BPHL
  • 40
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BPHL (HGNC:1094) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
biphenyl hydrolase like
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MCNAA
Alias symbols
Bph-rp, VACVase
%HI
69.92(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.26(Read more about gnomAD LOEUF score)
Cytoband
6p25.2
Genomic Coordinates
GRCh37/hg19: chr6:3118610-3153812 NCBI Ensembl UCSC
GRCh38/hg38: chr6:3118376-3153578 NCBI Ensembl UCSC
MANE Select Transcript
NM_004332.4 ENST00000380379.10 (Read more about MANE Select)
Function
Serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir. Activates valacyclovir to acyclovir. May play a role in detoxification processes. It is a specific alpha-amino acid ester hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol. {ECO:0000269|PubMed:18256025}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24030
ClinGen Curation ID:
CCID:006754
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/02/2021

Haploinsufficiency (HI) Score Details

HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
HI Evidence:
  • PUBMED: 32487729
    Rausell et al. (2020) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present in >1% of the gnomAD population. An example of a homozygous LoF variant in this gene in gnomAD include c.378+2T>C (239 homozygous individuals).
  • PUBMED: 22344438
    MacArthur et al. (2012) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present at >5% of the 1000 Genomes Project database.
  • PUBMED: 28406212
    Saleheen et al. (2017) identified one adult individual in a Pakistani population with a homozygous LoF variant in this gene. The individuals were originally recruited for a study evaluating risk of myocardial infarction. Individuals within that study found to have homozygous predicted LOF variants were phenotyped for “more than 200 biochemical and disease traits”.
  • PUBMED: 32461654
    Karczewski et al. (2020) identified 443,769 high confidence loss of function variants in the Genome Aggregation Database (gnomAD) population including this variant (c.378+2T>C). Several methods were used to identify these genes including manual curation and utilizing LOEUF scores.
HI Evidence Comments:
This gene was classified as dosage sensitivity unlikely on 2/2/2021 based on review of population data as described in the PMIDs above. These genes all have at least one curated homozygous loss of function variant in 1% or greater of the gnomAD population dataset and some have also been observed in additional population datasets. As of January 2021, there are no disease associations found in OMIM, and no reports suggesting a Mendelian disease association in the literature. The gnomAD pLI score is 0 and the LOEUF score is 1.35 predicting that this gene is tolerant of LoF variation.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)