OTOF Back

otoferlin

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of OTOF
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene.

Community Annotation of OTOF Add / Edit OTOF: Annotations

No community annotations yet for OTOF.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

OTOF is highly significantly mutated in
(none)
OTOF is significantly mutated in
(none)
OTOF is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for OTOF