• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PNP (HGNC:7892) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
purine nucleoside phosphorylase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
NP
Alias symbols
PUNP
%HI
47.87(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
14q11.2
Genomic Coordinates
GRCh37/hg19: chr14:20937565-20945248 NCBI Ensembl UCSC
GRCh38/hg38: chr14:20469406-20477089 NCBI Ensembl UCSC
MANE Select Transcript
NM_000270.4 ENST00000361505.10 (Read more about MANE Select)
Function
Catalyzes the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate (PubMed:9305964, PubMed:23438750). Preferentially acts on 6-oxopurine nucleosides including inosine and guanosine (PubMed:9305964). {ECO:0000269|PubMed:23438750, ECO:0000269|PubMed:9305964}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25230
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:
  • purine nucleoside phosphorylase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)