SPG11 Back

spastic paraplegia 11 (autosomal recessive)

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NCBI Description of SPG11
The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of SPG11 Add / Edit SPG11: Annotations

No community annotations yet for SPG11.
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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

SPG11 is highly significantly mutated in
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SPG11 is significantly mutated in
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SPG11 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SPG11