DDOST |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DDOST (HGNC:2728) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- OST, KIAA0115, OST48, WBP1
- %HI
- 29.71(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.73(Read more about gnomAD LOEUF score)
- Cytoband
- 1p36.12
- Genomic Coordinates
-
GRCh37/hg19: chr1:20978270-20987862 NCBI Ensembl UCSC GRCh38/hg38: chr1:20651777-20661369 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005216.5 ENST00000602624.7 (Read more about MANE Select)
- Function
- Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-29653
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:
- DDOST-congenital disorder of glycosylation Monarch
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)