ERCC8 Back

excision repair cross-complementing rodent repair deficiency, complementation group 8

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NCBI Description of ERCC8

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes.

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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

ERCC8 is highly significantly mutated in
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ERCC8 is significantly mutated in
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ERCC8 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 ERCC8