CleftGeneDB-Search

Gene: PIGV

Basic information

Tag	Content
Uniprot ID	Q9NUD9; D3DPL2; Q5JYG7; Q5JYG8; Q5JYG9; Q9NX26;
Entrez ID	55650
Genbank protein ID	BAA91196.1; AAH13568.1; EAX07791.1; EAX07790.1; EAX07792.1;
Genbank nucleotide ID	NM_001202554.1; NM_017837.3;
Ensembl protein ID	ENSP00000363260; ENSP00000078527;
Ensembl nucleotide ID	ENSG00000060642
Gene name	GPI mannosyltransferase 2
Gene symbol	PIGV
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.
Sequence	MWPQDPSRKE VLRFAVSCRI LTLMLQALFN AIIPDHHAEA FSPPRLAPSG FVDQLVEGLL 60 GGLSHWDAEH FLFIAEHGYL YEHNFAFFPG FPLALLVGTE LLRPLRGLLS LRSCLLISVA 120 SLNFLFFMLA AVALHDLGCL VLHCPHQSFY AALLFCLSPA NVFLAAGYSE ALFALLTFSA 180 MGQLERGRVW TSVLLFAFAT GVRSNGLVSV GFLMHSQCQG FFSSLTMLNP LRQLFKLMAS 240 LFLSVFTLGL PFALFQYYAY TQFCLPGSAR PIPEPLVQLA VDKGYRIAEG NEPPWCFWDV 300 PLIYSYIQDV YWNVGFLKYY ELKQVPNFLL AAPVAILVAW ATWTYVTTHP WLCLTLGLQR 360 SKNNKTLEKP DLGFLSPQVF VYVVHAAVLL LFGGLCMHVQ VLTRFLGSST PIMYWFPAHL 420 LQDQEPLLRS LKTVPWKPLA EDSPPGQKVP RNPIMGLLYH WKTCSPVTRY ILGYFLTYWL 480 LGLLLHCNFL PWT 493

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PIGV	519213	E1B9Z8		Bos taurus	Prediction	More>>
1:1 ortholog	PIGV	102189531	A0A452FYH8		Capra hircus	Prediction	More>>
1:1 ortholog	PIGV	55650	Q9NUD9		Homo sapiens	Prediction	More>>
1:1 ortholog	Pigv	230801	Q7TPN3	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PIGV	101059423	K7DNW1		Pan troglodytes	Prediction	More>>
1:1 ortholog	PIGV	100525584	F1STS1		Sus scrofa	Prediction	More>>
1:1 ortholog	Pigv	366478	Q5KR61		Rattus norvegicus	Prediction	More>>
1:1 ortholog	pigv	100148642	A0A0R4ITR4		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000726906	p.Trp2Ser	missense variant	-	NC_000001.11:g.26790820G>C	ClinVar
rs746851628	p.Trp2Arg	missense variant	-	NC_000001.11:g.26790819T>C	ExAC,gnomAD
rs768302053	p.Trp2Ser	missense variant	-	NC_000001.11:g.26790820G>C	ExAC,TOPMed,gnomAD
rs374162679	p.Gln4Pro	missense variant	-	NC_000001.11:g.26790826A>C	ESP,ExAC,gnomAD
rs1304154319	p.Asp5Glu	missense variant	-	NC_000001.11:g.26790830C>A	TOPMed
NCI-TCGA novel	p.Asp5Asn	missense variant	-	NC_000001.11:g.26790828G>A	NCI-TCGA
rs1321002098	p.Ser7Phe	missense variant	-	NC_000001.11:g.26790835C>T	gnomAD
rs368673102	p.Arg8Gln	missense variant	-	NC_000001.11:g.26790838G>A	ESP,ExAC,TOPMed,gnomAD
rs769363441	p.Arg8Trp	missense variant	-	NC_000001.11:g.26790837C>T	ExAC,TOPMed,gnomAD
rs368673102	p.Arg8Leu	missense variant	-	NC_000001.11:g.26790838G>T	ESP,ExAC,TOPMed,gnomAD
rs1300582712	p.Lys9Glu	missense variant	-	NC_000001.11:g.26790840A>G	gnomAD
rs1224980639	p.Leu12Pro	missense variant	-	NC_000001.11:g.26790850T>C	TOPMed
rs1234068522	p.Arg13Trp	missense variant	-	NC_000001.11:g.26790852A>T	TOPMed,gnomAD
rs1234068522	p.Arg13Gly	missense variant	-	NC_000001.11:g.26790852A>G	TOPMed,gnomAD
rs1265044679	p.Arg13Lys	missense variant	-	NC_000001.11:g.26790853G>A	gnomAD
rs1029026239	p.Phe14Leu	missense variant	-	NC_000001.11:g.26790855T>C	TOPMed,gnomAD
rs1248849575	p.Val16Ala	missense variant	-	NC_000001.11:g.26790862T>C	gnomAD
rs773837990	p.Ser17Thr	missense variant	-	NC_000001.11:g.26790865G>C	ExAC,gnomAD
rs759988046	p.Arg19Cys	missense variant	-	NC_000001.11:g.26790870C>T	ExAC,TOPMed
rs767977785	p.Arg19His	missense variant	-	NC_000001.11:g.26790871G>A	ExAC,gnomAD
rs767977785	p.Arg19His	missense variant	-	NC_000001.11:g.26790871G>A	NCI-TCGA
RCV000660523	p.Arg19Cys	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26790870C>T	ClinVar
rs764634467	p.Gln26His	missense variant	-	NC_000001.11:g.26790893G>T	ExAC
rs776006610	p.Ala27Gly	missense variant	-	NC_000001.11:g.26794114C>G	ExAC,gnomAD
rs976215465	p.Leu28Phe	missense variant	-	NC_000001.11:g.26794116C>T	TOPMed,gnomAD
rs764728447	p.Phe29Leu	missense variant	-	NC_000001.11:g.26794121C>G	ExAC,TOPMed,gnomAD
RCV000429430	p.Ile32Val	missense variant	-	NC_000001.11:g.26794128A>G	ClinVar
rs147565152	p.Ile32Val	missense variant	-	NC_000001.11:g.26794128A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139246652	p.Pro34Leu	missense variant	-	NC_000001.11:g.26794135C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000327702	p.Pro34Leu	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794135C>T	ClinVar
NCI-TCGA novel	p.Pro34Ser	missense variant	-	NC_000001.11:g.26794134C>T	NCI-TCGA
rs765217723	p.Asp35Gly	missense variant	-	NC_000001.11:g.26794138A>G	ExAC,TOPMed,gnomAD
rs1057523852	p.His37Gln	missense variant	-	NC_000001.11:g.26794145T>G	TOPMed
rs1225710259	p.Ala38Thr	missense variant	-	NC_000001.11:g.26794146G>A	TOPMed,gnomAD
rs369275802	p.Glu39Lys	missense variant	-	NC_000001.11:g.26794149G>A	ESP,ExAC,TOPMed,gnomAD
COSM4031032	p.Glu39Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794151A>C	NCI-TCGA Cosmic
RCV000765106	p.Glu39Lys	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794149G>A	ClinVar
RCV000521292	p.Glu39Lys	missense variant	-	NC_000001.11:g.26794149G>A	ClinVar
NCI-TCGA novel	p.Phe41Leu	missense variant	-	NC_000001.11:g.26794157C>A	NCI-TCGA
rs576197715	p.Ser42Cys	missense variant	-	NC_000001.11:g.26794159C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser42Tyr	missense variant	-	NC_000001.11:g.26794159C>A	NCI-TCGA
rs766531574	p.Pro44Leu	missense variant	-	NC_000001.11:g.26794165C>T	ExAC,gnomAD
rs148135928	p.Arg45His	missense variant	-	NC_000001.11:g.26794168G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752514953	p.Arg45Cys	missense variant	-	NC_000001.11:g.26794167C>T	ExAC,TOPMed,gnomAD
RCV000478841	p.Arg45Cys	missense variant	-	NC_000001.11:g.26794167C>T	ClinVar
RCV000726136	p.Arg45His	missense variant	-	NC_000001.11:g.26794168G>A	ClinVar
RCV000768044	p.Arg45His	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794168G>A	ClinVar
rs145160045	p.Ser49Ter	stop gained	-	NC_000001.11:g.26794180C>A	ESP,ExAC,TOPMed,gnomAD
