PIGV (phosphatidylinositol glycan anchor biosynthesis class V) - Rat Genome Database

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Gene: PIGV (phosphatidylinositol glycan anchor biosynthesis class V) Homo sapiens
Analyze
Symbol: PIGV
Name: phosphatidylinositol glycan anchor biosynthesis class V
RGD ID: 1349310
HGNC Page HGNC
Description: Enables mannosyltransferase activity. Involved in GPI anchor biosynthetic process. Located in endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dol-P-Man dependent GPI mannosyltransferase; FLJ20477; GPI mannosyltransferase 2; GPI mannosyltransferase II; GPI-MT-II; HPMRS1; phosphatidylinositol glycan anchor biosynthesis, class V; phosphatidylinositol glycan, class V; phosphatidylinositol-glycan biosynthesis class V protein; PIG-V; RP1-50O24.2; Ybr004c homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl126,787,054 - 26,800,659 (+)EnsemblGRCh38hg38GRCh38
GRCh38126,787,054 - 26,800,659 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37127,113,545 - 27,127,150 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,987,073 - 26,997,474 (+)NCBINCBI36hg18NCBI36
Build 34126,798,627 - 26,809,028NCBI
Celera125,511,490 - 25,521,891 (+)NCBI
Cytogenetic Map1p36.11NCBI
HuRef125,367,661 - 25,377,950 (+)NCBIHuRef
CHM1_1127,227,705 - 27,238,150 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal heart morphology  (IAGP)
Abnormal parietal bone morphology  (IAGP)
Abnormal rectum morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormally large globe  (IAGP)
Absent speech  (IAGP)
Aganglionic megacolon  (IAGP)
Anteriorly placed anus  (IAGP)
Ataxia  (IAGP)
Athetosis  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid uvula  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Broad nasal tip  (IAGP)
Broad philtrum  (IAGP)
Bulbous nose  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral hypomyelination  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly  (IAGP)
Coarse facial features  (IAGP)
Constipation  (IAGP)
Cupped ear  (IAGP)
Decreased head circumference  (IAGP)
Delayed myelination  (IAGP)
Delayed ossification of carpal bones  (IAGP)
Downturned corners of mouth  (IAGP)
EEG with polyspike wave complexes  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Epicanthus  (IAGP)
Esotropia  (IAGP)
Feeding difficulties  (IAGP)
Gait disturbance  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dysplasia  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperconvex nail  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypotonia  (IAGP)
Increased head circumference  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Long palpebral fissure  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Myoclonus  (IAGP)
Oculomotor apraxia  (IAGP)
Oligohydramnios  (IAGP)
Pectus excavatum  (IAGP)
Plagiocephaly  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent nasal bridge  (IAGP)
Psychomotor retardation  (IAGP)
Reduced tendon reflexes  (IAGP)
Round face  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shallow anterior chamber  (IAGP)
Short distal phalanx of finger  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short toe  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Single umbilical artery  (IAGP)
Small nail  (IAGP)
Supernumerary nipple  (IAGP)
Tapered finger  (IAGP)
Telangiectasia  (IAGP)
Tented upper lip vermilion  (IAGP)
Thickened helices  (IAGP)
Thin upper lip vermilion  (IAGP)
Upslanted palpebral fissure  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:8125298   PMID:11102867   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15623507   PMID:15720390   PMID:16344560   PMID:16710414   PMID:20802478   PMID:21739589   PMID:21873635  
PMID:22228761   PMID:23694781   PMID:23824909   PMID:24097068   PMID:24129430   PMID:32814053  


Genomics

Comparative Map Data
PIGV
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl126,787,054 - 26,800,659 (+)EnsemblGRCh38hg38GRCh38
GRCh38126,787,054 - 26,800,659 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37127,113,545 - 27,127,150 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,987,073 - 26,997,474 (+)NCBINCBI36hg18NCBI36
Build 34126,798,627 - 26,809,028NCBI
Celera125,511,490 - 25,521,891 (+)NCBI
Cytogenetic Map1p36.11NCBI
HuRef125,367,661 - 25,377,950 (+)NCBIHuRef
CHM1_1127,227,705 - 27,238,150 (+)NCBICHM1_1
Pigv
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394133,387,071 - 133,401,498 (-)NCBIGRCm39mm39
GRCm39 Ensembl4133,387,698 - 133,399,958 (-)Ensembl
GRCm384133,659,359 - 133,673,995 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4133,660,387 - 133,672,647 (-)EnsemblGRCm38mm10GRCm38
MGSCv374133,217,340 - 133,228,562 (-)NCBIGRCm37mm9NCBIm37
MGSCv364132,932,463 - 132,944,696 (-)NCBImm8
Celera4131,837,214 - 131,848,418 (-)NCBICelera
Cytogenetic Map4D2.3NCBI
Pigv
