SETBP1 Back

SET binding protein 1

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NCBI Description of SETBP1
This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.

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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

SETBP1 is highly significantly mutated in
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SETBP1 is significantly mutated in
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SETBP1 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 SETBP1