rs927191319	p.Gly50Ala	missense variant	-	NC_000001.11:g.26794183G>C	TOPMed
rs756855102	p.Gly50Cys	missense variant	-	NC_000001.11:g.26794182G>T	ExAC
rs771869741	p.Asp53Gly	missense variant	-	NC_000001.11:g.26794192A>G	ExAC,gnomAD
rs779812457	p.Leu55Val	missense variant	-	NC_000001.11:g.26794197C>G	ExAC,gnomAD
rs1471512677	p.Val56Met	missense variant	-	NC_000001.11:g.26794200G>A	gnomAD
rs142252055	p.Leu59Arg	missense variant	-	NC_000001.11:g.26794210T>G	ESP,ExAC,TOPMed,gnomAD
rs777251503	p.Gly62Ser	missense variant	-	NC_000001.11:g.26794218G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly62Asp	missense variant	-	NC_000001.11:g.26794219G>A	NCI-TCGA
rs1353765826	p.Leu63Pro	missense variant	-	NC_000001.11:g.26794222T>C	TOPMed
rs762224266	p.Ser64Pro	missense variant	-	NC_000001.11:g.26794224T>C	ExAC,gnomAD
rs1430286706	p.Trp66Ter	stop gained	-	NC_000001.11:g.26794231G>A	TOPMed,gnomAD
rs534283082	p.Trp66Ter	stop gained	-	NC_000001.11:g.26794232G>A	ExAC,TOPMed,gnomAD
rs773179141	p.Asp67Asn	missense variant	-	NC_000001.11:g.26794233G>A	ExAC,TOPMed,gnomAD
rs975703223	p.His70Pro	missense variant	-	NC_000001.11:g.26794243A>C	gnomAD
COSM907767	p.His70Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794242C>T	NCI-TCGA Cosmic
rs1283891602	p.Phe71Leu	missense variant	-	NC_000001.11:g.26794247C>A	gnomAD
rs762971798	p.Leu72Ser	missense variant	-	NC_000001.11:g.26794249T>C	ExAC,gnomAD
rs766623579	p.Leu72Phe	missense variant	-	NC_000001.11:g.26794250G>C	ExAC,gnomAD
rs760514806	p.Ala75Thr	missense variant	-	NC_000001.11:g.26794257G>A	ExAC,TOPMed,gnomAD
rs1229853041	p.Glu76Asp	missense variant	-	NC_000001.11:g.26794262G>T	gnomAD
rs757152471	p.Tyr81Ter	stop gained	-	NC_000001.11:g.26794277T>G	ExAC,gnomAD
rs1462326347	p.Glu82Lys	missense variant	-	NC_000001.11:g.26794278G>A	gnomAD
rs1186478881	p.His83Arg	missense variant	-	NC_000001.11:g.26794282A>G	gnomAD
rs1389268067	p.Asn84Ser	missense variant	-	NC_000001.11:g.26794285A>G	gnomAD
rs778857841	p.Ala86Ser	missense variant	-	NC_000001.11:g.26794290G>T	ExAC,gnomAD
rs779902346	p.Phe88Ser	missense variant	-	NC_000001.11:g.26794297T>C	ExAC,gnomAD
COSM1341438	p.Phe88Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794296T>G	NCI-TCGA Cosmic
rs201121029	p.Gly90Ser	missense variant	-	NC_000001.11:g.26794302G>A	1000Genomes,ExAC
NCI-TCGA novel	p.Phe91Cys	missense variant	-	NC_000001.11:g.26794306T>G	NCI-TCGA
rs778182206	p.Phe91Leu	missense variant	-	NC_000001.11:g.26794305T>C	ExAC,gnomAD
rs1407113835	p.Pro92Ser	missense variant	-	NC_000001.11:g.26794308C>T	gnomAD
NCI-TCGA novel	p.Pro92Leu	missense variant	-	NC_000001.11:g.26794309C>T	NCI-TCGA
rs748489022	p.Leu93Ser	missense variant	-	NC_000001.11:g.26794312T>C	ExAC,gnomAD
rs751810774	p.Leu93Val	missense variant	-	NC_000001.11:g.26794311T>G	ExAC,gnomAD
rs1364980125	p.Ala94Val	missense variant	-	NC_000001.11:g.26794315C>T	gnomAD
NCI-TCGA novel	p.Ala94Thr	missense variant	-	NC_000001.11:g.26794314G>A	NCI-TCGA
rs1056953594	p.Leu96Pro	missense variant	-	NC_000001.11:g.26794321T>C	TOPMed
rs770225432	p.Gly98Glu	missense variant	-	NC_000001.11:g.26794327G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr99Ile	missense variant	-	NC_000001.11:g.26794330C>T	NCI-TCGA
rs1343420879	p.Arg103Lys	missense variant	-	NC_000001.11:g.26794342G>A	TOPMed,gnomAD
rs946759435	p.Leu105Ser	missense variant	-	NC_000001.11:g.26794348T>C	TOPMed
rs180892038	p.Arg106Gln	missense variant	-	NC_000001.11:g.26794351G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs372631555	p.Arg106Trp	missense variant	-	NC_000001.11:g.26794350C>T	ESP,ExAC,TOPMed,gnomAD
rs774616798	p.Gly107Arg	missense variant	-	NC_000001.11:g.26794353G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly107Trp	missense variant	-	NC_000001.11:g.26794353G>T	NCI-TCGA
rs1195044511	p.Gly107Val	missense variant	-	NC_000001.11:g.26794354G>T	gnomAD
rs1477617208	p.Ser110Thr	missense variant	-	NC_000001.11:g.26794363G>C	gnomAD
rs1172094159	p.Arg112Cys	missense variant	-	NC_000001.11:g.26794368C>T	gnomAD
rs757137280	p.Arg112His	missense variant	-	NC_000001.11:g.26794369G>A	ExAC,TOPMed,gnomAD
rs886044116	p.LeuIle116LeuVal	missense variant	-	NC_000001.11:g.26794382_26794383delinsAG	-
rs765126006	p.Leu116Pro	missense variant	-	NC_000001.11:g.26794381T>C	ExAC,gnomAD
rs142192097	p.Ile117Val	missense variant	-	NC_000001.11:g.26794383A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000313858	p.Ile117Val	missense variant	-	NC_000001.11:g.26794382_26794383delinsAG	ClinVar
RCV000726297	p.Ile117Val	missense variant	-	NC_000001.11:g.26794382_26794383delinsAG	ClinVar
RCV000765107	p.Ile117Val	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794382_26794383delinsAG	ClinVar
RCV000514626	p.Ile117Val	missense variant	-	NC_000001.11:g.26794383A>G	ClinVar
RCV000455981	p.Ile117Val	missense variant	-	NC_000001.11:g.26794383A>G	ClinVar
RCV000286962	p.Ile117Val	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794383A>G	ClinVar
rs1320617918	p.Ser118Leu	missense variant	-	NC_000001.11:g.26794387C>T	TOPMed,gnomAD
rs1436327969	p.Val119Leu	missense variant	-	NC_000001.11:g.26794389G>T	gnomAD
rs1267164610	p.Asn123Ser	missense variant	-	NC_000001.11:g.26794402A>G	gnomAD
COSM907768	p.Leu125Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794407T>G	NCI-TCGA Cosmic
rs780850497	p.Leu125Phe	missense variant	-	NC_000001.11:g.26794409G>T	ExAC,gnomAD
rs369959763	p.Phe127Leu	missense variant	-	NC_000001.11:g.26794413T>C	ESP,ExAC,TOPMed,gnomAD
rs1450982775	p.Phe127Ser	missense variant	-	NC_000001.11:g.26794414T>C	gnomAD
rs756473629	p.Met128Ile	missense variant	-	NC_000001.11:g.26794418G>T	ExAC,gnomAD
rs1199547027	p.Met128Val	missense variant	-	NC_000001.11:g.26794416A>G	gnomAD
rs1411515628	p.Ala131Glu	missense variant	-	NC_000001.11:g.26794426C>A	gnomAD
rs1454467423	p.Ala133Val	missense variant	-	NC_000001.11:g.26794432C>T	gnomAD
