PIGM (phosphatidylinositol glycan anchor biosynthesis class M) - Rat Genome Database

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Gene: PIGM (phosphatidylinositol glycan anchor biosynthesis class M) Homo sapiens
Analyze
Symbol: PIGM
Name: phosphatidylinositol glycan anchor biosynthesis class M
RGD ID: 1346161
HGNC Page HGNC:18858
Description: Predicted to enable mannosyltransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be part of glycosylphosphatidylinositol-mannosyltransferase I complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dol-P-Man dependent GPI mannosyltransferase; DPM:GlcN-(acyl-)PI mannosyltransferase; GPI mannosyltransferase 1; GPI mannosyltransferase I; GPI-MT-I; MGC29896; phosphatidylinositol glycan anchor biosynthesis, class M; phosphatidylinositol-glycan biosynthesis class M protein; PIG-M mannosyltransferase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381160,024,953 - 160,031,990 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1160,024,953 - 160,031,990 (-)EnsemblGRCh38hg38GRCh38
GRCh371159,994,743 - 160,001,780 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,264,086 - 158,268,407 (-)NCBINCBI36Build 36hg18NCBI36
Build 341156,812,769 - 156,814,821NCBI
Celera1133,065,903 - 133,070,225 (-)NCBICelera
Cytogenetic Map1q23.2NCBI
HuRef1131,354,186 - 131,358,509 (-)NCBIHuRef
CHM1_11161,392,783 - 161,397,106 (-)NCBICHM1_1
T2T-CHM13v2.01159,162,027 - 159,169,067 (-)NCBIT2T-CHM13v2.0
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
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER. Maeda Y, etal., EMBO J 2001 Jan 15;20(1-2):250-61.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11102867   PMID:12477932   PMID:15489334   PMID:15635094   PMID:16303743   PMID:16710414   PMID:16767100   PMID:19322201   PMID:21873635   PMID:21988832   PMID:23329837   PMID:25293775  
PMID:26186194   PMID:28298427   PMID:28514442   PMID:29676528   PMID:29764287   PMID:33961781   PMID:35559673   PMID:37314216  


Genomics

Comparative Map Data
PIGM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381160,024,953 - 160,031,990 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1160,024,953 - 160,031,990 (-)EnsemblGRCh38hg38GRCh38
GRCh371159,994,743 - 160,001,780 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,264,086 - 158,268,407 (-)NCBINCBI36Build 36hg18NCBI36
Build 341156,812,769 - 156,814,821NCBI
Celera1133,065,903 - 133,070,225 (-)NCBICelera
Cytogenetic Map1q23.2NCBI
HuRef1131,354,186 - 131,358,509 (-)NCBIHuRef
CHM1_11161,392,783 - 161,397,106 (-)NCBICHM1_1
T2T-CHM13v2.01159,162,027 - 159,169,067 (-)NCBIT2T-CHM13v2.0
Pigm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391172,204,098 - 172,211,666 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1172,204,113 - 172,211,666 (+)EnsemblGRCm39 Ensembl
GRCm381172,376,531 - 172,384,099 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1172,376,546 - 172,384,099 (+)EnsemblGRCm38mm10GRCm38
MGSCv371174,306,662 - 174,314,230 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361174,213,231 - 174,217,208 (+)NCBIMGSCv36mm8
Celera1175,229,959 - 175,237,523 (+)NCBICelera
Cytogenetic Map1H3NCBI
cM Map179.73NCBI
Pigm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81387,370,693 - 87,374,390 (+)NCBIGRCr8
mRatBN7.21384,838,329 - 84,842,026 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1384,838,175 - 84,843,381 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1387,341,646 - 87,345,343 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01388,741,920 - 88,745,617 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01385,926,307 - 85,930,006 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01390,759,260 - 90,762,957 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1390,759,260 - 90,762,957 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01395,281,187 - 95,284,884 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41388,377,212 - 88,380,909 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11388,566,095 - 88,569,793 (+)NCBI
Celera1384,448,384 - 84,452,081 (+)NCBICelera
Cytogenetic Map13q24NCBI
Pigm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546811,818,604 - 11,819,872 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546811,817,647 - 11,820,456 (-)NCBIChiLan1.0ChiLan1.0
PIGM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2189,820,391 - 89,827,205 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1189,560,492 - 89,567,215 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01135,378,843 - 135,387,789 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11139,303,208 - 139,307,797 (-)NCBIpanpan1.1PanPan1.1panPan2
