GNPAT
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GNPAT (HGNC:4416) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
glyceronephosphate O-acyltransferase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
DHAPAT, DAPAT, DAP-AT
%HI
57.89(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.88(Read more about gnomAD pLI score)
LOEUF
0.57(Read more about gnomAD LOEUF score)
Cytoband
1q42.2
Genomic Coordinates
GRCh37/hg19: chr1:231376958-231413719 NCBI Ensembl UCSC
GRCh38/hg38: chr1:231241212-231277973 NCBI Ensembl UCSC
MANE Select Transcript
NM_014236.4 ENST00000366647.9 (Read more about MANE Select)
Function
Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attached through a vinyl ether linkage at the sn-1 position of the glycerol backbone, and which unique physical properties have an impact on various aspects of cell signaling and membrane biology. {ECO:0000269|PubMed:11152660, ECO:0000269|PubMed:15687349}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26703
ClinGen Curation ID:
CCID:007229
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
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:
  • rhizomelic chondrodysplasia punctata type 2 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

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