This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017]
Transcription factors with Perturb-seq knockdown data for RNASEH1. 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 = RNASEH1 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 RNASEH1, 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 |
|---|---|---|---|---|
| chr2:1,823,112–1,823,997 | 1734.9 kb | Distal (>10kb) Multiome HiCAR | 143 | |
| chr2:3,265,176–3,267,080 | 292.2 kb | Distal (>10kb) Multiome | 214 | |
| chr2:3,302,656–3,304,274 | 254.7 kb | Distal (>10kb) Multiome | 611 | |
| chr2:3,377,329–3,378,629 | 180.4 kb | Distal (>10kb) Multiome | 975 | |
| chr2:3,379,318–3,380,419 | 178.6 kb | Distal (>10kb) Multiome | 1029 | |
| chr2:3,482,920–3,483,746 | 74.9 kb | Distal (>10kb) Multiome | 137 | |
| chr2:3,518,104–3,520,209 | 39.1 kb | Distal (>10kb) Multiome | 1083 | |
| chr2:3,557,826–3,559,338 | 126 bp | At TSS Multiome | 1106 | |
| chr2:3,559,440–3,559,598 | 1.1 kb | Proximal (<10kb) | 83 | |
| chr2:3,574,766–3,576,282 | 16.9 kb | Distal (>10kb) Multiome | 1145 | |
| chr2:3,650,709–3,651,305 | 92.9 kb | Distal (>10kb) Multiome | 403 | |
| chr2:3,651,453–3,652,406 | 93.8 kb | Distal (>10kb) Multiome | 610 | |
| chr2:3,702,909–3,704,344 | 145.2 kb | Distal (>10kb) Multiome | 203 |
Genomic view of the RNASEH1 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.