PIGM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13822,150,006 - 22,151,589 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3822,225,395 - 22,230,629 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03822,269,869 - 22,271,417 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3822,269,352 - 22,271,115 (+)EnsemblROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.03822,570,098 - 22,575,352 (+)NCBIUNSW_CanFamBas_1.0
Pigm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050586,156,494 - 6,158,603 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936740596,072 - 597,343 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936740595,932 - 597,964 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIGM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1490,461,507 - 90,464,500 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2498,432,754 - 98,434,851 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PIGM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1203,913,163 - 3,914,853 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl203,913,336 - 3,914,607 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660382,969,696 - 2,972,124 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pigm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247941,220,121 - 1,221,392 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247941,220,004 - 1,222,259 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIGM
88 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000001.11:g.160032009G>C single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV000001351] Chr1:160032009 [GRCh38]
Chr1:160001799 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_145167.3(PIGM):c.6C>T (p.Gly2=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV000958508]|not provided [RCV003411664]|not specified [RCV000727605] Chr1:160031734 [GRCh38]
Chr1:160001524 [GRCh37]
Chr1:1q23.2		 benign|likely benign
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1		 pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3		 pathogenic
NM_145167.3(PIGM):c.137G>A (p.Arg46Lys) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001852112]|not provided [RCV000173570] Chr1:160031603 [GRCh38]
Chr1:160001393 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.819G>A (p.Pro273=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV000554780]|not provided [RCV004714527]|not specified [RCV000173571] Chr1:160030921 [GRCh38]
Chr1:160000711 [GRCh37]
Chr1:1q23.2		 benign|uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
NM_145167.3(PIGM):c.961A>G (p.Thr321Ala) single nucleotide variant not provided [RCV000490116]|not specified [RCV004023253] Chr1:160030779 [GRCh38]
Chr1:160000569 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.122G>A (p.Arg41Gln) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002526031]|not provided [RCV000490134]|not specified [RCV004023252] Chr1:160031618 [GRCh38]
Chr1:160001408 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1254_1257del (p.Arg419fs) microsatellite Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001206454]|PIGM-related disorder [RCV003392444]|not provided [RCV000734179]|not specified [RCV004024876] Chr1:160030483..160030486 [GRCh38]
Chr1:160000273..160000276 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1q23.2(chr1:159997893-160000549)x1 copy number loss See cases [RCV000448310] Chr1:159997893..160000549 [GRCh37]
Chr1:1q23.2		 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
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_145167.3(PIGM):c.122G>C (p.Arg41Pro) single nucleotide variant not specified [RCV004313980] Chr1:160031618 [GRCh38]
Chr1:160001408 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.2T>C (p.Met1Thr) single nucleotide variant Inborn genetic diseases [RCV000623457] Chr1:160031738 [GRCh38]
Chr1:160001528 [GRCh37]
Chr1:1q23.2		 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
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2		 pathogenic
GRCh37/hg19 1q23.2(chr1:159995841-160006809)x1 copy number loss not provided [RCV000749203] Chr1:159995841..160006809 [GRCh37]
Chr1:1q23.2		 benign
NM_145167.3(PIGM):c.950G>A (p.Cys317Tyr) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV000793167]|not specified [RCV004027436] Chr1:160030790 [GRCh38]
Chr1:160000580 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3 copy number gain not provided [RCV000846649] Chr1:159808188..161011163 [GRCh37]
Chr1:1q23.2-23.3		 uncertain significance
NM_145167.3(PIGM):c.238C>G (p.Leu80Val) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV000823631]|not specified [RCV004029149] Chr1:160031502 [GRCh38]
Chr1:160001292 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.11:g.(?_160030448)_(160032009_?)del deletion Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV000794820] Chr1:160030448..160032009 [GRCh38]
