PRPS1 |
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)