SEPT1 Back

septin 1

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NCBI Description of SEPT1

This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. CCDS Note: The coding region has been updated to extend the N-terminus to one that is more supported by the available transcript and primate conservation data. There are no publicly available transcripts representing the full-length extent of this update; this exon combination is inferred based on tiled transcript alignments (e.g., BQ072902.1 and BC012161.1) to include an additional 5' exon with the updated start codon.

Community Annotation of SEPT1 Add / Edit SEPT1: Annotations

No community annotations yet for SEPT1.
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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

SEPT1 is highly significantly mutated in
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SEPT1 is significantly mutated in
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SEPT1 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 SEPT1