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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Transcription factors with Perturb-seq knockdown data for ERCC8. 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 = ERCC8 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 ERCC8, 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 |
|---|---|---|---|---|
| chr5:60,699,432–60,700,719 | 245.0 kb | Distal (>10kb) Multiome HiCAR | 1005 | |
| chr5:60,797,358–60,798,212 | 147.2 kb | Distal (>10kb) Multiome | 104 | |
| chr5:60,842,894–60,844,886 | 100.8 kb | Distal (>10kb) Multiome | 755 | |
| chr5:60,854,444–60,855,160 | 90.3 kb | Distal (>10kb) Multiome | 164 | |
| chr5:60,944,760–60,946,207 | 137 bp | At TSS Multiome | 759 | |
| chr5:61,161,875–61,163,757 | 217.4 kb | Distal (>10kb) Multiome | 985 | |
| chr5:61,168,830–61,169,511 | 224.1 kb | Distal (>10kb) Multiome | 120 |
Genomic view of the ERCC8 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.