Chr1:160000238..160001799 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2		 pathogenic
NC_000001.11:g.160032179C>T single nucleotide variant not provided [RCV001676272] Chr1:160032179 [GRCh38]
Chr1:160001969 [GRCh37]
Chr1:1q23.2		 benign
NM_145167.3(PIGM):c.525C>T (p.Phe175=) single nucleotide variant not provided [RCV000931839] Chr1:160031215 [GRCh38]
Chr1:160001005 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.120C>T (p.Asp40=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002540044]|PIGM-related disorder [RCV003930611] Chr1:160031620 [GRCh38]
Chr1:160001410 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_145167.3(PIGM):c.294C>T (p.Leu98=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001480913]|PIGM-related disorder [RCV003923133] Chr1:160031446 [GRCh38]
Chr1:160001236 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.582G>T (p.Leu194=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV000955803]|not provided [RCV004715359] Chr1:160031158 [GRCh38]
Chr1:160000948 [GRCh37]
Chr1:1q23.2		 benign
NM_145167.3(PIGM):c.-137A>G single nucleotide variant not provided [RCV001596214] Chr1:160031876 [GRCh38]
Chr1:160001666 [GRCh37]
Chr1:1q23.2		 benign
NC_000001.11:g.160032179C>G single nucleotide variant not provided [RCV001560365] Chr1:160032179 [GRCh38]
Chr1:160001969 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.104A>G (p.Tyr35Cys) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001247956] Chr1:160031636 [GRCh38]
Chr1:160001426 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_145167.3(PIGM):c.59G>A (p.Gly20Asp) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001301494] Chr1:160031681 [GRCh38]
Chr1:160001471 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1042C>G (p.Pro348Ala) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001319848]|not specified [RCV004034987] Chr1:160030698 [GRCh38]
Chr1:160000488 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1001A>C (p.Gln334Pro) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001364648] Chr1:160030739 [GRCh38]
Chr1:160000529 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.412A>G (p.Met138Val) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001323356]|not specified [RCV004035098] Chr1:160031328 [GRCh38]
Chr1:160001118 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.999C>T (p.Ser333=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001523026]|PIGM-related disorder [RCV004743542]|not provided [RCV003326585] Chr1:160030741 [GRCh38]
Chr1:160000531 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_145167.3(PIGM):c.1017C>T (p.Tyr339=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001451157] Chr1:160030723 [GRCh38]
Chr1:160000513 [GRCh37]
Chr1:1q23.2		 likely benign
NC_000001.11:g.160032114C>A single nucleotide variant not provided [RCV001674880] Chr1:160032114 [GRCh38]
Chr1:160001904 [GRCh37]
Chr1:1q23.2		 benign
NM_145167.3(PIGM):c.1095T>A (p.Phe365Leu) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001510279]|not provided [RCV001615173] Chr1:160030645 [GRCh38]
Chr1:160000435 [GRCh37]
Chr1:1q23.2		 benign
NM_145167.3(PIGM):c.867C>G (p.Ser289=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001455796] Chr1:160030873 [GRCh38]
Chr1:160000663 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.1150A>G (p.Asn384Asp) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001514593]|PIGM-related disorder [RCV003980526]|not provided [RCV001673088] Chr1:160030590 [GRCh38]
Chr1:160000380 [GRCh37]
Chr1:1q23.2		 benign
NM_145167.3(PIGM):c.180C>T (p.Arg60=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001516566]|not provided [RCV001581169] Chr1:160031560 [GRCh38]
Chr1:160001350 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_145167.3(PIGM):c.929_937del (p.Tyr310_Leu313delinsPhe) deletion See cases [RCV002253050] Chr1:160030803..160030811 [GRCh38]
Chr1:160000593..160000601 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.183C>T (p.Phe61=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002045396] Chr1:160031557 [GRCh38]
Chr1:160001347 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.230C>T (p.Thr77Ile) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001974040]|not specified [RCV004042359] Chr1:160031510 [GRCh38]
Chr1:160001300 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.404C>T (p.Pro135Leu) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001957918] Chr1:160031336 [GRCh38]
Chr1:160001126 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.292C>A (p.Leu98Ile) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001900969] Chr1:160031448 [GRCh38]
Chr1:160001238 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_158581054)_(162750036_?)dup duplication Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3		 uncertain significance|no classifications from unflagged records
