ZMYND15 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ZMYND15 (HGNC:20997) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- zinc finger MYND-type containing 15
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- DKFZp434N127
- %HI
- 52.22(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.85(Read more about gnomAD LOEUF score)
- Cytoband
- 17p13.2
- Genomic Coordinates
-
GRCh37/hg19: chr17:4643128-4649414 NCBI Ensembl UCSC GRCh38/hg38: chr17:4739833-4746119 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001136046.3 ENST00000433935.6 (Read more about MANE Select)
- Function
- Acts as a transcriptional repressor through interaction with histone deacetylases (HDACs). May be important for spermiogenesis. {ECO:0000250|UniProtKB:Q8C0R7, ECO:0000303|PubMed:24431330}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-26026
ClinGen Curation ID:
CCID:008141
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- spermatogenic failure 14 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)