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25145,889,642 - 145,901,533 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl5145,889,646 - 145,901,533 (-)Ensembl
Rnor_6.05151,886,132 - 151,899,024 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5151,886,035 - 151,898,022 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05155,574,856 - 155,587,320 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45151,404,858 - 151,416,748 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15151,414,896 - 151,426,783 (+)NCBI
Celera5144,310,621 - 144,322,511 (-)NCBICelera
Cytogenetic Map5q36NCBI
Pigv
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554526,128,262 - 6,139,204 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554526,128,262 - 6,139,204 (+)NCBIChiLan1.0ChiLan1.0
PIGV
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1127,108,230 - 27,119,055 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl127,109,102 - 27,119,055 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0126,051,863 - 26,065,415 (+)NCBIMhudiblu_PPA_v0panPan3
PIGV
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1273,315,589 - 73,326,116 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl273,315,568 - 73,324,831 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha269,892,989 - 69,903,513 (-)NCBI
ROS_Cfam_1.0273,878,780 - 73,889,304 (-)NCBI
UMICH_Zoey_3.1270,703,670 - 70,714,191 (-)NCBI
UNSW_CanFamBas_1.0271,709,231 - 71,719,738 (-)NCBI
UU_Cfam_GSD_1.0272,712,637 - 72,723,158 (-)NCBI
Pigv
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505845,378,926 - 45,390,936 (+)NCBI
SpeTri2.0NW_00493647411,204,595 - 11,215,677 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIGV
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl684,129,965 - 84,139,241 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1684,129,911 - 84,139,252 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2677,700,306 - 77,709,625 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIGV
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120105,964,491 - 105,977,459 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl20105,962,105 - 105,972,231 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603310,452,873 - 10,466,103 (+)NCBIVero_WHO_p1.0
Pigv
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476410,765,842 - 10,813,938 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-74476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,124,571 - 27,124,767UniSTSGRCh37
Build 36126,997,158 - 26,997,354RGDNCBI36
Celera125,521,575 - 25,521,771RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,377,627 - 25,377,823UniSTS
TNG Radiation Hybrid Map111328.0UniSTS
GeneMap99-GB4 RH Map192.97UniSTS
NCBI RH Map1142.5UniSTS
D1S2522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,124,634 - 27,124,750UniSTSGRCh37
Build 36126,997,221 - 26,997,337RGDNCBI36
Celera125,521,638 - 25,521,754RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,377,690 - 25,377,806UniSTS
TNG Radiation Hybrid Map111324.0UniSTS
GeneMap99-GB4 RH Map188.61UniSTS
NCBI RH Map1142.5UniSTS
D1S3416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,124,592 - 27,124,791UniSTSGRCh37
Build 36126,997,179 - 26,997,378RGDNCBI36
Celera125,521,596 - 25,521,795RGD
Cytogenetic Map1p36.11UniSTS
HuRef125,377,648 - 25,377,847UniSTS
GeneMap99-GB4 RH Map194.16UniSTS
GeneMap99-GB4 RH Map188.61UniSTS
Whitehead-RH Map196.7UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1142.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1594
Count of miRNA genes:763
Interacting mature miRNAs:857
Transcripts:ENST00000078527, ENST00000374145, ENST00000430292, ENST00000431541, ENST00000449950, ENST00000455364, ENST00000472757
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 760 275 1314 372 787 281 1992 324 839 262 1186 1113 103 241 1132 2
Low 1678 2695 412 252 1153 184 2364 1862 2895 157 274 499 72 1 963 1656 4 2
Below cutoff 1 20 11 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001202554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK000484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX405789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI463967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX867528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA280125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000078527   ⟹   ENSP00000078527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,788,928 - 26,798,268 (+)Ensembl
RefSeq Acc Id: ENST00000374145   ⟹   ENSP00000363260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,788,177 - 26,798,268 (+)Ensembl
RefSeq Acc Id: ENST00000431541   ⟹   ENSP00000388425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,788,177 - 26,800,642 (+)Ensembl
RefSeq Acc Id: ENST00000455364   ⟹   ENSP00000406080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,787,054 - 26,798,257 (+)Ensembl