rs1160677041	p.Leu134Phe	missense variant	-	NC_000001.11:g.26794434C>T	gnomAD
rs1268654036	p.His135Leu	missense variant	-	NC_000001.11:g.26794438A>T	TOPMed
rs1389087489	p.His135Tyr	missense variant	-	NC_000001.11:g.26794437C>T	gnomAD
NCI-TCGA novel	p.Asp136Tyr	missense variant	-	NC_000001.11:g.26794440G>T	NCI-TCGA
rs371892825	p.His143Arg	missense variant	-	NC_000001.11:g.26794462A>G	ESP,ExAC,TOPMed,gnomAD
rs1299832481	p.Cys144Arg	missense variant	-	NC_000001.11:g.26794464T>C	gnomAD
rs1287083616	p.His146Gln	missense variant	-	NC_000001.11:g.26794472C>A	gnomAD
rs745894226	p.His146Tyr	missense variant	-	NC_000001.11:g.26794470C>T	ExAC,gnomAD
rs185641230	p.Gln147Glu	missense variant	-	NC_000001.11:g.26794473C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs185641230	p.Gln147Ter	stop gained	-	NC_000001.11:g.26794473C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1346310440	p.Gln147Arg	missense variant	-	NC_000001.11:g.26794474A>G	TOPMed
rs1210864247	p.Phe149Ser	missense variant	-	NC_000001.11:g.26794480T>C	TOPMed
rs761560339	p.Tyr150Asn	missense variant	-	NC_000001.11:g.26794482T>A	ExAC,gnomAD
rs1057524351	p.Ala151Gly	missense variant	-	NC_000001.11:g.26794486C>G	-
RCV000437697	p.Ala151Gly	missense variant	-	NC_000001.11:g.26794486C>G	ClinVar
rs773349099	p.Ala152Asp	missense variant	-	NC_000001.11:g.26794489C>A	ExAC,gnomAD
rs766362407	p.Leu154Val	missense variant	-	NC_000001.11:g.26794494C>G	ExAC,gnomAD
RCV000413902	p.Cys156Tyr	missense variant	-	NC_000001.11:g.26794501G>A	ClinVar
rs387907023	p.Cys156Tyr	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26794501G>A	ExAC,TOPMed,gnomAD
rs201332799	p.Ser158Asn	missense variant	-	NC_000001.11:g.26794507G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767117669	p.Asn161Ser	missense variant	-	NC_000001.11:g.26794516A>G	ExAC,TOPMed,gnomAD
RCV000122740	p.Ala165Glu	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794528C>A	ClinVar
rs376328153	p.Ala165Glu	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26794528C>A	ESP,ExAC,TOPMed,gnomAD
rs756498571	p.Gly167Ser	missense variant	-	NC_000001.11:g.26794533G>A	ExAC,TOPMed,gnomAD
rs778110820	p.Tyr168Ter	stop gained	-	NC_000001.11:g.26794538C>G	ExAC
rs1472708398	p.Ser169Leu	missense variant	-	NC_000001.11:g.26794540C>T	gnomAD
rs749593521	p.Glu170Lys	missense variant	-	NC_000001.11:g.26794542G>A	ExAC,TOPMed,gnomAD
rs1368007368	p.Ala171Thr	missense variant	-	NC_000001.11:g.26794545G>A	gnomAD
rs757780191	p.Leu172Phe	missense variant	-	NC_000001.11:g.26794550G>T	ExAC,TOPMed,gnomAD
rs1248828096	p.Ala174Asp	missense variant	-	NC_000001.11:g.26794555C>A	gnomAD
rs745984839	p.Leu175Phe	missense variant	-	NC_000001.11:g.26794557C>T	ExAC,TOPMed,gnomAD
rs1441977431	p.Ser179Ile	missense variant	-	NC_000001.11:g.26794570G>T	TOPMed
NCI-TCGA novel	p.Ala180Val	missense variant	-	NC_000001.11:g.26794573C>T	NCI-TCGA
rs1331861478	p.Ala180Gly	missense variant	-	NC_000001.11:g.26794573C>G	gnomAD
rs772167728	p.Met181Thr	missense variant	-	NC_000001.11:g.26794576T>C	ExAC,gnomAD
NCI-TCGA novel	p.Met181Ile	missense variant	-	NC_000001.11:g.26794577G>C	NCI-TCGA
rs1339455825	p.Met181Val	missense variant	-	NC_000001.11:g.26794575A>G	gnomAD
rs775630257	p.Gly182Glu	missense variant	-	NC_000001.11:g.26794579G>A	ExAC,gnomAD
rs1306060571	p.Glu185Gln	missense variant	-	NC_000001.11:g.26794587G>C	TOPMed
rs1340002703	p.Arg186Thr	missense variant	-	NC_000001.11:g.26794591G>C	gnomAD
rs368069947	p.Arg188Gln	missense variant	-	NC_000001.11:g.26794597G>A	ESP,ExAC,TOPMed,gnomAD
rs1369324588	p.Arg188Ter	stop gained	-	NC_000001.11:g.26794596C>T	TOPMed
rs968410236	p.Val189Ala	missense variant	-	NC_000001.11:g.26794600T>C	TOPMed
rs1251786702	p.Val189Ile	missense variant	-	NC_000001.11:g.26794599G>A	gnomAD
rs202211728	p.Trp190Ter	stop gained	-	NC_000001.11:g.26794603G>A	1000Genomes,ExAC,gnomAD
rs773156094	p.Thr191Ser	missense variant	-	NC_000001.11:g.26794606C>G	ExAC,TOPMed,gnomAD
rs1460987621	p.Val193Ile	missense variant	-	NC_000001.11:g.26794611G>A	gnomAD
rs979756603	p.Leu194Phe	missense variant	-	NC_000001.11:g.26794614C>T	TOPMed,gnomAD
rs1387412495	p.Ala199Ser	missense variant	-	NC_000001.11:g.26794629G>T	gnomAD
rs1453594216	p.Gly201Glu	missense variant	-	NC_000001.11:g.26794636G>A	TOPMed
NCI-TCGA novel	p.Val202Ala	missense variant	-	NC_000001.11:g.26794639T>C	NCI-TCGA
rs149690056	p.Arg203Cys	missense variant	-	NC_000001.11:g.26794641C>T	ESP,ExAC,TOPMed,gnomAD
rs1168553787	p.Arg203Leu	missense variant	-	NC_000001.11:g.26794642G>T	TOPMed,gnomAD
rs1168553787	p.Arg203His	missense variant	-	NC_000001.11:g.26794642G>A	TOPMed,gnomAD
rs34512715	p.Asn205Lys	missense variant	-	NC_000001.11:g.26794649C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766452597	p.Asn205Ser	missense variant	-	NC_000001.11:g.26794648A>G	ExAC,TOPMed,gnomAD
RCV000482776	p.Asn205Ser	missense variant	-	NC_000001.11:g.26794648A>G	ClinVar
RCV000591654	p.Asn205Lys	missense variant	-	NC_000001.11:g.26794649C>G	ClinVar
rs759021332	p.Gly206Arg	missense variant	-	NC_000001.11:g.26794650G>A	ExAC,gnomAD
rs760382543	p.Val208Ile	missense variant	-	NC_000001.11:g.26794656G>A	ExAC,gnomAD
rs1434086651	p.Ser209Thr	missense variant	-	NC_000001.11:g.26794660G>C	TOPMed,gnomAD
rs1296279337	p.Gly211Val	missense variant	-	NC_000001.11:g.26794666G>T	gnomAD
rs146852030	p.Leu213Pro	missense variant	-	NC_000001.11:g.26794672T>C	ESP,ExAC,TOPMed,gnomAD
rs763683136	p.Leu213Val	missense variant	-	NC_000001.11:g.26794671C>G	ExAC,gnomAD
RCV000442084	p.Leu213Pro	missense variant	-	NC_000001.11:g.26794672T>C	ClinVar
rs1440653895	p.Met214Leu	missense variant	-	NC_000001.11:g.26794674A>C	TOPMed
rs1308287252	p.His215Tyr	missense variant	-	NC_000001.11:g.26794677C>T	TOPMed
rs1323114477	p.Ser216Tyr	missense variant	-	NC_000001.11:g.26794681C>A	gnomAD
rs779441883	p.Gln217Glu	missense variant	-	NC_000001.11:g.26794683C>G	ExAC,gnomAD
