The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Transcription factors with Perturb-seq knockdown data for UVSSA. 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 = UVSSA 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 UVSSA, 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 |
|---|---|---|---|---|
| chr4:1,113,486–1,113,937 | 233.6 kb | Distal (>10kb) Multiome | 183 | |
| chr4:1,167,206–1,167,987 | 179.7 kb | Distal (>10kb) Multiome | 553 | |
| chr4:1,247,634–1,250,121 | 98.3 kb | Distal (>10kb) Multiome | 835 | |
| chr4:1,289,220–1,290,349 | 57.5 kb | Distal (>10kb) Multiome | 769 | |
| chr4:1,309,299–1,309,921 | 37.7 kb | Distal (>10kb) Multiome | 461 | |
| chr4:1,345,929–1,347,890 | 201 bp | At TSS Multiome | 864 | |
| chr4:1,351,902–1,352,143 | 4.6 kb | Proximal (<10kb) | 336 | |
| chr4:1,512,763–1,513,500 | 166.0 kb | Distal (>10kb) Multiome | 317 | |
| chr4:1,578,390–1,579,916 | 232.0 kb | Distal (>10kb) Multiome | 472 | |
| chr4:1,580,022–1,580,836 | 233.4 kb | Distal (>10kb) Multiome | 412 |
Genomic view of the UVSSA 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.