This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
Transcription factors with Perturb-seq knockdown data for ERCC5. 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 = ERCC5 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 ERCC5, 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 |
|---|---|---|---|---|
| chr13:102,591,759–102,592,780 | 253.6 kb | Distal (>10kb) Multiome HiCAR | 578 | |
| chr13:102,596,004–102,597,912 | 249.0 kb | Distal (>10kb) Multiome HiCAR | 918 | |
| chr13:102,772,804–102,774,609 | 72.0 kb | Distal (>10kb) Multiome | 683 | |
| chr13:102,798,454–102,800,933 | 45.4 kb | Distal (>10kb) Multiome | 954 | |
| chr13:102,845,306–102,846,942 | 36 bp | At TSS Multiome | 1003 | |
| chr13:102,847,414–102,847,535 | 1.6 kb | Proximal (<10kb) | 52 | |
| chr13:102,847,653–102,847,825 | 1.8 kb | Proximal (<10kb) | 134 | |
| chr13:103,039,032–103,039,885 | 193.6 kb | Distal (>10kb) Multiome | 153 | |
| chr13:103,067,554–103,069,132 | 222.6 kb | Distal (>10kb) Multiome | 223 |
Genomic view of the ERCC5 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.