rs779441883	p.Gln217Ter	stop gained	-	NC_000001.11:g.26794683C>T	ExAC,gnomAD
rs201380762	p.Gln219Pro	missense variant	-	NC_000001.11:g.26794690A>C	1000Genomes
rs369077530	p.Gly220Val	missense variant	-	NC_000001.11:g.26794693G>T	ESP,ExAC,TOPMed,gnomAD
rs1237603284	p.Gly220Cys	missense variant	-	NC_000001.11:g.26794692G>T	TOPMed
rs780186295	p.Phe221Cys	missense variant	-	NC_000001.11:g.26794696T>G	ExAC,gnomAD
COSM3487593	p.Ser223Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794702C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser223LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.26794694_26794695insT	NCI-TCGA
rs909295293	p.Ser224Cys	missense variant	-	NC_000001.11:g.26794705C>G	TOPMed
NCI-TCGA novel	p.Ser224Tyr	missense variant	-	NC_000001.11:g.26794705C>A	NCI-TCGA
rs747001986	p.Leu225Val	missense variant	-	NC_000001.11:g.26794707C>G	ExAC,TOPMed,gnomAD
rs942066811	p.Thr226Met	missense variant	-	NC_000001.11:g.26794711C>T	TOPMed,gnomAD
rs781524183	p.Met227Arg	missense variant	-	NC_000001.11:g.26794714T>G	ExAC,TOPMed,gnomAD
rs781524183	p.Met227Thr	missense variant	-	NC_000001.11:g.26794714T>C	ExAC,TOPMed,gnomAD
rs749137316	p.Leu228Pro	missense variant	-	NC_000001.11:g.26794717T>C	ExAC,gnomAD
rs1411244783	p.Pro230His	missense variant	-	NC_000001.11:g.26794723C>A	TOPMed
NCI-TCGA novel	p.Pro230Ser	missense variant	-	NC_000001.11:g.26794722C>T	NCI-TCGA
rs1456518778	p.Gln233His	missense variant	-	NC_000001.11:g.26794733G>C	gnomAD
rs1289163166	p.Leu234Pro	missense variant	-	NC_000001.11:g.26794735T>C	gnomAD
NCI-TCGA novel	p.Phe235LeuPheSerTerUnk	frameshift	-	NC_000001.11:g.26794737T>-	NCI-TCGA
rs997788862	p.Leu237Val	missense variant	-	NC_000001.11:g.26794743C>G	TOPMed
rs1364025636	p.Ala239Val	missense variant	-	NC_000001.11:g.26794750C>T	gnomAD
rs759516134	p.Ser240Ala	missense variant	-	NC_000001.11:g.26794752T>G	ExAC,TOPMed,gnomAD
rs1415996264	p.Leu241Gln	missense variant	-	NC_000001.11:g.26794756T>A	TOPMed
rs771841963	p.Leu243Arg	missense variant	-	NC_000001.11:g.26794762T>G	ExAC,gnomAD
RCV000768045	p.Leu243Pro	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794762T>C	ClinVar
rs148083457	p.Ser244Leu	missense variant	-	NC_000001.11:g.26794765C>T	ESP,ExAC,TOPMed,gnomAD
rs753463896	p.Val245Leu	missense variant	-	NC_000001.11:g.26794767G>C	ExAC,gnomAD
rs765579778	p.Thr247Ala	missense variant	-	NC_000001.11:g.26794773A>G	ExAC,gnomAD
rs750687040	p.Leu248Phe	missense variant	-	NC_000001.11:g.26794776C>T	ExAC,TOPMed,gnomAD
rs780377617	p.Leu250Ile	missense variant	-	NC_000001.11:g.26794782C>A	ExAC,TOPMed,gnomAD
rs1047982800	p.Ala253Thr	missense variant	-	NC_000001.11:g.26794791G>A	TOPMed,gnomAD
COSM3487594	p.Ala253Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794792C>T	NCI-TCGA Cosmic
rs755079722	p.Leu254Ile	missense variant	-	NC_000001.11:g.26794794C>A	ExAC,gnomAD
RCV000001349	p.Gln256Lys	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794800C>A	ClinVar
rs267606952	p.Gln256Lys	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26794800C>A	-
rs267606952	p.Gln256Lys	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794800C>A	UniProt,dbSNP
VAR_064190	p.Gln256Lys	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794800C>A	UniProt
rs1228126006	p.Tyr257His	missense variant	-	NC_000001.11:g.26794803T>C	gnomAD
NCI-TCGA novel	p.Tyr260Cys	missense variant	-	NC_000001.11:g.26794813A>G	NCI-TCGA
RCV000733944	p.Thr261Ter	frameshift	-	NC_000001.11:g.26794815dup	ClinVar
rs769687257	p.Gln262His	missense variant	-	NC_000001.11:g.26794820A>T	ExAC,TOPMed,gnomAD
rs374660153	p.Gln262Arg	missense variant	-	NC_000001.11:g.26794819A>G	ESP,ExAC,TOPMed,gnomAD
rs769687257	p.Gln262His	missense variant	-	NC_000001.11:g.26794820A>C	ExAC,TOPMed,gnomAD
COSM907770	p.Phe263Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794823C>A	NCI-TCGA Cosmic
rs377225655	p.Leu265Pro	missense variant	-	NC_000001.11:g.26794828T>C	ESP,ExAC,TOPMed,gnomAD
rs1405637226	p.Ser268Leu	missense variant	-	NC_000001.11:g.26794837C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala269Thr	missense variant	-	NC_000001.11:g.26794839G>A	NCI-TCGA
rs149379900	p.Arg270Pro	missense variant	-	NC_000001.11:g.26794843G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374158705	p.Arg270Cys	missense variant	-	NC_000001.11:g.26794842C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149379900	p.Arg270His	missense variant	-	NC_000001.11:g.26794843G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000600573	p.Arg270His	missense variant	-	NC_000001.11:g.26794843G>A	ClinVar
RCV000373188	p.Arg270Cys	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794842C>T	ClinVar
rs887914560	p.Pro275Thr	missense variant	-	NC_000001.11:g.26794857C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Val277Ile	missense variant	-	NC_000001.11:g.26794863G>A	NCI-TCGA
rs764811792	p.Val281Ile	missense variant	-	NC_000001.11:g.26794875G>A	ExAC,gnomAD
rs773648303	p.Asp282Gly	missense variant	-	NC_000001.11:g.26794879A>G	ExAC,gnomAD
COSM3487595	p.Asp282Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794878G>A	NCI-TCGA Cosmic
rs1480010905	p.Lys283Arg	missense variant	-	NC_000001.11:g.26794882A>G	gnomAD
rs557206710	p.Gly284Asp	missense variant	-	NC_000001.11:g.26794885G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000278822	p.Gly284Asp	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794885G>A	ClinVar
rs1421893600	p.Tyr285His	missense variant	-	NC_000001.11:g.26794887T>C	gnomAD
RCV000594738	p.Tyr285Cys	missense variant	-	NC_000001.11:g.26794888A>G	ClinVar
rs755167830	p.Tyr285Cys	missense variant	-	NC_000001.11:g.26794888A>G	ExAC,gnomAD
rs539783121	p.Arg286Trp	missense variant	-	NC_000001.11:g.26794890C>T	ExAC,TOPMed,gnomAD
rs1471492464	p.Arg286Gln	missense variant	-	NC_000001.11:g.26794891G>A	TOPMed,gnomAD
