PGAP3
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PGAP3 (HGNC:23719) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
post-GPI attachment to proteins phospholipase 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PERLD1
Alias symbols
MGC9753, CAB2, PP1498, PER1
%HI
44.26(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.15(Read more about gnomAD LOEUF score)
Cytoband
17q12
Genomic Coordinates
GRCh37/hg19: chr17:37827375-37844310 NCBI Ensembl UCSC
GRCh38/hg38: chr17:39671122-39688057 NCBI Ensembl UCSC
MANE Select Transcript
NM_033419.5 ENST00000300658.9 (Read more about MANE Select)
Function
Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. {ECO:0000269|PubMed:29374258, ECO:0000305|PubMed:17021251}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-5219
ClinGen Curation ID:
CCID:007648
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:
  • hyperphosphatasia with intellectual disability syndrome 4 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)