NM_145167.3(PIGM):c.649G>A (p.Glu217Lys) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001922531] Chr1:160031091 [GRCh38]
Chr1:160000881 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1199A>G (p.Asn400Ser) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV001921565] Chr1:160030541 [GRCh38]
Chr1:160000331 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.696A>G (p.Ala232=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002171130] Chr1:160031044 [GRCh38]
Chr1:160000834 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.438G>A (p.Ala146=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002116902] Chr1:160031302 [GRCh38]
Chr1:160001092 [GRCh37]
Chr1:1q23.2		 likely benign
GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3 copy number gain not provided [RCV002474924] Chr1:159778364..160770515 [GRCh37]
Chr1:1q23.2-23.3		 uncertain significance
NM_145167.3(PIGM):c.1217A>C (p.Gln406Pro) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002303541] Chr1:160030523 [GRCh38]
Chr1:160000313 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.686T>C (p.Leu229Pro) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002305005] Chr1:160031054 [GRCh38]
Chr1:160000844 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.114C>G (p.Phe38Leu) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002754989] Chr1:160031626 [GRCh38]
Chr1:160001416 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.769A>G (p.Thr257Ala) single nucleotide variant not specified [RCV004116754] Chr1:160030971 [GRCh38]
Chr1:160000761 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.863T>C (p.Phe288Ser) single nucleotide variant not specified [RCV004198570] Chr1:160030877 [GRCh38]
Chr1:160000667 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.613C>T (p.Arg205Cys) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003076395] Chr1:160031127 [GRCh38]
Chr1:160000917 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.305G>A (p.Cys102Tyr) single nucleotide variant not specified [RCV004173050] Chr1:160031435 [GRCh38]
Chr1:160001225 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.130C>T (p.His44Tyr) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002995713] Chr1:160031610 [GRCh38]
Chr1:160001400 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.16C>G (p.His6Asp) single nucleotide variant not specified [RCV004148229] Chr1:160031724 [GRCh38]
Chr1:160001514 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.982A>T (p.Asn328Tyr) single nucleotide variant not specified [RCV004100139] Chr1:160030758 [GRCh38]
Chr1:160000548 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1093T>G (p.Phe365Val) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002590742] Chr1:160030647 [GRCh38]
Chr1:160000437 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.608G>A (p.Ser203Asn) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002780854] Chr1:160031132 [GRCh38]
Chr1:160000922 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.232C>T (p.Pro78Ser) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002948389] Chr1:160031508 [GRCh38]
Chr1:160001298 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1100G>T (p.Gly367Val) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002736024] Chr1:160030640 [GRCh38]
Chr1:160000430 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.148A>G (p.Ile50Val) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003085885] Chr1:160031592 [GRCh38]
Chr1:160001382 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.538A>G (p.Lys180Glu) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002766729] Chr1:160031202 [GRCh38]
Chr1:160000992 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.676G>T (p.Ala226Ser) single nucleotide variant not specified [RCV004113230] Chr1:160031064 [GRCh38]
Chr1:160000854 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.216C>A (p.Ala72=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002932451] Chr1:160031524 [GRCh38]
Chr1:160001314 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.364C>T (p.Arg122Cys) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002701161] Chr1:160031376 [GRCh38]
Chr1:160001166 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1193T>C (p.Leu398Pro) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003083654] Chr1:160030547 [GRCh38]
Chr1:160000337 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.518A>G (p.Tyr173Cys) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002957257]|not specified [RCV004654058] Chr1:160031222 [GRCh38]
Chr1:160001012 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1090T>C (p.Trp364Arg) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002962394]|not provided [RCV004593108] Chr1:160030650 [GRCh38]
