DPAGT1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DPAGT1 (HGNC:2995) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DPAGT2, DPAGT
Alias symbols
GPT, D11S366, DGPT, ALG7, CDG-Ij
%HI
14.87(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.84(Read more about gnomAD LOEUF score)
Cytoband
11q23.3
Genomic Coordinates
GRCh37/hg19: chr11:118967220-118972563 NCBI Ensembl UCSC
GRCh38/hg38: chr11:119093874-119101853 NCBI Ensembl UCSC
MANE Select Transcript
NM_001382.4 ENST00000354202.9 (Read more about MANE Select)
Function
Catalyzes the initial step of dolichol-linked oligosaccharide biosynthesis in N-linked protein glycosylation pathway: transfers GlcNAc-1-P from UDP-GlcNAc onto the carrier lipid dolichyl phosphate (P-dolichol), yielding GlcNAc-P-P-dolichol. {ECO:0000269|PubMed:29459785, ECO:0000269|PubMed:30388443, ECO:0000269|PubMed:9451016}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22815
ClinGen Curation ID:
CCID:007026
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:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital disorder of glycosylation Monarch
HI Evidence Comments:
Biallelic variants in the DPAGT1 gene have been associated with the diseases Congenital disorder of glycosylation, type Ij and Myasthenic syndrome, congenital, 13, with tubular aggregates in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, congenital disorder of glycosylation MONDO:0015286, has been selected for this curation.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)