This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for ATXN10. 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 = ATXN10 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 ATXN10, 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 |
|---|---|---|---|---|
| chr22:45,413,403–45,414,177 | 258.1 kb | Distal (>10kb) Multiome | 453 | |
| chr22:45,435,549–45,435,992 | 236.0 kb | Distal (>10kb) Multiome | 461 | |
| chr22:45,443,959–45,444,454 | 227.6 kb | Distal (>10kb) Multiome | 24 | |
| chr22:45,502,050–45,504,452 | 169.1 kb | Distal (>10kb) Multiome | 701 | |
| chr22:45,629,603–45,630,068 | 42.0 kb | Distal (>10kb) Multiome | 249 | |
| chr22:45,645,487–45,646,063 | 26.0 kb | Distal (>10kb) Multiome | 469 | |
| chr22:45,671,242–45,672,505 | 36 bp | At TSS Multiome | 734 | |
| chr22:45,849,833–45,850,431 | 178.2 kb | Distal (>10kb) Multiome HiCAR | 19 |
Genomic view of the ATXN10 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.