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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:609413 Ensembl IDEnsembl:ENSG00000225830 HGNC IDHGNC:HGNC:3438 PHARMGKB IDPA27852 Map Location10q11.23 | |||||
GO terms in ERCC6
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 |
Gene expression in normal tissue: ERCC6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ERCC6
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ERCC6
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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