Chr1:160000440 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.254C>G (p.Thr85Ser) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003088275] Chr1:160031486 [GRCh38]
Chr1:160001276 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.805C>T (p.His269Tyr) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003029041] Chr1:160030935 [GRCh38]
Chr1:160000725 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1042C>T (p.Pro348Ser) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002938434] Chr1:160030698 [GRCh38]
Chr1:160000488 [GRCh37]
Chr1:1q23.2		 benign
NM_145167.3(PIGM):c.189G>C (p.Thr63=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003063474] Chr1:160031551 [GRCh38]
Chr1:160001341 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.160G>C (p.Val54Leu) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV002654604] Chr1:160031580 [GRCh38]
Chr1:160001370 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1192C>G (p.Leu398Val) single nucleotide variant not specified [RCV004259752] Chr1:160030548 [GRCh38]
Chr1:160000338 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.686T>A (p.Leu229Gln) single nucleotide variant not specified [RCV004280564] Chr1:160031054 [GRCh38]
Chr1:160000844 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.38A>G (p.Asn13Ser) single nucleotide variant not specified [RCV004270414] Chr1:160031702 [GRCh38]
Chr1:160001492 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.827A>G (p.Tyr276Cys) single nucleotide variant not provided [RCV003323148] Chr1:160030913 [GRCh38]
Chr1:160000703 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.538A>T (p.Lys180Ter) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003333385] Chr1:160031202 [GRCh38]
Chr1:160000992 [GRCh37]
Chr1:1q23.2		 likely pathogenic
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3		 likely pathogenic
NM_145167.3(PIGM):c.959A>G (p.His320Arg) single nucleotide variant PIGM-related disorder [RCV003399490] Chr1:160030781 [GRCh38]
Chr1:160000571 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.102C>G (p.Phe34Leu) single nucleotide variant not provided [RCV003481542] Chr1:160031638 [GRCh38]
Chr1:160001428 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.962C>A (p.Thr321Lys) single nucleotide variant PIGM-related disorder [RCV003429095] Chr1:160030778 [GRCh38]
Chr1:160000568 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.756A>G (p.Glu252=) single nucleotide variant not provided [RCV003409185] Chr1:160030984 [GRCh38]
Chr1:160000774 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.422C>A (p.Ser141Tyr) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003601722] Chr1:160031318 [GRCh38]
Chr1:160001108 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.443C>G (p.Ser148Cys) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003601736] Chr1:160031297 [GRCh38]
Chr1:160001087 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.457C>G (p.Leu153Val) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003494939] Chr1:160031283 [GRCh38]
Chr1:160001073 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.95T>C (p.Leu32Pro) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003496670] Chr1:160031645 [GRCh38]
Chr1:160001435 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.605A>G (p.Lys202Arg) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003600163] Chr1:160031135 [GRCh38]
Chr1:160000925 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.303C>A (p.Ser101Arg) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003600228] Chr1:160031437 [GRCh38]
Chr1:160001227 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.454T>G (p.Ser152Ala) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003601254] Chr1:160031286 [GRCh38]
Chr1:160001076 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.8C>T (p.Ser3Phe) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003601915] Chr1:160031732 [GRCh38]
Chr1:160001522 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.836A>G (p.Tyr279Cys) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003600490] Chr1:160030904 [GRCh38]
Chr1:160000694 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.1143A>G (p.Gln381=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003601224] Chr1:160030597 [GRCh38]
Chr1:160000387 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.74C>A (p.Ala25Asp) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003496485] Chr1:160031666 [GRCh38]
Chr1:160001456 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.224G>A (p.Arg75His) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003494851] Chr1:160031516 [GRCh38]
