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]
Transcription factors with Perturb-seq knockdown data for ERCC6. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = ERCC6 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of ERCC6, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr10:49,397,208–49,398,611 | 140.9 kb | Distal (>10kb) Multiome | 405 | |
| chr10:49,538,349–49,539,948 | 60 bp | At TSS Multiome | 896 | |
| chr10:49,609,325–49,610,869 | 70.5 kb | Distal (>10kb) Multiome | 222 | |
| chr10:49,679,268–49,679,978 | 140.5 kb | Distal (>10kb) Multiome | 295 | |
| chr10:49,689,972–49,690,461 | 151.2 kb | Distal (>10kb) Multiome | 90 | |
| chr10:49,761,560–49,762,540 | 223.2 kb | Distal (>10kb) Multiome | 910 | |
| chr10:49,767,863–49,769,213 | 229.6 kb | Distal (>10kb) Multiome | 132 |
Genomic view of the ERCC6 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.