Gene Facts External Data Attribution

HGNC Symbol
PRPS1 (HGNC:9462) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
phosphoribosyl pyrophosphate synthetase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFN2
Alias symbols
CMTX5, DFNX1, PRS-I, PPRibP
%HI
26.12(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.92(Read more about gnomAD pLI score)
LOEUF
0.38(Read more about gnomAD LOEUF score)
Cytoband
Xq22.3
Genomic Coordinates
GRCh37/hg19: chrX:106871740-106894256 NCBI Ensembl UCSC
GRCh38/hg38: chrX:107628510-107651026 NCBI Ensembl UCSC
MANE Select Transcript
NM_002764.4 ENST00000372435.10 (Read more about MANE Select)
Function
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. {ECO:0000269|PubMed:16939420, ECO:0000269|PubMed:17701900, ECO:0000269|PubMed:7593598}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24399
Curation Status:
Under Group Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)