Chr1:160001306 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.649G>C (p.Glu217Gln) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003496978]|not provided [RCV004593330] Chr1:160031091 [GRCh38]
Chr1:160000881 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.613C>A (p.Arg205Ser) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003497238] Chr1:160031127 [GRCh38]
Chr1:160000917 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.129G>A (p.Leu43=) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003824113] Chr1:160031611 [GRCh38]
Chr1:160001401 [GRCh37]
Chr1:1q23.2		 likely benign
NM_145167.3(PIGM):c.1269C>G (p.Asp423Glu) single nucleotide variant Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV003870806] Chr1:160030471 [GRCh38]
Chr1:160000261 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.248T>A (p.Leu83His) single nucleotide variant not specified [RCV004503726] Chr1:160031492 [GRCh38]
Chr1:160001282 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.215C>A (p.Ala72Asp) single nucleotide variant not specified [RCV004503725] Chr1:160031525 [GRCh38]
Chr1:160001315 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.611T>C (p.Leu204Pro) single nucleotide variant not specified [RCV004503727] Chr1:160031129 [GRCh38]
Chr1:160000919 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_160000258)_(160001799_?)del deletion Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV004584036] Chr1:160000258..160001799 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_145167.3(PIGM):c.401del (p.Asn134fs) deletion Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency [RCV004764841] Chr1:160031339 [GRCh38]
Chr1:160001129 [GRCh37]
Chr1:1q23.2		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR192hsa-miR-192-5pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:1100
Count of miRNA genes:642
Interacting mature miRNAs:745
Transcripts:ENST00000368090
Prediction methods:Miranda, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human

Markers in Region
RH68788  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371159,999,916 - 160,000,039UniSTSGRCh37
Build 361158,266,540 - 158,266,663RGDNCBI36
Celera1133,068,358 - 133,068,481RGD
Cytogenetic Map1q23.2UniSTS
HuRef1131,356,642 - 131,356,765UniSTS
GeneMap99-GB4 RH Map1576.12UniSTS
NCBI RH Map11436.5UniSTS
STS-Z40760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,000,025 - 160,000,083UniSTSGRCh37
GRCh372181,691,991 - 181,692,324UniSTSGRCh37
Build 361158,266,649 - 158,266,707RGDNCBI36
Celera1133,068,467 - 133,068,525RGD
Celera2175,286,272 - 175,286,605UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map2q31.3UniSTS
HuRef1131,356,751 - 131,356,809UniSTS
GeneMap99-GB4 RH Map1589.4UniSTS
RH68891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371159,997,626 - 159,997,756UniSTSGRCh37
Build 361158,264,250 - 158,264,380RGDNCBI36
Celera1133,066,067 - 133,066,197RGD
Cytogenetic Map1q23.2UniSTS
HuRef1131,354,350 - 131,354,480UniSTS
GeneMap99-GB4 RH Map1576.33UniSTS
NCBI RH Map11436.5UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
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Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2251 4972 1726 2351 6 624 1950 465 2269 7303 6469 53 3733 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000368090   ⟹   ENSP00000357069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,024,953 - 160,031,990 (-)Ensembl
RefSeq Acc Id: NM_145167   ⟹   NP_660150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,024,953 - 160,031,990 (-)NCBI
GRCh371159,997,462 - 160,001,783 (-)RGD
Build 361158,264,086 - 158,268,407 (-)NCBI Archive
Celera1133,065,903 - 133,070,225 (-)RGD
HuRef1131,354,186 - 131,358,509 (-)ENTREZGENE
CHM1_11161,392,783 - 161,397,106 (-)NCBI
T2T-CHM13v2.01159,162,027 - 159,169,067 (-)NCBI
Sequence:
RefSeq Acc Id: NP_660150   ⟸   NM_145167
- UniProtKB: Q9H3S5 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000357069   ⟸   ENST00000368090

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H3S5-F1-model_v2 AlphaFold Q9H3S5 1-423 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18858 AgrOrtholog
COSMIC PIGM COSMIC
Ensembl Genes ENSG00000143315 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000368090 ENTREZGENE
  ENST00000368090.5 UniProtKB/Swiss-Prot
GTEx ENSG00000143315 GTEx
HGNC ID HGNC:18858 ENTREZGENE
Human Proteome Map PIGM Human Proteome Map
InterPro PIG-M UniProtKB/Swiss-Prot
KEGG Report hsa:93183 UniProtKB/Swiss-Prot
NCBI Gene 93183 ENTREZGENE
OMIM 610273 OMIM
PANTHER GPI MANNOSYLTRANSFERASE 1 UniProtKB/Swiss-Prot
  PTHR12886 UniProtKB/Swiss-Prot
Pfam Mannosyl_trans UniProtKB/Swiss-Prot
PharmGKB PA38718 PharmGKB
UniProt PIGM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


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