RefSeq Acc Id: ENST00000472757   ⟹   ENSP00000436884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,787,964 - 26,797,807 (+)Ensembl
RefSeq Acc Id: ENST00000674202   ⟹   ENSP00000501479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,787,950 - 26,800,659 (+)Ensembl
RefSeq Acc Id: ENST00000674222   ⟹   ENSP00000501335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,787,967 - 26,800,659 (+)Ensembl
RefSeq Acc Id: ENST00000674273   ⟹   ENSP00000501527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,788,195 - 26,800,652 (+)Ensembl
RefSeq Acc Id: ENST00000674317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,789,309 - 26,798,302 (+)Ensembl
RefSeq Acc Id: ENST00000674335   ⟹   ENSP00000501446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl126,787,675 - 26,800,645 (+)Ensembl
RefSeq Acc Id: NM_001202554   ⟹   NP_001189483
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,788,188 - 26,800,659 (+)NCBI
GRCh37127,113,739 - 27,124,894 (+)NCBI
HuRef125,367,661 - 25,377,950 (+)ENTREZGENE
CHM1_1127,227,930 - 27,238,150 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374478   ⟹   NP_001361407
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,054 - 26,800,659 (+)NCBI
RefSeq Acc Id: NM_001374480   ⟹   NP_001361409
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,549 - 26,800,659 (+)NCBI
RefSeq Acc Id: NM_001374481   ⟹   NP_001361410
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,549 - 26,800,659 (+)NCBI
RefSeq Acc Id: NM_001374482   ⟹   NP_001361411
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,788,188 - 26,800,659 (+)NCBI
RefSeq Acc Id: NM_001374483   ⟹   NP_001361412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,549 - 26,800,659 (+)NCBI
RefSeq Acc Id: NM_001374484   ⟹   NP_001361413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,549 - 26,800,659 (+)NCBI
RefSeq Acc Id: NM_001374485   ⟹   NP_001361414
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,788,188 - 26,800,659 (+)NCBI
RefSeq Acc Id: NM_001374486   ⟹   NP_001361415
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,950 - 26,800,659 (+)NCBI
RefSeq Acc Id: NM_017837   ⟹   NP_060307
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,950 - 26,800,659 (+)NCBI
GRCh37127,113,739 - 27,124,894 (+)NCBI
Build 36126,987,073 - 26,997,474 (+)NCBI Archive
Celera125,511,490 - 25,521,891 (+)RGD
HuRef125,367,661 - 25,377,950 (+)ENTREZGENE
CHM1_1127,227,705 - 27,238,150 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164651
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,549 - 26,800,659 (+)NCBI
RefSeq Acc Id: NR_164652
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,950 - 26,800,659 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_060307   ⟸   NM_017837
- Peptide Label: isoform a
- UniProtKB: Q9NUD9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001189483   ⟸   NM_001202554
- Peptide Label: isoform a
- UniProtKB: Q9NUD9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001361407   ⟸   NM_001374478
- Peptide Label: isoform a
RefSeq Acc Id: NP_001361409   ⟸   NM_001374480
- Peptide Label: isoform a
RefSeq Acc Id: NP_001361410   ⟸   NM_001374481
- Peptide Label: isoform a
RefSeq Acc Id: NP_001361413   ⟸   NM_001374484
- Peptide Label: isoform c
RefSeq Acc Id: NP_001361412   ⟸   NM_001374483
- Peptide Label: isoform b
RefSeq Acc Id: NP_001361415   ⟸   NM_001374486
- Peptide Label: isoform d
RefSeq Acc Id: NP_001361414   ⟸   NM_001374485
- Peptide Label: isoform c
RefSeq Acc Id: NP_001361411   ⟸   NM_001374482
- Peptide Label: isoform a
RefSeq Acc Id: ENSP00000501446   ⟸   ENST00000674335
RefSeq Acc Id: ENSP00000501335   ⟸   ENST00000674222
RefSeq Acc Id: ENSP00000501479   ⟸   ENST00000674202
RefSeq Acc Id: ENSP00000501527   ⟸   ENST00000674273
RefSeq Acc Id: ENSP00000363260   ⟸   ENST00000374145
RefSeq Acc Id: ENSP00000406080   ⟸   ENST00000455364
RefSeq Acc Id: ENSP00000078527   ⟸   ENST00000078527
RefSeq Acc Id: ENSP00000388425   ⟸   ENST00000431541
RefSeq Acc Id: ENSP00000436884   ⟸   ENST00000472757

Promoters
RGD ID:6854640
Promoter ID:EPDNEW_H485
Type:initiation region
Name:PIGV_3
Description:phosphatidylinositol glycan anchor biosynthesis class V
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H486  EPDNEW_H488  EPDNEW_H489  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,058 - 26,787,118EPDNEW
RGD ID:6854642
Promoter ID:EPDNEW_H486
Type:initiation region
Name:PIGV_2
Description:phosphatidylinositol glycan anchor biosynthesis class V
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H485  EPDNEW_H488  EPDNEW_H489  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,787,289 - 26,787,349EPDNEW
RGD ID:6854646
Promoter ID:EPDNEW_H488
Type:initiation region
Name:PIGV_4
Description:phosphatidylinositol glycan anchor biosynthesis class V
