Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for ATXN3. 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 = ATXN3 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 ATXN3, 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 |
|---|---|---|---|---|
| chr14:91,835,675–91,837,066 | 270.0 kb | Distal (>10kb) Multiome | 412 | |
| chr14:91,947,236–91,948,135 | 158.9 kb | Distal (>10kb) Multiome | 316 | |
| chr14:92,039,326–92,040,502 | 66.5 kb | Distal (>10kb) Multiome | 937 | |
| chr14:92,105,904–92,107,104 | 47 bp | At TSS Multiome | 794 | |
| chr14:92,108,368–92,108,782 | 1.8 kb | Proximal (<10kb) | 154 | |
| chr14:92,121,241–92,122,514 | 15.3 kb | Distal (>10kb) Multiome | 838 | |
| chr14:92,322,882–92,323,968 | 216.9 kb | Distal (>10kb) Multiome | 231 |
Genomic view of the ATXN3 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.