGA Cosmic
VAR_065189	p.His252Tyr	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
rs1453629697	p.Phe253Leu	missense variant	-	NC_000023.11:g.48514279C>G	TOPMed
rs1556974674	p.Val258Met	missense variant	-	NC_000023.11:g.48514292G>A	gnomAD
VAR_058902	p.Val258Glu	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
rs370092224	p.Leu261Val	missense variant	-	NC_000023.11:g.48514301C>G	ESP,ExAC,gnomAD
COSM3561941	p.Leu261Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514301C>T	NCI-TCGA Cosmic
rs1556974682	p.Glu263Lys	missense variant	-	NC_000023.11:g.48514307G>A	-
RCV000523172	p.Glu263Lys	missense variant	-	NC_000023.11:g.48514307G>A	ClinVar
rs200707168	p.Thr265Met	missense variant	-	NC_000023.11:g.48514314C>T	ESP,ExAC,TOPMed,gnomAD
rs200707168	p.Thr265Met	missense variant	-	chrX:g.48514314C>T	NCI-TCGA,NCI-TCGA Cosmic
rs782131250	p.Ala266Val	missense variant	-	NC_000023.11:g.48514317C>T	ExAC,gnomAD
rs782751723	p.Thr267Met	missense variant	-	NC_000023.11:g.48514320C>T	ExAC,TOPMed,gnomAD
rs369672830	p.Ala269Thr	missense variant	-	NC_000023.11:g.48514325G>A	ESP,ExAC,TOPMed,gnomAD
COSM4109752	p.Ala269Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514326C>T	NCI-TCGA Cosmic
rs782730333	p.Ala271Val	missense variant	-	NC_000023.11:g.48514332C>T	ExAC,gnomAD
rs1556974716	p.Gly272Cys	missense variant	-	NC_000023.11:g.48514334G>T	gnomAD
rs1284094279	p.Phe273Leu	missense variant	-	NC_000023.11:g.48514337T>C	TOPMed,gnomAD
COSM3561943	p.Thr274Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514341C>T	NCI-TCGA Cosmic
rs782735906	p.Glu275Lys	missense variant	-	NC_000023.11:g.48514343G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu281AspPheSerTerUnk	frameshift	-	chrX:g.48514362A>-	NCI-TCGA
rs782389526	p.Asp283Asn	missense variant	-	NC_000023.11:g.48514526G>A	ExAC,TOPMed
rs782389526	p.Asp283His	missense variant	-	NC_000023.11:g.48514526G>C	ExAC,TOPMed
NCI-TCGA novel	p.Asp283Gly	missense variant	-	chrX:g.48514527A>G	NCI-TCGA
NCI-TCGA novel	p.Leu284Arg	missense variant	-	chrX:g.48514530T>G	NCI-TCGA
RCV000664205	p.Thr285Ter	frameshift	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48514532_48514533delinsCCCCCAG	ClinVar
rs369163583	p.Thr285Met	missense variant	-	NC_000023.11:g.48514533C>T	ESP,ExAC,TOPMed,gnomAD
rs372673870	p.Asn291Thr	missense variant	-	NC_000023.11:g.48514551A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn291His	missense variant	-	chrX:g.48514550A>C	NCI-TCGA
NCI-TCGA novel	p.Val292Ala	missense variant	-	chrX:g.48514554T>C	NCI-TCGA
NCI-TCGA novel	p.Ser297Ala	missense variant	-	chrX:g.48514568T>G	NCI-TCGA
VAR_065190	p.Ser297Leu	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
rs782354406	p.Met298Val	missense variant	-	NC_000023.11:g.48514571A>G	ExAC,gnomAD
rs1158822302	p.Val299Ala	missense variant	-	NC_000023.11:g.48514575T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val302Phe	missense variant	-	chrX:g.48514583G>T	NCI-TCGA
COSM3561945	p.Trp305Ter	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.48514594G>A	NCI-TCGA Cosmic
COSM3965292	p.Asn306Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514597C>A	NCI-TCGA Cosmic
rs1240399258	p.Pro308Ser	missense variant	-	NC_000023.11:g.48514601C>T	TOPMed,gnomAD
rs781963757	p.Met309Val	missense variant	-	NC_000023.11:g.48514604A>G	ExAC,gnomAD
rs969004771	p.Ser310Thr	missense variant	-	NC_000023.11:g.48514607T>A	TOPMed,gnomAD
COSM1122072	p.Trp312Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514613T>C	NCI-TCGA Cosmic
rs782356180	p.Tyr316Phe	missense variant	-	NC_000023.11:g.48515717A>T	1000Genomes,ExAC,gnomAD
rs1264797373	p.Val317Leu	missense variant	-	NC_000023.11:g.48515719G>C	TOPMed