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H485  EPDNEW_H486  EPDNEW_H489  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,788,000 - 26,788,060EPDNEW
RGD ID:6854648
Promoter ID:EPDNEW_H489
Type:initiation region
Name:PIGV_1
Description:phosphatidylinositol glycan anchor biosynthesis class V
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H485  EPDNEW_H486  EPDNEW_H488  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,788,188 - 26,788,248EPDNEW
RGD ID:6786242
Promoter ID:HG_KWN:1526
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000011440,   OTTHUMT00000011442,   OTTHUMT00000011703,   OTTHUMT00000011704,   UC001BMY.1,   UC001BNA.1,   UC009VSO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,986,086 - 26,987,307 (+)MPROMDB
RGD ID:6809655
Promoter ID:HG_ACW:1174
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:PIGVANDZDHHC18.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,988,166 - 26,989,617 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000765106]|not provided [RCV001662530] Chr1:26794149 [GRCh38]
Chr1:27120640 [GRCh37]
Chr1:1p36.11
conflicting interpretations of pathogenicity|uncertain significance
NM_017837.4(PIGV):c.1147G>A (p.Val383Met) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001099658]|not provided [RCV000521023] Chr1:26795181 [GRCh38]
Chr1:27121672 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.467G>A (p.Cys156Tyr) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000023806]|not provided [RCV000413902] Chr1:26794501 [GRCh38]
Chr1:27120992 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000001347]|Hyperphosphatasia-intellectual disability syndrome [RCV000613584]|Inborn genetic diseases [RCV000190698]|not provided [RCV000396582] Chr1:26795056 [GRCh38]
Chr1:27121547 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_017837.3(PIGV):c.1154A>C (p.His385Pro) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000001348] Chr1:26795188 [GRCh38]
Chr1:27121679 [GRCh37]
Chr1:1p36.11
pathogenic
NM_017837.3(PIGV):c.766C>A (p.Gln256Lys) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000001349] Chr1:26794800 [GRCh38]
Chr1:27121291 [GRCh37]
Chr1:1p36.11
pathogenic
NM_017837.3(PIGV):c.1022C>T (p.Ala341Val) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000001350] Chr1:26795056 [GRCh38]
Chr1:27121547 [GRCh37]
Chr1:1p36.11
pathogenic
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000122740]|not provided [RCV001529258] Chr1:26794528 [GRCh38]
Chr1:27121019 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000294158]|not provided [RCV000724080] Chr1:26797639 [GRCh38]
Chr1:27124130 [GRCh37]
Chr1:1p36.11
conflicting interpretations of pathogenicity|uncertain significance
NM_017837.3(PIGV):c.*385A>T single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000265213] Chr1:26798229 [GRCh38]
Chr1:27124720 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000286962]|not provided [RCV000514626]|not specified [RCV000455981] Chr1:26794383 [GRCh38]
Chr1:27120874 [GRCh37]
Chr1:1p36.11
conflicting interpretations of pathogenicity|uncertain significance
NM_017837.3(PIGV):c.851G>A (p.Gly284Asp) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000278822] Chr1:26794885 [GRCh38]
Chr1:27121376 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.808C>T (p.Arg270Cys) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000373188]|not provided [RCV001349252] Chr1:26794842 [GRCh38]
Chr1:27121333 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.348G>A (p.Leu116=) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000376742]|not provided [RCV000512822]|not specified [RCV000455608] Chr1:26794382 [GRCh38]
Chr1:27120873 [GRCh37]
Chr1:1p36.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000327702]|not provided [RCV000966354]|not specified [RCV000427983] Chr1:26794135 [GRCh38]
Chr1:27120626 [GRCh37]
Chr1:1p36.11
benign|likely benign|uncertain significance
NM_017837.3(PIGV):c.-338A>C single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000276263] Chr1:26787988 [GRCh38]
Chr1:27114479 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_017837.4(PIGV):c.*441C>T single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000321316] Chr1:26798285 [GRCh38]
Chr1:27124776 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.-323C>T single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000362433] Chr1:26788003 [GRCh38]
Chr1:27114494 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.*149G>A single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000363388] Chr1:26797993 [GRCh38]
Chr1:27124484 [GRCh37]
Chr1:1p36.11
benign|uncertain significance
NM_017837.3(PIGV):c.-333C>T single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000326362] Chr1:26787993 [GRCh38]
Chr1:27114484 [GRCh37]
Chr1:1p36.11
benign|uncertain significance
