• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BPY2 (HGNC:13508) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
basic charge Y-linked 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
VCY2
Alias symbols
BPY2A, VCY2A
%HI
94.47(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
Cytoband
Yq11.223
Genomic Coordinates
GRCh37/hg19: chrY:25130410-25151612 NCBI Ensembl UCSC
GRCh38/hg38: chrY:22984263-23005465 NCBI Ensembl UCSC
MANE Select Transcript
NM_004678.3 ENST00000331070.8 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12768
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
BPY2 (VCY2) is located within the AZFc region, a region that is associated with abnormal spermatogenesis when deleted (PMIDs: 16491273, 18043844). However, focal deletions of BPY2 alone have not been reported. A paper by Lin et al. (2002, PMID: 12009341) reports 180 men with abnormal spermatogenesis who had deletions in one of the three AZF regions and none of these men had a focal deletion of BPY2 alone. This phenotype would not be an appropriate indication for chromosome microarray.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000024.9) (NC_000024.10)