rs782200118	p.Leu322Phe	missense variant	-	NC_000023.11:g.48515734C>T	ExAC,gnomAD
rs782308739	p.Arg323Cys	missense variant	-	chrX:g.48515737C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM6187348	p.Arg323Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48515738G>T	NCI-TCGA Cosmic
rs373433770	p.Arg323His	missense variant	-	NC_000023.11:g.48515738G>A	ESP,ExAC,TOPMed,gnomAD
rs782308739	p.Arg323Cys	missense variant	-	NC_000023.11:g.48515737C>T	ExAC,gnomAD
rs1556975122	p.Thr326Ile	missense variant	-	NC_000023.11:g.48515747C>T	gnomAD
rs782216315	p.Thr326Ser	missense variant	-	NC_000023.11:g.48515746A>T	ExAC,gnomAD
rs782216315	p.Thr326Pro	missense variant	-	NC_000023.11:g.48515746A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser328Leu	missense variant	-	chrX:g.48515753C>T	NCI-TCGA
rs1282968648	p.Ala329Gly	missense variant	-	NC_000023.11:g.48515756C>G	TOPMed,gnomAD
VAR_065191	p.Leu331Arg	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
rs200613551	p.Ala335Val	missense variant	-	NC_000023.11:g.48515774C>T	1000Genomes,TOPMed,gnomAD
NCI-TCGA novel	p.Ala335Thr	missense variant	-	chrX:g.48515773G>A	NCI-TCGA
rs141810375	p.Ala336Gly	missense variant	-	NC_000023.11:g.48515777C>G	ESP,ExAC,TOPMed,gnomAD
rs782558992	p.Ala338Thr	missense variant	-	chrX:g.48515782G>A	NCI-TCGA
rs782172331	p.Ala338Gly	missense variant	-	NC_000023.11:g.48515783C>G	ExAC,TOPMed,gnomAD
rs782558992	p.Ala338Thr	missense variant	-	NC_000023.11:g.48515782G>A	TOPMed,gnomAD
VAR_058903	p.His341Leu	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
rs782109678	p.Ala349Thr	missense variant	-	NC_000023.11:g.48515911G>A	ExAC,gnomAD
RCV000011446	p.Thr358Ter	frameshift	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48515925_48515937dup	ClinVar
rs781844031	p.Val360Met	missense variant	-	NC_000023.11:g.48515944G>A	ExAC,gnomAD
VAR_065192	p.Glu361Val	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
rs398124616	p.Arg365Trp	missense variant	-	chrX:g.48516066C>T	NCI-TCGA,NCI-TCGA Cosmic
rs398124616	p.Arg365Trp	missense variant	-	NC_000023.11:g.48516066C>T	-
RCV000082826	p.Arg365Trp	missense variant	-	NC_000023.11:g.48516066C>T	ClinVar
VAR_035090	p.Arg365Gly	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
VAR_058904	p.Arg365Gln	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
rs781890070	p.Arg367His	missense variant	-	chrX:g.48516073G>A	NCI-TCGA
rs1245335951	p.Arg367Ser	missense variant	-	NC_000023.11:g.48516072C>A	TOPMed,gnomAD
rs781890070	p.Arg367His	missense variant	-	NC_000023.11:g.48516073G>A	ExAC,gnomAD
rs1245335951	p.Arg367Cys	missense variant	-	NC_000023.11:g.48516072C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg367Cys	missense variant	-	chrX:g.48516072C>T	NCI-TCGA
rs782434374	p.Arg370Trp	missense variant	-	NC_000023.11:g.48516081C>T	ExAC,gnomAD
rs387906723	p.Arg370Gln	missense variant	-	chrX:g.48516082G>A	NCI-TCGA,NCI-TCGA Cosmic
rs387906723	p.Arg370Gln	missense variant	Focal dermal hypoplasia (fdh)	NC_000023.11:g.48516082G>A	ExAC,TOPMed,gnomAD
RCV000022872	p.Arg370Gln	missense variant	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48516082G>A	ClinVar
VAR_066061	p.Ala374Pro	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
NCI-TCGA novel	p.Val376Ala	missense variant	-	chrX:g.48516100T>C	NCI-TCGA
rs1064795419	p.Ser378Leu	missense variant	-	NC_000023.11:g.48516106C>T	-
RCV000486452	p.Ser378Leu	missense variant	-	NC_000023.11:g.48516106C>T	ClinVar
rs782631909	p.Arg380Gln	missense variant	-	NC_000023.11:g.48516112G>A	ExAC,TOPMed,gnomAD
rs782631909	p.Arg380Gln	missense variant	-	chrX:g.48516112G>A	NCI-TCGA,NCI-TCGA Cosmic