NM_017837.4(PIGV):c.*210A>G single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000309879]|not provided [RCV001675777] Chr1:26798054 [GRCh38]
Chr1:27124545 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_017837.4(PIGV):c.134G>A (p.Arg45His) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000768044]|not provided [RCV000726136] Chr1:26794168 [GRCh38]
Chr1:27120659 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.3(PIGV):c.-57-6G>A single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000272689] Chr1:26790753 [GRCh38]
Chr1:27117244 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val) indel Hyperphosphatasia with mental retardation syndrome 1 [RCV000765107]|not provided [RCV000726297] Chr1:26794382..26794383 [GRCh38]
Chr1:27120873..27120874 [GRCh37]
Chr1:1p36.11
conflicting interpretations of pathogenicity|uncertain significance
NM_017837.4(PIGV):c.678G>A (p.Thr226=) single nucleotide variant not provided [RCV000290761] Chr1:26794712 [GRCh38]
Chr1:27121203 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.3(PIGV):c.*518dup duplication Hyperphosphatasia-intellectual disability syndrome [RCV000267420] Chr1:26798361..26798362 [GRCh38]
Chr1:27124852..27124853 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000765108]|not provided [RCV000983824]|not specified [RCV000490215] Chr1:26797731 [GRCh38]
Chr1:27124222 [GRCh37]
Chr1:1p36.11
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017837.4(PIGV):c.*453A>T single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000361959] Chr1:26798297 [GRCh38]
Chr1:27124788 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.*367A>G single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000364447] Chr1:26798211 [GRCh38]
Chr1:27124702 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.1477A>G (p.Thr493Ala) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000403426] Chr1:26797839 [GRCh38]
Chr1:27124330 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.3(PIGV):c.-370G>A single nucleotide variant Hyperphosphatasia-intellectual disability syndrome [RCV000339893] Chr1:26787956 [GRCh38]
Chr1:27114447 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.1464C>T (p.Asn488=) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000349117] Chr1:26797826 [GRCh38]
Chr1:27124317 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.*186G>T single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000405349] Chr1:26798030 [GRCh38]
Chr1:27124521 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.531A>T (p.Thr177=) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000323165] Chr1:26794565 [GRCh38]
Chr1:27121056 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.3(PIGV):c.1008A>G (p.Ile336Met) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000338501] Chr1:26795042 [GRCh38]
Chr1:27121533 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.3(PIGV):c.1213T>A (p.Phe405Ile) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000391703] Chr1:26797575 [GRCh38]
Chr1:27124066 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.*110T>C single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000313418] Chr1:26797954 [GRCh38]
Chr1:27124445 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.809G>A (p.Arg270His) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001097860]|not specified [RCV000600573] Chr1:26794843 [GRCh38]
Chr1:27121334 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_017837.4(PIGV):c.615C>G (p.Asn205Lys) single nucleotide variant not provided [RCV000591654] Chr1:26794649 [GRCh38]
Chr1:27121140 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.354G>A (p.Ser118=) single nucleotide variant not specified [RCV000601254] Chr1:26794388 [GRCh38]
Chr1:27120879 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.781dup (p.Thr261fs) duplication not provided [RCV000733944] Chr1:26794814..26794815 [GRCh38]
Chr1:27121305..27121306 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_017837.3(PIGV):c.1220G>C (p.Gly407Ala) single nucleotide variant not provided [RCV000524036] Chr1:26797582 [GRCh38]
Chr1:27124073 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.854A>G (p.Tyr285Cys) single nucleotide variant not provided [RCV000594738] Chr1:26794888 [GRCh38]
Chr1:27121379 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.891C>A (p.Phe297Leu) single nucleotide variant not specified [RCV000413924] Chr1:26794925 [GRCh38]
Chr1:27121416 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.452C>G (p.Ala151Gly) single nucleotide variant not provided [RCV000437697] Chr1:26794486 [GRCh38]
Chr1:27120977 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.5G>C (p.Trp2Ser) single nucleotide variant not provided [RCV000726906] Chr1:26790820 [GRCh38]
Chr1:27117311 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.735G>A (p.Val245=) single nucleotide variant not provided [RCV001429281]|not specified [RCV000434897] Chr1:26794769 [GRCh38]
