SYNE1 Back

spectrin repeat containing, nuclear envelope 1

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NCBI Description of SYNE1
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described.

Community Annotation of SYNE1 Add / Edit SYNE1: Annotations

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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

SYNE1 is highly significantly mutated in
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SYNE1 is significantly mutated in
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SYNE1 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 SYNE1