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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)