DPM3
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DPM3 (HGNC:3007) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
MGC34275, MGC125904, MGC125905
%HI
53.99(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
1.37(Read more about gnomAD LOEUF score)
Cytoband
1q22
Genomic Coordinates
GRCh37/hg19: chr1:155112367-155113007 NCBI Ensembl UCSC
GRCh38/hg38: chr1:155139891-155140531 NCBI Ensembl UCSC
MANE Select Transcript
NM_153741.2 ENST00000368400.5 (Read more about MANE Select)
Function
Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum. {ECO:0000269|PubMed:10835346}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35329
ClinGen Curation ID:
CCID:007028
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/09/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • DPM3-congenital disorder of glycosylation Monarch
HI Evidence Comments:
Variants in DPM3 have been reported in association with congenital disorder of glycosylation type Io, an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)