rs782208997	p.Arg380Trp	missense variant	-	chrX:g.48516111C>T	NCI-TCGA
rs782208997	p.Arg380Trp	missense variant	-	NC_000023.11:g.48516111C>T	ExAC,gnomAD
VAR_065193	p.Cys385Tyr	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
VAR_058905	p.Cys385Arg	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
rs900532510	p.Ser386Trp	missense variant	-	NC_000023.11:g.48516130C>G	TOPMed
rs900532510	p.Ser386Leu	missense variant	-	NC_000023.11:g.48516130C>T	TOPMed
NCI-TCGA novel	p.Ser386Leu	missense variant	-	chrX:g.48516130C>T	NCI-TCGA
rs781938117	p.His389Arg	missense variant	-	NC_000023.11:g.48516139A>G	ExAC,gnomAD
rs1556975323	p.Arg390His	missense variant	-	NC_000023.11:g.48516142G>A	gnomAD
COSM462218	p.Arg390Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48516141C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu391Phe	missense variant	-	chrX:g.48516146G>C	NCI-TCGA
rs1449007234	p.Leu393Pro	missense variant	-	NC_000023.11:g.48517187T>C	TOPMed,gnomAD
rs1556975565	p.Gly394Glu	missense variant	-	NC_000023.11:g.48517190G>A	gnomAD
rs199508142	p.Arg396Gln	missense variant	-	NC_000023.11:g.48517196G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1556975578	p.Leu401Phe	missense variant	-	NC_000023.11:g.48517210C>T	gnomAD
rs782685845	p.Phe402Val	missense variant	-	NC_000023.11:g.48517213T>G	ExAC,gnomAD
rs1466714216	p.Gly403Arg	missense variant	-	NC_000023.11:g.48517216G>A	TOPMed
rs1556975587	p.Ala404Val	missense variant	-	NC_000023.11:g.48517220C>T	gnomAD
rs781834255	p.Ala406Thr	missense variant	-	chrX:g.48517225G>A	NCI-TCGA,NCI-TCGA Cosmic
rs781834255	p.Ala406Thr	missense variant	-	NC_000023.11:g.48517225G>A	ExAC,gnomAD
rs966088285	p.Leu410Val	missense variant	-	NC_000023.11:g.48517237C>G	gnomAD
rs966088285	p.Leu410Met	missense variant	-	NC_000023.11:g.48517237C>A	gnomAD
rs1057517951	p.Phe417Ser	missense variant	-	NC_000023.11:g.48517259T>C	-
RCV000414381	p.Phe417Ser	missense variant	-	NC_000023.11:g.48517259T>C	ClinVar
rs932266351	p.Asp420His	missense variant	-	NC_000023.11:g.48517267G>C	gnomAD
rs932266351	p.Asp420Asn	missense variant	-	NC_000023.11:g.48517267G>A	gnomAD
rs984923291	p.Val421Met	missense variant	-	NC_000023.11:g.48517270G>A	TOPMed
rs1380762250	p.Asp422Gly	missense variant	-	NC_000023.11:g.48517274A>G	TOPMed,gnomAD
rs1180443918	p.Thr424Asn	missense variant	-	NC_000023.11:g.48517280C>A	TOPMed,gnomAD
rs146322406	p.Thr425Ile	missense variant	-	NC_000023.11:g.48517283C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1556975628	p.Glu427Gln	missense variant	-	NC_000023.11:g.48517288G>C	gnomAD
rs1556975628	p.Glu427Ter	stop gained	-	NC_000023.11:g.48517288G>T	gnomAD
rs1556976185	p.Tyr430Phe	missense variant	-	NC_000023.11:g.48520379A>T	gnomAD
rs782065862	p.Gly431Ser	missense variant	-	NC_000023.11:g.48520381G>A	ExAC,TOPMed,gnomAD
RCV000490242	p.Gly431Arg	missense variant	-	NC_000023.11:g.48520381G>C	ClinVar
rs782065862	p.Gly431Arg	missense variant	-	NC_000023.11:g.48520381G>C	ExAC,TOPMed,gnomAD
rs192546852	p.Met432Val	missense variant	-	NC_000023.11:g.48520384A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs192546852	p.Met432Leu	missense variant	-	NC_000023.11:g.48520384A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs192546852	p.Met432Leu	missense variant	-	NC_000023.11:g.48520384A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1318551935	p.His437Tyr	missense variant	-	NC_000023.11:g.48520399C>T	TOPMed
rs1456810344	p.Lys438Arg	missense variant	-	NC_000023.11:g.48520403A>G	TOPMed,gnomAD
VAR_058906	p.Trp439Arg	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
rs1395434209	p.Glu441Asp	missense variant	-	NC_000023.11:g.48520413G>C	TOPMed,gnomAD