rs1426424430	p.Ile287Val	missense variant	-	NC_000001.11:g.26794893A>G	gnomAD
rs1376564813	p.Ala288Val	missense variant	-	NC_000001.11:g.26794897C>T	TOPMed
NCI-TCGA novel	p.Gly290Arg	missense variant	-	NC_000001.11:g.26794902G>A	NCI-TCGA
rs147396061	p.Asn291Ser	missense variant	-	NC_000001.11:g.26794906A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1352879448	p.Asn291Asp	missense variant	-	NC_000001.11:g.26794905A>G	gnomAD
RCV000422361	p.Asn291Ser	missense variant	-	NC_000001.11:g.26794906A>G	ClinVar
rs1310524839	p.Glu292Lys	missense variant	-	NC_000001.11:g.26794908G>A	TOPMed
rs200014772	p.Pro293Leu	missense variant	-	NC_000001.11:g.26794912C>T	ExAC,gnomAD
rs1057518270	p.Phe297Leu	missense variant	-	NC_000001.11:g.26794925C>A	-
RCV000413924	p.Phe297Leu	missense variant	-	NC_000001.11:g.26794925C>A	ClinVar
rs1226968906	p.Asp299Asn	missense variant	-	NC_000001.11:g.26794929G>A	gnomAD
rs771852496	p.Asp299Val	missense variant	-	NC_000001.11:g.26794930A>T	gnomAD
rs1360820696	p.Leu302Val	missense variant	-	NC_000001.11:g.26794938C>G	gnomAD
rs780094407	p.Leu302Pro	missense variant	-	NC_000001.11:g.26794939T>C	ExAC,gnomAD
rs768513225	p.Tyr304His	missense variant	-	NC_000001.11:g.26794944T>C	ExAC,gnomAD
rs370558069	p.Ile307Thr	missense variant	-	NC_000001.11:g.26794954T>C	ESP,ExAC,TOPMed,gnomAD
rs370558069	p.Ile307Asn	missense variant	-	NC_000001.11:g.26794954T>A	ESP,ExAC,TOPMed,gnomAD
rs1226460671	p.Ile307Val	missense variant	-	NC_000001.11:g.26794953A>G	TOPMed
NCI-TCGA novel	p.Ile307Met	missense variant	-	NC_000001.11:g.26794955C>G	NCI-TCGA
rs1234266577	p.Gln308Arg	missense variant	-	NC_000001.11:g.26794957A>G	TOPMed,gnomAD
rs1482975627	p.Asp309Tyr	missense variant	-	NC_000001.11:g.26794959G>T	TOPMed
rs769517639	p.Tyr311Cys	missense variant	-	NC_000001.11:g.26794966A>G	ExAC,gnomAD
rs1162224599	p.Trp312Cys	missense variant	-	NC_000001.11:g.26794970G>T	TOPMed,gnomAD
rs772709756	p.Trp312Arg	missense variant	-	NC_000001.11:g.26794968T>C	ExAC,gnomAD
rs763425078	p.Val314Ala	missense variant	-	NC_000001.11:g.26794975T>C	ExAC,TOPMed,gnomAD
rs199833588	p.Gly315Asp	missense variant	-	NC_000001.11:g.26794978G>A	1000Genomes,ExAC,gnomAD
rs148610857	p.Tyr320Cys	missense variant	-	NC_000001.11:g.26794993A>G	ESP,TOPMed,gnomAD
rs774991514	p.Lys323Arg	missense variant	-	NC_000001.11:g.26795002A>G	ExAC,TOPMed,gnomAD
rs774991514	p.Lys323Thr	missense variant	-	NC_000001.11:g.26795002A>C	ExAC,TOPMed,gnomAD
rs373315999	p.Gln324Ter	stop gained	-	NC_000001.11:g.26795004C>T	ESP,ExAC,TOPMed,gnomAD
COSM3789829	p.Gln324His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795006G>C	NCI-TCGA Cosmic
rs373315999	p.Gln324Lys	missense variant	-	NC_000001.11:g.26795004C>A	ESP,ExAC,TOPMed,gnomAD
rs201084787	p.Val325Met	missense variant	-	NC_000001.11:g.26795007G>A	1000Genomes,ExAC,gnomAD
rs142884955	p.Asn327Ser	missense variant	-	NC_000001.11:g.26795014A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs997028891	p.Leu329Gln	missense variant	-	NC_000001.11:g.26795020T>A	TOPMed,gnomAD
rs1359389792	p.Pro333Ser	missense variant	-	NC_000001.11:g.26795031C>T	TOPMed
rs753991047	p.Ala335Thr	missense variant	-	NC_000001.11:g.26795037G>A	ExAC,gnomAD
rs1057515437	p.Ile336Met	missense variant	-	NC_000001.11:g.26795042A>G	-
rs758278375	p.Ile336Val	missense variant	-	NC_000001.11:g.26795040A>G	ExAC,TOPMed,gnomAD
RCV000338501	p.Ile336Met	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26795042A>G	ClinVar
COSM907772	p.Leu337Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795043C>A	NCI-TCGA Cosmic
rs1214680827	p.Ala339Ser	missense variant	-	NC_000001.11:g.26795049G>T	gnomAD
rs139073416	p.Ala341Val	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795056C>T	ESP,ExAC,TOPMed,gnomAD
rs139073416	p.Ala341Glu	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>A	UniProt,dbSNP
VAR_064191	p.Ala341Glu	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>A	UniProt
rs139073416	p.Ala341Glu	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795056C>A	ESP,ExAC,TOPMed,gnomAD
RCV000001350	p.Ala341Val	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>T	ClinVar
rs139073416	p.Ala341Val	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>T	UniProt,dbSNP
VAR_064192	p.Ala341Val	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>T	UniProt
RCV000613584	p.Ala341Glu	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26795056C>A	ClinVar
rs1202688840	p.Thr344Arg	missense variant	-	NC_000001.11:g.26795065C>G	gnomAD
rs746747719	p.Thr344Ser	missense variant	-	NC_000001.11:g.26795064A>T	ExAC,gnomAD
rs1289360702	p.Tyr345Ter	stop gained	-	NC_000001.11:g.26795068dup	TOPMed,gnomAD
rs1052062433	p.Tyr345His	missense variant	-	NC_000001.11:g.26795067T>C	TOPMed
rs768120577	p.Val346Met	missense variant	-	NC_000001.11:g.26795070G>A	ExAC,gnomAD
rs769166258	p.Thr347Ala	missense variant	-	NC_000001.11:g.26795073A>G	ExAC,gnomAD
rs144053014	p.Thr348Ile	missense variant	-	NC_000001.11:g.26795077C>T	ESP
rs796445275	p.His349Arg	missense variant	-	NC_000001.11:g.26795080A>G	gnomAD
rs772977347	p.His349Tyr	missense variant	-	NC_000001.11:g.26795079C>T	ExAC,gnomAD
NCI-TCGA novel	p.Cys353Phe	missense variant	-	NC_000001.11:g.26795092G>T	NCI-TCGA
rs1421801921	p.Leu354Val	missense variant	-	NC_000001.11:g.26795094C>G	TOPMed,gnomAD
rs988022455	p.Leu356Arg	missense variant	-	NC_000001.11:g.26795101T>G	TOPMed,gnomAD
rs988022455	p.Leu356Pro	missense variant	-	NC_000001.11:g.26795101T>C	TOPMed,gnomAD
rs748890495	p.Ser361Asn	missense variant	-	NC_000001.11:g.26795116G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser361Arg	missense variant	-	NC_000001.11:g.26795117C>G	NCI-TCGA
rs376257064	p.Lys362Gln	missense variant	-	NC_000001.11:g.26795118A>C	ESP,ExAC,TOPMed,gnomAD
RCV000493284	p.Lys362Gln	missense variant	-	NC_000001.11:g.26795118A>C	ClinVar
