WWOX |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- WWOX (HGNC:12799) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- WW domain containing oxidoreductase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FOR, WOX1, SDR41C1
- %HI
- 0.38(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.53(Read more about gnomAD LOEUF score)
- Cytoband
- 16q23.1-q23.2
- Genomic Coordinates
-
GRCh37/hg19: chr16:78133551-79246564 NCBI Ensembl UCSC GRCh38/hg38: chr16:78099654-79212667 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016373.4 ENST00000566780.6 (Read more about MANE Select)
- Function
- Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm. {ECO:0000250, ECO:0000269|PubMed:11719429, ECO:0000269|PubMed:15... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-17644
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/08/2017
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- autosomal recessive spinocerebellar ataxia 12 Monarch
HI Evidence Comments:
Mutations and deletions (whole gene and exon-level) affecting both copies of WWOX are associated with autosomal recessive early infantile epileptic encephalopathy and autosomal recessive spinocerebellar ataxia 12. See Mignot et al., 2015 (PMID 25411445) for a discussion of genotype-phenotype associations in these recessive disorders.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Whole gene duplication of WWOX is not currently known to be associated with developmental phenotypes.
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)