COSM457580	p.Glu441Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48520412A>T	NCI-TCGA Cosmic
rs375162701	p.Ser443Thr	missense variant	-	NC_000023.11:g.48520418G>C	ESP,TOPMed
rs1422327946	p.Ala445Thr	missense variant	-	NC_000023.11:g.48520423G>A	TOPMed
rs1412795119	p.Ser446Gly	missense variant	-	NC_000023.11:g.48520426A>G	TOPMed
rs1186949321	p.Trp448Cys	missense variant	-	NC_000023.11:g.48520434G>C	TOPMed
rs781842192	p.Phe451Ser	missense variant	-	NC_000023.11:g.48520442T>C	ExAC,gnomAD
rs369356344	p.Ile455Val	missense variant	-	NC_000023.11:g.48520453A>G	ESP,ExAC,TOPMed,gnomAD
rs369356344	p.Ile455Phe	missense variant	-	NC_000023.11:g.48520453A>T	ESP,ExAC,TOPMed,gnomAD
COSM488401	p.Ile455Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48520454T>G	NCI-TCGA Cosmic
rs1556976227	p.Arg458Cys	missense variant	-	NC_000023.11:g.48520462C>T	gnomAD
rs200659583	p.Arg458His	missense variant	-	NC_000023.11:g.48520463G>A	ExAC,TOPMed,gnomAD
COSM1122075	p.Arg458Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48520462C>T	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0002170	Alopecia	disease	HPO
C0003076	Aniridia	disease	HPO
C0003119	Anophthalmos	disease	HPO
C0003803	Arnold Chiari Malformation	disease	HPO
C0008924	Cleft upper lip	disease	HPO
C0009363	Congenital ocular coloboma (disorder)	disease	GENOMICS_ENGLAND
C0010038	Corneal Opacity	phenotype	HPO
C0010417	Cryptorchidism	disease	HPO
C0011053	Deafness	phenotype	HPO
C0011351	Dental Enamel Hypoplasia	disease	HPO
C0013575	Ectodermal Dysplasia	disease	BEFREE
C0013581	Ectopia Lentis	disease	HPO
C0016395	Focal Dermal Hypoplasia	disease	BEFREE;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
C0018772	Hearing Loss, Partial	phenotype	HPO
C0019294	Hernia, Inguinal	phenotype	HPO
C0019322	Umbilical hernia	phenotype	HPO
C0019555	Hip Dislocation, Congenital	disease	HPO
C0020255	Hydrocephalus	disease	HPO
C0020295	Hydronephrosis	disease	HPO
C0020608	Hypodontia	disease	HPO
C0023221	Leg Length Inequality	phenotype	HPO
C0023309	Lens dislocation	phenotype	HPO
C0024121	Lung Neoplasms	group	LHGDN
C0024636	Malocclusion	phenotype	HPO
C0025312	Meningomyelocele	disease	HPO
C0025362	Mental Retardation	disease	HPO
C0026010	Microphthalmos	disease	BEFREE;HPO
C0027339	Nail Diseases	group	HPO
C0028738	Nystagmus	disease	HPO
C0029124	Optic Atrophy	disease	HPO
C0030354	Papilloma	disease	HPO
C0037932	Curvature of spine	phenotype	HPO
C0038379	Strabismus	disease	HPO
C0039446	Telangiectasis	disease	HPO
C0040427	Tooth Abnormalities	group	HPO
C0041834	Erythema	phenotype	HPO
C0042798	Low Vision	disease	HPO
C0080174	Spina Bifida Occulta	disease	HPO
C0080178	Spina Bifida	disease	HPO
C0086437	Joint laxity	phenotype	HPO
C0151811	Subcutaneous nodule	phenotype	HPO
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0155552	Hearing Loss, Mixed Conductive-Sensorineural	disease	HPO
C0158733	Hand polydactyly	disease	HPO
C0158734	Polydactyly of toes	disease	HPO
C0175754	Agenesis of corpus callosum	disease	HPO
C0221210	Congenital malrotation of intestine	disease	HPO
C0221260	Dystrophia unguium	disease	HPO
C0221352	Syndactyly of fingers	disease	HPO
C0221353	Horseshoe Kidney	disease	HPO
C0221357	Brachydactyly	disease	HPO
C0221365	Double ureter	disease	HPO
C0221373	Claw hand	disease	HPO
C0221766	Diastasis recti	phenotype	HPO
C0234632	Reduced visual acuity	phenotype	HPO
C0235833	Congenital diaphragmatic hernia	disease	HPO
C0239174	Late tooth eruption	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0239594	Short finger	phenotype	HPO
C0240063	Coloboma of iris	phenotype	HPO