rs376257064	p.Lys362Glu	missense variant	-	NC_000001.11:g.26795118A>G	ESP,ExAC,TOPMed,gnomAD
COSM4031037	p.Asn363Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795122A>C	NCI-TCGA Cosmic
rs904668661	p.Asn363Lys	missense variant	-	NC_000001.11:g.26795123C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys365Arg	missense variant	-	NC_000001.11:g.26795128A>G	NCI-TCGA
rs1316594177	p.Lys365Glu	missense variant	-	NC_000001.11:g.26795127A>G	gnomAD
rs774871967	p.Thr366Asn	missense variant	-	NC_000001.11:g.26795131C>A	ExAC,gnomAD
rs774871967	p.Thr366Ile	missense variant	-	NC_000001.11:g.26795131C>T	ExAC,gnomAD
rs772740992	p.Leu367Ile	missense variant	-	NC_000001.11:g.26795133C>A	ExAC,gnomAD
rs1343172835	p.Leu367Pro	missense variant	-	NC_000001.11:g.26795134T>C	gnomAD
COSM3487596	p.Pro370Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795143C>T	NCI-TCGA Cosmic
rs776115008	p.Pro370Ser	missense variant	-	NC_000001.11:g.26795142C>T	ExAC,gnomAD
rs764074675	p.Asp371Asn	missense variant	-	NC_000001.11:g.26795145G>A	ExAC,TOPMed,gnomAD
rs764074675	p.Asp371His	missense variant	-	NC_000001.11:g.26795145G>C	ExAC,TOPMed,gnomAD
COSM3487597	p.Phe374Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795156C>A	NCI-TCGA Cosmic
rs753887088	p.Ser376Gly	missense variant	-	NC_000001.11:g.26795160A>G	ExAC,gnomAD
rs1420244341	p.Pro377Leu	missense variant	-	NC_000001.11:g.26795164C>T	TOPMed
rs1034061662	p.Gln378Arg	missense variant	-	NC_000001.11:g.26795167A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Val379Leu	missense variant	-	NC_000001.11:g.26795169G>T	NCI-TCGA
rs1179780840	p.Val381Leu	missense variant	-	NC_000001.11:g.26795175G>C	gnomAD
rs1283234892	p.Tyr382Cys	missense variant	-	NC_000001.11:g.26795179A>G	gnomAD
RCV000521023	p.Val383Met	missense variant	-	NC_000001.11:g.26795181G>A	ClinVar
rs765449173	p.Val383Met	missense variant	-	NC_000001.11:g.26795181G>A	ExAC,TOPMed,gnomAD
rs267606951	p.His385Pro	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795188A>C	UniProt,dbSNP
VAR_064193	p.His385Pro	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795188A>C	UniProt
rs267606951	p.His385Pro	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795188A>C	ExAC,gnomAD
rs751387512	p.His385Tyr	missense variant	-	NC_000001.11:g.26795187C>T	ExAC,gnomAD
rs200817594	p.His385Gln	missense variant	-	NC_000001.11:g.26795189C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000001348	p.His385Pro	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795188A>C	ClinVar
rs1430247948	p.Ala386Thr	missense variant	-	NC_000001.11:g.26795190G>A	gnomAD
rs1396350236	p.Ala387Val	missense variant	-	NC_000001.11:g.26795194C>T	TOPMed
COSM1341441	p.Val388Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795197T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu390Pro	missense variant	-	NC_000001.11:g.26795203T>C	NCI-TCGA
rs374617474	p.Leu391Pro	missense variant	-	NC_000001.11:g.26795206T>C	ESP,ExAC,gnomAD
COSM1341442	p.Phe392Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795209T>G	NCI-TCGA Cosmic
rs748777160	p.Phe392Leu	missense variant	-	NC_000001.11:g.26795210T>G	ExAC,gnomAD
rs1014330215	p.Leu395Val	missense variant	-	NC_000001.11:g.26795217C>G	TOPMed
rs778672695	p.Met397Val	missense variant	-	NC_000001.11:g.26795223A>G	ExAC,TOPMed,gnomAD
rs767296371	p.Val401Ile	missense variant	-	NC_000001.11:g.26797563G>A	ExAC,gnomAD
rs907205232	p.Arg404Thr	missense variant	-	NC_000001.11:g.26797573G>C	TOPMed
rs1057515509	p.Phe405Leu	missense variant	-	NC_000001.11:g.26797575T>C	TOPMed,gnomAD
COSM907773	p.Phe405Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26797576T>G	NCI-TCGA Cosmic
rs1057515509	p.Phe405Ile	missense variant	-	NC_000001.11:g.26797575T>A	TOPMed,gnomAD
RCV000391703	p.Phe405Ile	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26797575T>A	ClinVar
rs1330977790	p.Gly407Ala	missense variant	-	NC_000001.11:g.26797582G>C	TOPMed
rs752424976	p.Gly407Ser	missense variant	-	NC_000001.11:g.26797581G>A	ExAC,gnomAD
RCV000524036	p.Gly407Ala	missense variant	-	NC_000001.11:g.26797582G>C	ClinVar
rs777720578	p.Thr410Ser	missense variant	-	NC_000001.11:g.26797590A>T	ExAC,TOPMed,gnomAD
COSM4031038	p.Ile412Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26797596A>G	NCI-TCGA Cosmic
rs1452161183	p.Ile412Thr	missense variant	-	NC_000001.11:g.26797597T>C	TOPMed
rs753323479	p.Met413Leu	missense variant	-	NC_000001.11:g.26797599A>T	ExAC,gnomAD
rs1335917148	p.Met413Ile	missense variant	-	NC_000001.11:g.26797601G>A	gnomAD
rs1009015375	p.Trp415Cys	missense variant	-	NC_000001.11:g.26797607G>T	gnomAD
rs1009015375	p.Trp415Ter	stop gained	-	NC_000001.11:g.26797607G>A	gnomAD
rs756764882	p.Pro417Thr	missense variant	-	NC_000001.11:g.26797611C>A	ExAC,gnomAD
rs1271144650	p.Ala418Asp	missense variant	-	NC_000001.11:g.26797615C>A	TOPMed
rs778762487	p.His419Asp	missense variant	-	NC_000001.11:g.26797617C>G	ExAC,TOPMed,gnomAD
rs778762487	p.His419Asn	missense variant	-	NC_000001.11:g.26797617C>A	ExAC,TOPMed,gnomAD
rs745507329	p.Asp423Asn	missense variant	-	NC_000001.11:g.26797629G>A	ExAC,TOPMed,gnomAD
rs146969255	p.Pro426Leu	missense variant	-	NC_000001.11:g.26797639C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000294158	p.Pro426Leu	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26797639C>T	ClinVar
RCV000724080	p.Pro426Leu	missense variant	-	NC_000001.11:g.26797639C>T	ClinVar
RCV000178312	p.Pro426Leu	missense variant	-	NC_000001.11:g.26797639C>T	ClinVar
rs747348693	p.Arg429Lys	missense variant	-	NC_000001.11:g.26797648G>A	ExAC,gnomAD
rs769074339	p.Ser430Pro	missense variant	-	NC_000001.11:g.26797650T>C	ExAC,TOPMed,gnomAD
rs758118607	p.Lys432Thr	missense variant	-	NC_000001.11:g.26797657A>C	ExAC,TOPMed,gnomAD
COSM1473821	p.Thr433Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26797659A>T	NCI-TCGA Cosmic
rs143081680	p.Val434Met	missense variant	-	NC_000001.11:g.26797662G>A	ESP,ExAC,TOPMed
