 |
PIGF |
Gene Facts External Data Attribution
- HGNC Symbol
- PIGF (HGNC:8962) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- phosphatidylinositol glycan anchor biosynthesis class F
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- PIG-F
- %HI
- 37.76(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.68(Read more about gnomAD pLI score)
- LOEUF
- 0.87(Read more about gnomAD LOEUF score)
- Cytoband
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:46808076-46844180 NCBI Ensembl UCSC GRCh38/hg38: chr2:46580937-46617041 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002643.4 ENST00000281382.11 (Read more about MANE Select)
- Function
- Involved in GPI-anchor biosynthesis (PubMed:33386993). It acts through the transfer of ethanolamine phosphate to the third mannose of GPI. {ECO:0000250, ECO:0000269|PubMed:33386993}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-11007
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