C0240896	Fundus coloboma	disease	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0263490	Brittle hair	disease	HPO
C0265513	Osteopathia striata	disease	HPO
C0265660	Syndactyly of the toes	disease	HPO
C0266011	Accessory nipple	phenotype	HPO
C0266061	Open Bite	phenotype	HPO
C0282102	Chondrodysplasia punctata, X-linked dominant type	disease	BEFREE
C0332573	Macule	phenotype	HPO
C0338656	Impaired cognition	disease	HPO
C0339789	Congenital deafness	disease	HPO
C0344539	Hypoplasia of iris	disease	HPO
C0349588	Short stature	phenotype	HPO
C0395837	Stenosis of external auditory canal	disease	HPO
C0409348	Flexion contracture of proximal interphalangeal joint	phenotype	HPO
C0423757	Thin skin	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0426422	Narrow nose	phenotype	HPO
C0426429	Broad nasal tip	phenotype	HPO
C0426799	Congenital hypoplasia of clavicle	disease	HPO
C0426817	Short ribs	phenotype	HPO
C0431483	Simple ear	phenotype	HPO
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0432028	Split foot	disease	HPO
C0432355	Hypoplasia of nipple	disease	HPO
C0521719	Clouding of corneal stroma	disease	HPO
C0559483	Pentalogy of Cantrell	disease	BEFREE
C0576860	Narrowing of ear canal	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0683322	Mental impairment	disease	HPO
C0684249	Carcinoma of lung	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0728895	Absent finger	disease	HPO
C0746926	Multiple, subcutaneous nodules	disease	HPO
C0795690	Congenital omphalocele	disease	HPO
C0796070	MICROPHTHALMIA, SYNDROMIC 7	disease	BEFREE
C0853087	Nail abnormality	phenotype	HPO
C0857379	Abnormality of the pinna	phenotype	HPO
C0877165	Short phalanx of finger	phenotype	HPO
C0917816	Mental deficiency	disease	HPO
C1138421	Spider Veins	phenotype	HPO
C1260926	Abnormal pigmentation	phenotype	HPO
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1306710	Facial asymmetry	phenotype	HPO
C1384666	hearing impairment	phenotype	HPO
C1834405	Nail dysplasia	disease	HPO
C1837084	Short metacarpal	phenotype	HPO
C1837770	Sparse hair	phenotype	HPO
C1838705	Anteriorly placed anus	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1844505	Pointed chin	phenotype	HPO
C1844527	Clitoral hypoplasia	phenotype	HPO
C1844529	Midclavicular aplasia	phenotype	HPO
C1844530	Midclavicular hypoplasia	phenotype	HPO
C1844537	Cleft ala nasi	phenotype	HPO
C1844548	Hypoplastic finger	phenotype	HPO
C1844554	Absent fingernail	disease	HPO
C1844555	Absent toenail	disease	HPO
C1849020	Short metatarsal	phenotype	HPO
C1850325	Labial hypoplasia	phenotype	HPO
C1851854	Thin dental enamel	phenotype	HPO
C1851868	Reduced tensile strength of hair	phenotype	HPO
C1851972	Reticular hyperpigmentation	phenotype	HPO
C1860844	Thin, sparse hair	phenotype	HPO
C1861141	Abnormality of the middle ear	phenotype	HPO
C1862862	Patchy alopecia	phenotype	HPO
C1970705	Fragile hair	phenotype	HPO
C2981150	Uranostaphyloschisis	disease	HPO
C3278658	Linear hyperpigmentation	phenotype	HPO
C3489393	Hiatal Hernia	disease	HPO
C3536734	Hypoplastic pelvis	phenotype	HPO
C3665347	Visual Impairment	phenotype	HPO
C3714581	Multicystic Dysplastic Kidney	disease	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3887498	Bifid ureter	disease	HPO
C4020876	Dull intelligence	phenotype	HPO
C4020891	Pinched nasal bridge	phenotype	HPO
C4020958	Rough bone trabeculation	phenotype	HPO
C4021611	Abnormality of epiphysis morphology	phenotype	HPO
C4021777	Abnormality of the larynx	phenotype	HPO
C4021800	Abnormality of dental enamel	phenotype	HPO
C4022018	Telangiectasia of the skin	phenotype	HPO
C4022024	Upper limb asymmetry	phenotype	HPO
C4024202	Reduced number of teeth	phenotype	HPO
