ERCC6 Back

excision repair cross-complementing rodent repair deficiency, complementation group 6

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of ERCC6
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Community Annotation of ERCC6 Add / Edit ERCC6: Annotations

No community annotations yet for ERCC6.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

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

ERCC6 is highly significantly mutated in
(none)
ERCC6 is significantly mutated in
(none)
ERCC6 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ERCC6