This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for SETX. 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 = SETX 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 SETX, 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 |
|---|---|---|---|---|
| chr9:132,079,578–132,080,009 | 275.1 kb | Distal (>10kb) Multiome | 537 | |
| chr9:132,239,978–132,242,316 | 113.7 kb | Distal (>10kb) Multiome | 555 | |
| chr9:132,259,091–132,259,539 | 95.6 kb | Distal (>10kb) Multiome | 443 | |
| chr9:132,354,395–132,355,656 | 124 bp | At TSS Multiome | 895 | |
| chr9:132,409,879–132,410,471 | 55.1 kb | Distal (>10kb) Multiome | 293 | |
| chr9:132,411,065–132,411,553 | 56.3 kb | Distal (>10kb) Multiome | 342 | |
| chr9:132,582,095–132,582,589 | 227.2 kb | Distal (>10kb) Multiome | 938 |
Genomic view of the SETX 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.