ERCC6


Summary: 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. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016].

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Ensembl ID
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GO terms in ERCC6


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IDA GO:0005634 nucleus
CC IEA GO:0005634 nucleus
CC IDA GO:0005654 nucleoplasm
CC TAS GO:0005654 nucleoplasm
CC IDA GO:0005730 nucleolus
CC IDA GO:0008023 transcription elongation factor complex
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Gene expression in normal tissue: ERCC6

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined25Chromatin histone acetylation1Mitosis1Cell cycle1Proteasome1Longevity regulating pathway1IGFR signaling1DNA replication1

Pathways in ERCC6


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Database
Pathway ID
Pathway Des.
kegg hsa03420 Nucleotide excision repair - Homo sapiens (human)
reactome R-HSA-212165 Epigenetic regulation of gene expression
reactome R-HSA-212165 Epigenetic regulation of gene expression
reactome R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
reactome R-HSA-5250913 Positive epigenetic regulation of rRNA expression
reactome R-HSA-5250913 Positive epigenetic regulation of rRNA expression
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD420 Leucascandrolide A 2
iGMDRD554 CHEMBL1434137 3
iGMDRD781 Sirolimus 4
iGMDRD483 SCH-529074 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ERCC6

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Model
Level
Reference ID
Tissue
Cancer
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Clinical Response
Source
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