C4025810	Abnormal palmar dermatoglyphics	phenotype	HPO
C4072837	Fractured hair	phenotype	HPO
C4082304	Oligodontia	disease	HPO
C4083050	Tooth agenesis	phenotype	HPO
C4280262	Dystrophic tooth enamel	phenotype	HPO
C4280456	Dysplasia of tooth enamel	phenotype	HPO
C4280457	Defective enamel matrix	phenotype	HPO
C4280613	Angle class 3 malocclusion	phenotype	HPO
C4280614	Angle class 2 malocclusion	disease	HPO
C4280615	Defective tooth enamel	phenotype	HPO
C4280619	Missing more than six teeth	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280630	Pinched bridge of nose	phenotype	HPO
C4280808	Abnormally small eyeball	phenotype	HPO
C4281601	Foot oligodactyly	phenotype	HPO
C4476535	Nostril coloboma	disease	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0017147	Wnt-protein binding	IEA
GO:1990698	palmitoleoyltransferase activity	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006497	protein lipidation	ISS
GO:0009100	glycoprotein metabolic process	IEA
GO:0016055	Wnt signaling pathway	ISS
GO:0045234	protein palmitoleylation	ISS
GO:0060070	canonical Wnt signaling pathway	IEA
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005783	endoplasmic reticulum	ISS
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0030176	integral component of endoplasmic reticulum membrane	IEA
GO:0032281	AMPA glutamate receptor complex	IEA
GO:0098978	glutamatergic synapse	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	IEA
R-HSA-1643685	Disease	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-3238698	WNT ligand biogenesis and trafficking	IEA
R-HSA-4791275	Signaling by WNT in cancer	TAS
R-HSA-5340573	WNT ligand secretion is abrogated by the PORCN inhibitor LGK974	TAS
R-HSA-5663202	Diseases of signal transduction	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of PORCN mRNA	27291303
D000079	Acetaldehyde	Acetaldehyde affects the expression of PORCN mRNA	22634333
D000082	Acetaminophen	Acetaminophen results in increased expression of PORCN mRNA	22230336
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of PORCN mRNA	19770486
D001151	Arsenic	Arsenic results in decreased expression of PORCN mRNA	28615018
D001280	Atrazine	Atrazine results in decreased expression of PORCN mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PORCN mRNA	19770486; 21715664;
C006780	bisphenol A	bisphenol A results in decreased expression of PORCN mRNA	25963729
C006780	bisphenol A	bisphenol A results in increased expression of PORCN mRNA	25181051
C006780	bisphenol A	Curcumin inhibits the reaction [bisphenol A results in decreased expression of PORCN mRNA]	25963729
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in increased expression of PORCN mRNA	25270620
C059041	calyculin A	calyculin A results in decreased expression of PORCN mRNA	25270620
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of PORCN mRNA	31150632
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of PORCN mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of PORCN mRNA	27392435
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PORCN mRNA	24386269
D003474	Curcumin	Curcumin inhibits the reaction [bisphenol A results in decreased expression of PORCN mRNA]	25963729
D003474	Curcumin	Curcumin results in increased expression of PORCN mRNA	25963729
D000077209	Decitabine	Decitabine results in increased expression of PORCN mRNA	27915011
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of PORCN mRNA]	27941970
D004041	Dietary Fats	Dietary Fats results in decreased expression of PORCN mRNA	30120929
D004237	Diuron	Diuron results in increased expression of PORCN mRNA	21551480
