BLOC1S2 Back

biogenesis of lysosome-related organelles complex-1, subunit 2

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NCBI Description of BLOC1S2
This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants.

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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

BLOC1S2 is highly significantly mutated in
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BLOC1S2 is significantly mutated in
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BLOC1S2 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 BLOC1S2