Chr1:27121260 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.638T>C (p.Leu213Pro) single nucleotide variant not provided [RCV000442084] Chr1:26794672 [GRCh38]
Chr1:27121163 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.600T>C (p.Thr200=) single nucleotide variant not specified [RCV000435131] Chr1:26794634 [GRCh38]
Chr1:27121125 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.183C>T (p.Gly61=) single nucleotide variant not specified [RCV000438573] Chr1:26794217 [GRCh38]
Chr1:27120708 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.615C>T (p.Asn205=) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001097858]|not provided [RCV000513788]|not specified [RCV000428348] Chr1:26794649 [GRCh38]
Chr1:27121140 [GRCh37]
Chr1:1p36.11
benign|likely benign
NM_017837.4(PIGV):c.94A>G (p.Ile32Val) single nucleotide variant not provided [RCV000429430] Chr1:26794128 [GRCh38]
Chr1:27120619 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.1452C>G (p.Leu484=) single nucleotide variant not specified [RCV000436075] Chr1:26797814 [GRCh38]
Chr1:27124305 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.872A>G (p.Asn291Ser) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001335871]|not provided [RCV000422361] Chr1:26794906 [GRCh38]
Chr1:27121397 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.390T>C (p.Ala130=) single nucleotide variant not provided [RCV001721316] Chr1:26794424 [GRCh38]
Chr1:27120915 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.879G>A (p.Pro293=) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001099655]|not provided [RCV000430252] Chr1:26794913 [GRCh38]
Chr1:27121404 [GRCh37]
Chr1:1p36.11
likely benign|uncertain significance
NM_017837.4(PIGV):c.111T>C (p.His37=) single nucleotide variant not specified [RCV000433638] Chr1:26794145 [GRCh38]
Chr1:27120636 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.3(PIGV):c.783C>T (p.Thr261=) single nucleotide variant not provided [RCV000977346] Chr1:26794817 [GRCh38]
Chr1:27121308 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.258C>T (p.Ala86=) single nucleotide variant not specified [RCV000444759] Chr1:26794292 [GRCh38]
Chr1:27120783 [GRCh37]
Chr1:1p36.11
likely benign
GRCh37/hg19 1p36.11(chr1:27119557-27547784)x3 copy number gain See cases [RCV000448699] Chr1:27119557..27547784 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.614A>G (p.Asn205Ser) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001097857]|Inborn genetic diseases [RCV001267017]|not provided [RCV000482776] Chr1:26794648 [GRCh38]
Chr1:27121139 [GRCh37]
Chr1:1p36.11
likely pathogenic|uncertain significance
NM_017837.4(PIGV):c.1415T>C (p.Leu472Pro) single nucleotide variant Elevated alkaline phosphatase [RCV001533552]|not provided [RCV000479838] Chr1:26797777 [GRCh38]
Chr1:27124268 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_017837.4(PIGV):c.133C>T (p.Arg45Cys) single nucleotide variant not provided [RCV000478841] Chr1:26794167 [GRCh38]
Chr1:27120658 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_017837.3(PIGV):c.-8G>T single nucleotide variant not provided [RCV000498465] Chr1:26790808 [GRCh38]
Chr1:27117299 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.3(PIGV):c.1313C>T (p.Pro438Leu) single nucleotide variant not provided [RCV000494191] Chr1:26797675 [GRCh38]
Chr1:27124166 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.3(PIGV):c.1084A>C (p.Lys362Gln) single nucleotide variant not provided [RCV000493284] Chr1:26795118 [GRCh38]
Chr1:27121609 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_017837.4(PIGV):c.728T>C (p.Leu243Pro) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000768045] Chr1:26794762 [GRCh38]
Chr1:27121253 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.1453C>T (p.Leu485=) single nucleotide variant not provided [RCV001697942] Chr1:26797815 [GRCh38]
Chr1:27124306 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.3(PIGV):c.1278G>A (p.Pro426=) single nucleotide variant not specified [RCV000612128] Chr1:26797640 [GRCh38]
Chr1:27124131 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.3(PIGV):c.346C>T (p.Leu116=) single nucleotide variant not specified [RCV000609808] Chr1:26794380 [GRCh38]
Chr1:27120871 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.3(PIGV):c.804A>G (p.Ser268=) single nucleotide variant not specified [RCV000607239] Chr1:26794838 [GRCh38]
Chr1:27121329 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.354G>C (p.Ser118=) single nucleotide variant not provided [RCV000913121]|not specified [RCV000610797] Chr1:26794388 [GRCh38]
Chr1:27120879 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.3(PIGV):c.945C>T (p.Gly315=) single nucleotide variant not specified [RCV000611025] Chr1:26794979 [GRCh38]
