ANKS1B Back

ankyrin repeat and sterile alpha motif domain containing 1B

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NCBI Description of ANKS1B
This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described 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

ANKS1B is highly significantly mutated in
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ANKS1B is significantly mutated in
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ANKS1B 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 ANKS1B