The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for TOR1A. 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 = TOR1A 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 TOR1A, 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 |
|---|---|---|---|---|
| chr9:129,557,196–129,557,935 | 266.6 kb | Distal (>10kb) Multiome | 718 | |
| chr9:129,596,686–129,597,656 | 227.1 kb | Distal (>10kb) Multiome | 700 | |
| chr9:129,610,548–129,611,334 | 213.2 kb | Distal (>10kb) Multiome | 630 | |
| chr9:129,626,055–129,626,580 | 197.9 kb | Distal (>10kb) Multiome | 825 | |
| chr9:129,641,895–129,642,673 | 181.8 kb | Distal (>10kb) Multiome | 919 | |
| chr9:129,802,988–129,803,555 | 21.0 kb | Distal (>10kb) Multiome | 727 | |
| chr9:129,823,965–129,824,380 | at TSS | At TSS | 873 | |
| chr9:129,835,192–129,835,687 | 11.3 kb | Distal (>10kb) Multiome | 701 | |
| chr9:130,042,478–130,043,723 | 219.1 kb | Distal (>10kb) Multiome | 793 |
Genomic view of the TOR1A 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.