rs773491605	p.Pro435Ser	missense variant	-	NC_000001.11:g.26797665C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys437Glu	missense variant	-	NC_000001.11:g.26797671A>G	NCI-TCGA
rs763168434	p.Lys437Arg	missense variant	-	NC_000001.11:g.26797672A>G	ExAC,gnomAD
RCV000494191	p.Pro438Leu	missense variant	-	NC_000001.11:g.26797675C>T	ClinVar
rs766533625	p.Pro438Leu	missense variant	-	NC_000001.11:g.26797675C>T	ExAC,TOPMed,gnomAD
rs1166734973	p.Leu439Val	missense variant	-	NC_000001.11:g.26797677C>G	gnomAD
rs1013076880	p.Ala440Thr	missense variant	-	NC_000001.11:g.26797680G>A	TOPMed,gnomAD
rs201804133	p.Asp442Tyr	missense variant	-	NC_000001.11:g.26797686G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs760482425	p.Ser443Phe	missense variant	-	NC_000001.11:g.26797690C>T	ExAC,gnomAD
rs763982792	p.Pro444Leu	missense variant	-	NC_000001.11:g.26797693C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro444GlnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.26797690_26797709CCCCACCAGGACAAAAGGTC>-	NCI-TCGA
rs370891890	p.Pro445Ser	missense variant	-	NC_000001.11:g.26797695C>T	ESP,ExAC,TOPMed,gnomAD
rs966434689	p.Gln447Glu	missense variant	-	NC_000001.11:g.26797701C>G	TOPMed
rs1324547284	p.Lys448Arg	missense variant	-	NC_000001.11:g.26797705A>G	gnomAD
rs531599538	p.Asn452Ser	missense variant	-	NC_000001.11:g.26797717A>G	TOPMed
rs977742727	p.Asn452His	missense variant	-	NC_000001.11:g.26797716A>C	TOPMed,gnomAD
rs756890344	p.Ile454Leu	missense variant	-	NC_000001.11:g.26797722A>C	ExAC,gnomAD
rs1180105021	p.Ile454Met	missense variant	-	NC_000001.11:g.26797724C>G	TOPMed
rs764840970	p.Ile454Asn	missense variant	-	NC_000001.11:g.26797723T>A	ExAC,gnomAD
rs749892627	p.Met455Thr	missense variant	-	NC_000001.11:g.26797726T>C	ExAC,TOPMed,gnomAD
rs957961816	p.Gly456Arg	missense variant	-	NC_000001.11:g.26797728G>A	TOPMed
rs143676075	p.Leu457Phe	missense variant	-	NC_000001.11:g.26797731C>T	ESP,ExAC,TOPMed,gnomAD
RCV000765108	p.Leu457Phe	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26797731C>T	ClinVar
RCV000490215	p.Leu457Phe	missense variant	-	NC_000001.11:g.26797731C>T	ClinVar
rs150563150	p.Trp461Arg	missense variant	-	NC_000001.11:g.26797743T>C	ESP,gnomAD
rs747373591	p.Trp461Ter	stop gained	-	NC_000001.11:g.26797744G>A	ExAC,gnomAD
rs755347942	p.Thr463Ile	missense variant	-	NC_000001.11:g.26797750C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys464TyrPheSerTerUnk	frameshift	-	NC_000001.11:g.26797753_26797768GTTCTCCAGTCACACG>-	NCI-TCGA
COSM907774	p.Ser465Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26797756C>A	NCI-TCGA Cosmic
rs1191872813	p.Ser465Phe	missense variant	-	NC_000001.11:g.26797756C>T	gnomAD
rs748685118	p.Val467Gly	missense variant	-	NC_000001.11:g.26797762T>G	ExAC,gnomAD
rs1463066620	p.Thr468Arg	missense variant	-	NC_000001.11:g.26797765C>G	TOPMed,gnomAD
rs770220740	p.Arg469Gly	missense variant	-	NC_000001.11:g.26797767C>G	ExAC,TOPMed,gnomAD
rs1045854988	p.Arg469Gln	missense variant	-	NC_000001.11:g.26797768G>A	TOPMed
rs770220740	p.Arg469Ter	stop gained	-	NC_000001.11:g.26797767C>T	ExAC,TOPMed,gnomAD
rs1327869506	p.Tyr470Cys	missense variant	-	NC_000001.11:g.26797771A>G	TOPMed
rs749320195	p.Ile471Val	missense variant	-	NC_000001.11:g.26797773A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu472Ile	missense variant	-	NC_000001.11:g.26797776C>A	NCI-TCGA
RCV000479838	p.Leu472Pro	missense variant	-	NC_000001.11:g.26797777T>C	ClinVar
rs774605091	p.Leu472Pro	missense variant	-	NC_000001.11:g.26797777T>C	ExAC,TOPMed
rs771177205	p.Leu472Val	missense variant	-	NC_000001.11:g.26797776C>G	ExAC,gnomAD
rs549740566	p.Phe475Leu	missense variant	-	NC_000001.11:g.26797787C>G	gnomAD
rs940048236	p.Thr477Ile	missense variant	-	NC_000001.11:g.26797792C>T	TOPMed
rs1358703459	p.Tyr478Cys	missense variant	-	NC_000001.11:g.26797795A>G	TOPMed
rs1296165102	p.Trp479Arg	missense variant	-	NC_000001.11:g.26797797T>C	TOPMed,gnomAD
rs1327167208	p.Trp479Ter	stop gained	-	NC_000001.11:g.26797799G>A	gnomAD
rs761689645	p.Gly482Arg	missense variant	-	NC_000001.11:g.26797806G>A	ExAC,TOPMed,gnomAD
rs1204745319	p.Gly482Glu	missense variant	-	NC_000001.11:g.26797807G>A	TOPMed,gnomAD
rs1204745319	p.Gly482Ala	missense variant	-	NC_000001.11:g.26797807G>C	TOPMed,gnomAD
rs765175813	p.Leu483Val	missense variant	-	NC_000001.11:g.26797809C>G	ExAC,gnomAD
rs149327962	p.Leu483Arg	missense variant	-	NC_000001.11:g.26797810T>G	ESP,ExAC,TOPMed,gnomAD
rs1196564368	p.His486Arg	missense variant	-	NC_000001.11:g.26797819A>G	gnomAD
rs973687848	p.Asn488Lys	missense variant	-	NC_000001.11:g.26797826C>A	TOPMed,gnomAD
rs146467198	p.Phe489Leu	missense variant	-	NC_000001.11:g.26797829C>G	ESP,ExAC,TOPMed,gnomAD
COSM1320236	p.Leu490Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26797830C>G	NCI-TCGA Cosmic
rs1057515548	p.Thr493Ala	missense variant	-	NC_000001.11:g.26797839A>G	TOPMed
RCV000403426	p.Thr493Ala	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26797839A>G	ClinVar
rs1177767124	p.Thr493Ile	missense variant	-	NC_000001.11:g.26797840C>T	gnomAD
rs748710132	p.Ter494Ser	stop lost	-	NC_000001.11:g.26797843G>C	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0019569	Hirschsprung Disease	disease	BEFREE
C0025362	Mental Retardation	disease	BEFREE
C0036572	Seizures	phenotype	BEFREE
C0036857	Severe mental retardation (I.Q. 20-34)	disease	HPO
C0200633	Neutrophil count (procedure)	phenotype	GWASCAT
C0200641	Blood basophil count (lab test)	phenotype	GWASCAT
C0263523	Micronychia (disorder)	phenotype	HPO
C0265529	Plagiocephaly	disease	HPO
C0266292	Congenital anomaly of the kidney	group	BEFREE
C0282577	Congenital Disorders of Glycosylation	group	GENOMICS_ENGLAND
C0302501	Mandibular hyperplasia	phenotype	HPO
C0399526	Class III malocclusion	disease	HPO
C0423109	Upward slant of palpebral fissure	phenotype	HPO
