• 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)