External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of SETX

This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).

Community Annotation of SETX Add / Edit SETX: Annotations

No community annotations yet for SETX.
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).


SETX is highly significantly mutated in
SETX is significantly mutated in
SETX is near significance in

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

Data details

Mutation list for SETX