PIGO |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PIGO (HGNC:23215) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- phosphatidylinositol glycan anchor biosynthesis class O
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- DKFZp434M222, FLJ00135, PIG-O
- %HI
- 35.9(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.81(Read more about gnomAD LOEUF score)
- Cytoband
- 9p13.3
- Genomic Coordinates
-
GRCh37/hg19: chr9:35088685-35096588 NCBI Ensembl UCSC GRCh38/hg38: chr9:35088688-35096591 NCBI Ensembl UCSC - MANE Select Transcript
- NM_032634.4 ENST00000378617.4 (Read more about MANE Select)
- Function
- Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI- anchor to the C-terminus of the proteins by an amide bond. {ECO:0000269|PubMed:24049131, ECO:0000269|PubMed:28337824}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-21402
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:
- hyperphosphatasia with intellectual disability syndrome 2 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)