Chr1:27121470 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.3(PIGV):c.333A>G (p.Leu111=) single nucleotide variant not specified [RCV000614094] Chr1:26794367 [GRCh38]
Chr1:27120858 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.1155C>T (p.His385=) single nucleotide variant not provided [RCV001697466] Chr1:26795189 [GRCh38]
Chr1:27121680 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.3(PIGV):c.684G>A (p.Leu228=) single nucleotide variant not provided [RCV000885016] Chr1:26794718 [GRCh38]
Chr1:27121209 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.55C>T (p.Arg19Cys) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV000660523] Chr1:26790870 [GRCh38]
Chr1:27117361 [GRCh37]
Chr1:1p36.11
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_017837.4(PIGV):c.1227C>T (p.Ser409=) single nucleotide variant not provided [RCV001545148] Chr1:26797589 [GRCh38]
Chr1:27124080 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.786A>T (p.Gln262His) single nucleotide variant not provided [RCV001577750] Chr1:26794820 [GRCh38]
Chr1:27121311 [GRCh37]
Chr1:1p36.11
uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_017837.4(PIGV):c.1242C>T (p.Tyr414=) single nucleotide variant not provided [RCV000983308] Chr1:26797604 [GRCh38]
Chr1:27124095 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.1455A>G (p.Leu485=) single nucleotide variant not provided [RCV000894952] Chr1:26797817 [GRCh38]
Chr1:27124308 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.999A>C (p.Pro333=) single nucleotide variant not provided [RCV000920727] Chr1:26795033 [GRCh38]
Chr1:27121524 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.450T>C (p.Tyr150=) single nucleotide variant not provided [RCV000840968] Chr1:26794484 [GRCh38]
Chr1:27120975 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.1200+196C>A single nucleotide variant not provided [RCV000826630] Chr1:26795430 [GRCh38]
Chr1:27121921 [GRCh37]
Chr1:1p36.11
benign
NM_017837.4(PIGV):c.1200+205G>A single nucleotide variant not provided [RCV000836985] Chr1:26795439 [GRCh38]
Chr1:27121930 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.626G>C (p.Ser209Thr) single nucleotide variant not provided [RCV000816247] Chr1:26794660 [GRCh38]
Chr1:27121151 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.1201-190G>A single nucleotide variant not provided [RCV000826631] Chr1:26797373 [GRCh38]
Chr1:27123864 [GRCh37]
Chr1:1p36.11
benign
NM_017837.4(PIGV):c.732G>A (p.Ser244=) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001097859] Chr1:26794766 [GRCh38]
Chr1:27121257 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.312C>G (p.Pro104=) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001096105] Chr1:26794346 [GRCh38]
Chr1:27120837 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.-62C>T single nucleotide variant not provided [RCV000842209] Chr1:26788264 [GRCh38]
Chr1:27114755 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.968A>G (p.Lys323Arg) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001099656] Chr1:26795002 [GRCh38]
Chr1:27121493 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.607C>T (p.Arg203Cys) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001262427]|not provided [RCV001090918] Chr1:26794641 [GRCh38]
Chr1:27121132 [GRCh37]
Chr1:1p36.11
pathogenic|likely pathogenic
NM_017837.4(PIGV):c.980A>G (p.Asn327Ser) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001099657]|not provided [RCV001547871] Chr1:26795014 [GRCh38]
Chr1:27121505 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.223G>A (p.Ala75Thr) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001096103] Chr1:26794257 [GRCh38]
Chr1:27120748 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.265C>T (p.Pro89Ser) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001096104] Chr1:26794299 [GRCh38]
Chr1:27120790 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.*473T>G single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001096211] Chr1:26798317 [GRCh38]
Chr1:27124808 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.876A>G (p.Glu292=) single nucleotide variant not provided [RCV001550470] Chr1:26794910 [GRCh38]
Chr1:27121401 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.1155C>A (p.His385Gln) single nucleotide variant not provided [RCV001575802] Chr1:26795189 [GRCh38]
Chr1:27121680 [GRCh37]
Chr1:1p36.11
uncertain significance
null single nucleotide variant not provided [RCV001583601] Chr1:26788698 [GRCh38]
Chr1:27115189 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.473G>A (p.Ser158Asn) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001097856]|not provided [RCV000908864] Chr1:26794507 [GRCh38]
Chr1:27120998 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.1467C>G (p.Phe489Leu) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001101648]|not provided [RCV001562812] Chr1:26797829 [GRCh38]