D004317	Doxorubicin	Doxorubicin results in decreased expression of PORCN mRNA	29803840
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of PORCN mRNA	20660070
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of PORCN mRNA	30165855
D000431	Ethanol	Ethanol affects the splicing of PORCN mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of PORCN mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PORCN mRNA	17942748
C061365	flusilazole	flusilazole affects the expression of PORCN mRNA	22634333
C069837	fullerene C60	fullerene C60 results in decreased expression of PORCN mRNA	19167457
D006534	Heptachlor Epoxide	Heptachlor Epoxide results in increased expression of PORCN mRNA	25270620
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of PORCN mRNA	27392435
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of PORCN mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of PORCN mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of PORCN mRNA	25554681
C028007	nickel monoxide	nickel monoxide results in decreased expression of PORCN mRNA	19167457
C029938	nickel sulfate	nickel sulfate results in increased expression of PORCN mRNA	16780908
C007350	nitrofen	nitrofen results in decreased expression of PORCN mRNA	26720608
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of PORCN mRNA	20188158
C500026	palbociclib	palbociclib results in increased expression of PORCN mRNA	22869556
D052638	Particulate Matter	Particulate Matter results in increased expression of PORCN mRNA	28412507; 29703138;
D010634	Phenobarbital	Phenobarbital affects the expression of PORCN mRNA	19159669
D010634	Phenobarbital	Phenobarbital affects the expression of PORCN mRNA	19136022
C006253	pirinixic acid	NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of PORCN mRNA]	17950772
C006253	pirinixic acid	pirinixic acid affects the expression of PORCN mRNA	19136022
C006253	pirinixic acid	pirinixic acid results in decreased expression of PORCN mRNA	17950772; 23811191; 25270620;
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of PORCN mRNA	20660070
D012906	Smoke	Smoke results in increased expression of PORCN mRNA	21095227
D018038	Sodium Selenite	Sodium Selenite results in increased expression of PORCN mRNA	18175754; 24383545;
D012999	Soman	Soman results in decreased expression of PORCN mRNA	19281266
D000077210	Sunitinib	Sunitinib results in decreased expression of PORCN mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PORCN mRNA	19770486; 26290441;
D013853	Thioacetamide	Thioacetamide results in increased expression of PORCN mRNA	23411599
C009495	titanium dioxide	[Vitallium analog binds to titanium dioxide] which results in increased expression of PORCN mRNA	23825117
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of PORCN mRNA	19042947
D014638	Vanadates	Vanadates results in increased expression of PORCN mRNA	22714537
C025643	vinclozolin	vinclozolin results in decreased expression of PORCN mRNA	23034163
D014800	Vitallium	[Vitallium analog binds to titanium dioxide] which results in increased expression of PORCN mRNA	23825117
D014800	Vitallium	Vitallium analog results in increased expression of PORCN mRNA	23825117

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0012	Acyltransferase
KW-0025	Alternative splicing
KW-0225	Disease mutation
KW-0256	Endoplasmic reticulum
KW-0449	Lipoprotein
KW-0472	Membrane
KW-0564	Palmitate
KW-1185	Reference proteome
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR004299	MBOAT_fam

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03062	MBOAT

Gene: PORCN

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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