C0423221	Globe of eye large	phenotype	HPO
C0426886	Tapering fingers (finding)	phenotype	HPO
C0431478	Posteriorly rotated ear	disease	HPO
C0746940	Nonverbal	phenotype	HPO
C0936215	Vitamin B 6 Deficiency	disease	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1302790	Congenital malformation syndrome	group	BEFREE
C1450010	Plagiocephaly, Nonsynostotic	phenotype	HPO
C1839767	Tented upper lip vermilion	phenotype	HPO
C1849340	Long palpebral fissure	phenotype	HPO
C1850072	Tented upper lip	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1853383	Tented mouth	phenotype	HPO
C1854882	Absent speech	phenotype	HPO
C1855852	Large eyes	phenotype	HPO
C1855923	Hyperphosphatasia with Mental Retardation	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1858085	Malar flattening	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1861324	Short philtrum	phenotype	HPO
C1865017	Thin upper lip vermilion	phenotype	HPO
C1868571	Highly arched eyebrow	phenotype	HPO
C2227134	mandibular excess (physical finding)	phenotype	HPO
C2673410	Small midface	phenotype	HPO
C3495676	Anorectal Malformations	group	BEFREE
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND
C4020849	Bowed and upward slanting eyebrows	phenotype	HPO
C4072830	Asymmetry of the posterior cranium	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280597	Rhomboid shaped head	phenotype	HPO
C4280598	Flattening of head	phenotype	HPO
C4280603	Increased size of palpebral fissures	phenotype	HPO
C4280644	Increased size of the mandible	phenotype	HPO
C4280645	Hypertrophy of lower jaw	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280807	Flattening of cranial vault	phenotype	HPO
C4476527	Flat head	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000030	mannosyltransferase activity	IGI
GO:0000030	mannosyltransferase activity	IMP
GO:0000030	mannosyltransferase activity	IBA
GO:0004376	glycolipid mannosyltransferase activity	TAS
GO:0004584	dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006506	GPI anchor biosynthetic process	IGI
GO:0006506	GPI anchor biosynthetic process	IMP
GO:0006506	GPI anchor biosynthetic process	IBA
GO:0016254	preassembly of GPI anchor in ER membrane	TAS
GO:0097502	mannosylation	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005789	endoplasmic reticulum membrane	IDA
GO:0005789	endoplasmic reticulum membrane	IBA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0016021	integral component of membrane	NAS
GO:0031501	mannosyltransferase complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162710	Synthesis of glycosylphosphatidylinositol (GPI)	TAS
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-597592	Post-translational protein modification	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of PIGV mRNA	21346803
C035207	4-amino-2,6-dinitrotoluene	4-amino-2,6-dinitrotoluene affects the expression of PIGV mRNA	21346803
D001151	Arsenic	Arsenic affects the methylation of PIGV gene	25304211
C006780	bisphenol A	bisphenol A affects the expression of PIGV mRNA	25181051
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of PIGV mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of PIGV mRNA	27392435; 27594783;
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PIGV mRNA	19376846
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of PIGV mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of PIGV mRNA	20106945; 25562108;
D004041	Dietary Fats	Dietary Fats results in decreased expression of PIGV mRNA	28031460
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of PIGV mRNA	22079256
D000431	Ethanol	Ethanol results in increased expression of PIGV mRNA	30319688
C039281	furan	furan results in increased methylation of PIGV gene	22079235
D017261	Glycosylphosphatidylinositols	PIGV protein results in increased chemical synthesis of Glycosylphosphatidylinositols	15623507
C000593030	GSK-J4	GSK-J4 results in decreased expression of PIGV mRNA	29301935
C016517	indole-3-carbinol	indole-3-carbinol affects the expression of PIGV mRNA	21396975
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of PIGV mRNA	25613284
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of PIGV mRNA	27392435
C544151	jinfukang	jinfukang results in increased expression of PIGV mRNA	27392435
D008358	Mannose	PIGV protein results in increased metabolism of Mannose	15623507
D008727	Methotrexate	Methotrexate results in increased expression of PIGV mRNA	24449571
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PIGV mRNA	28001369
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PIGV mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of PIGV mRNA	25554681
C025589	ochratoxin A	ochratoxin A results in decreased expression of PIGV mRNA	19287073
D010634	Phenobarbital	Phenobarbital affects the expression of PIGV mRNA	19159669
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of PIGV mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of PIGV mRNA	22079256
C017947	sodium arsenite	sodium arsenite affects the methylation of PIGV gene	28589171
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of PIGV mRNA	25613284
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of PIGV mRNA	28065790
D014635	Valproic Acid	Valproic Acid affects the expression of PIGV mRNA	25979313
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of PIGV gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0225	Disease mutation
KW-0256	Endoplasmic reticulum
KW-0328	Glycosyltransferase
KW-0337	GPI-anchor biosynthesis
KW-0472	Membrane
KW-0991	Mental retardation
KW-1185	Reference proteome
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR007315	PIG-V/Gpi18

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF04188	Mannosyl_trans2

Gene: PIGV

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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