Chr1:27124320 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.78+4A>G single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001096102] Chr1:26790897 [GRCh38]
Chr1:27117388 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.549G>A (p.Gln183=) single nucleotide variant not provided [RCV000911110] Chr1:26794583 [GRCh38]
Chr1:27121074 [GRCh37]
Chr1:1p36.11
likely benign
NM_017837.4(PIGV):c.304T>C (p.Leu102=) single nucleotide variant not provided [RCV001575159] Chr1:26794338 [GRCh38]
Chr1:27120829 [GRCh37]
Chr1:1p36.11
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001653146] Chr1:26797679 [GRCh38]
Chr1:27124170 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.-166G>A single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001101543] Chr1:26788160 [GRCh38]
Chr1:27114651 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_000384.3(APOB):c.3122-6G>A single nucleotide variant not provided [RCV001703276] Chr1:26794473 [GRCh38]
Chr1:27120964 [GRCh37]
Chr1:1p36.11
pathogenic
NM_017837.4(PIGV):c.*456C>T single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001096210] Chr1:26798300 [GRCh38]
Chr1:27124791 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.482A>G (p.Asn161Ser) single nucleotide variant not provided [RCV001219927] Chr1:26794516 [GRCh38]
Chr1:27121007 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.-184G>T single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001101542] Chr1:26788142 [GRCh38]
Chr1:27114633 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.*167G>A single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001101650] Chr1:26798011 [GRCh38]
Chr1:27124502 [GRCh37]
Chr1:1p36.11
benign
NM_017837.4(PIGV):c.-68G>A single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001096101] Chr1:26788258 [GRCh38]
Chr1:27114749 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.*114C>A single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001101649] Chr1:26797958 [GRCh38]
Chr1:27124449 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.1253C>A (p.Ala418Asp) single nucleotide variant Inborn genetic diseases [RCV001267018] Chr1:26797615 [GRCh38]
Chr1:27124106 [GRCh37]
Chr1:1p36.11
likely pathogenic
NM_017837.4(PIGV):c.856C>T (p.Arg286Trp) single nucleotide variant not provided [RCV001304955] Chr1:26794890 [GRCh38]
Chr1:27121381 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.184G>A (p.Gly62Ser) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001330788]|not provided [RCV001550370] Chr1:26794218 [GRCh38]
Chr1:27120709 [GRCh37]
Chr1:1p36.11
uncertain significance
NM_017837.4(PIGV):c.242A>G (p.Tyr81Cys) single nucleotide variant Hyperphosphatasia with mental retardation syndrome 1 [RCV001509559] Chr1:26794276 [GRCh38]
Chr1:27120767 [GRCh37]
Chr1:1p36.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26031 AgrOrtholog
COSMIC PIGV COSMIC
Ensembl Genes ENSG00000060642 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000078527 UniProtKB/Swiss-Prot
  ENSP00000363260 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388425 UniProtKB/TrEMBL
  ENSP00000406080 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000436884 UniProtKB/TrEMBL
  ENSP00000501335 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501446 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501479 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501527 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000078527 UniProtKB/Swiss-Prot
  ENST00000374145 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000431541 UniProtKB/TrEMBL
  ENST00000455364 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000472757 UniProtKB/TrEMBL
  ENST00000674202 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674222 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674273 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674335 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000060642 GTEx
HGNC ID HGNC:26031 ENTREZGENE
Human Proteome Map PIGV Human Proteome Map
InterPro PIG-V/Gpi18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55650 UniProtKB/Swiss-Prot
NCBI Gene 55650 ENTREZGENE
OMIM 239300 OMIM
  610274 OMIM
PANTHER PTHR12468 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mannosyl_trans2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134952230 PharmGKB
UniProt A0A0A0MSX6_HUMAN UniProtKB/TrEMBL
  A0A6I8PU65_HUMAN UniProtKB/TrEMBL
  E9PQC7_HUMAN UniProtKB/TrEMBL
  PIGV_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  X1WI27_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DPL2 UniProtKB/Swiss-Prot
  Q5JYG7 UniProtKB/Swiss-Prot
  Q5JYG8 UniProtKB/Swiss-Prot
  Q5JYG9 UniProtKB/Swiss-Prot
  Q9NX26 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 PIGV  phosphatidylinositol glycan anchor biosynthesis class V    phosphatidylinositol glycan anchor biosynthesis, class V  Symbol and/or name change 5135510 APPROVED