This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
Transcription factors with Perturb-seq knockdown data for TSEN2. 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 = TSEN2 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 TSEN2, 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 |
|---|---|---|---|---|
| chr3:12,287,512–12,289,112 | 196.6 kb | Distal (>10kb) Multiome | 592 | |
| chr3:12,444,448–12,445,657 | 39.6 kb | Distal (>10kb) Multiome | 551 | |
| chr3:12,479,935–12,480,385 | 4.1 kb | Proximal (<10kb) | 275 | |
| chr3:12,483,888–12,485,008 | 43 bp | At TSS Multiome | 832 | |
| chr3:12,556,440–12,557,557 | 72.6 kb | Distal (>10kb) Multiome | 1025 | |
| chr3:12,662,566–12,663,343 | 178.3 kb | Distal (>10kb) Multiome | 320 | |
| chr3:12,663,393–12,664,764 | 179.7 kb | Distal (>10kb) Multiome | 941 | |
| chr3:12,768,768–12,769,541 | 284.5 kb | Distal (>10kb) Multiome | 69 |
Genomic view of the TSEN2 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.