BPY2 |
- 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
ClinGen Curation ID:
CCID:006757
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)