Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]
Transcription factors with Perturb-seq knockdown data for ATN1. 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 = ATN1 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 ATN1, 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 |
|---|---|---|---|---|
| chr12:6,662,802–6,663,663 | 274.5 kb | Distal (>10kb) Multiome | 868 | |
| chr12:6,688,517–6,690,027 | 248.2 kb | Distal (>10kb) Multiome | 943 | |
| chr12:6,699,959–6,700,887 | 237.2 kb | Distal (>10kb) Multiome | 263 | |
| chr12:6,723,658–6,724,773 | 213.6 kb | Distal (>10kb) Multiome | 1065 | |
| chr12:6,752,554–6,754,332 | 184.2 kb | Distal (>10kb) Multiome | 975 | |
| chr12:6,763,677–6,764,983 | 173.3 kb | Distal (>10kb) Multiome | 570 | |
| chr12:6,765,172–6,767,791 | 171.4 kb | Distal (>10kb) Multiome | 824 | |
| chr12:6,768,329–6,769,331 | 168.6 kb | Distal (>10kb) Multiome | 249 | |
| chr12:6,778,736–6,779,459 | 158.6 kb | Distal (>10kb) Multiome | 777 | |
| chr12:6,821,268–6,822,155 | 116.0 kb | Distal (>10kb) Multiome | 299 | |
| chr12:6,825,458–6,825,915 | 112.0 kb | Distal (>10kb) Multiome | 404 | |
| chr12:6,828,101–6,829,966 | 108.1 kb | Distal (>10kb) Multiome | 689 | |
| chr12:6,851,017–6,853,279 | 85.4 kb | Distal (>10kb) Multiome | 966 | |
| chr12:6,866,801–6,870,175 | 70.2 kb | Distal (>10kb) Multiome | 887 | |
| chr12:6,871,062–6,874,199 | 65.3 kb | Distal (>10kb) Multiome HiCAR | 947 | |
| chr12:6,890,735–6,891,820 | 46.5 kb | Distal (>10kb) Multiome | 908 | |
| chr12:6,904,217–6,905,282 | 32.9 kb | Distal (>10kb) Multiome | 566 | |
| chr12:6,914,274–6,914,898 | 23.2 kb | Distal (>10kb) Multiome HiCAR | 536 | |
| chr12:6,915,493–6,915,858 | 8.6 kb | Proximal (<10kb) | 128 | |
| chr12:6,924,156–6,924,592 | 13.2 kb | Distal (>10kb) Multiome HiCAR | 458 | |
| chr12:6,925,828–6,926,431 | 11.7 kb | Distal (>10kb) Multiome HiCAR | 407 | |
| chr12:6,927,411–6,928,051 | 9.9 kb | Proximal (<10kb) Multiome HiCAR | 493 | |
| chr12:6,936,709–6,938,342 | 340 bp | At TSS Multiome | 1008 | |
| chr12:6,942,356–6,945,492 | 6.5 kb | Proximal (<10kb) Multiome HiCAR | 1205 | |
| chr12:6,945,587–6,947,099 | 8.8 kb | Proximal (<10kb) Multiome HiCAR | 618 | |
| chr12:6,961,769–6,963,542 | 25.5 kb | Distal (>10kb) Multiome | 682 | |
| chr12:6,964,932–6,965,569 | 27.5 kb | Distal (>10kb) Multiome | 549 | |
| chr12:6,970,111–6,971,189 | 33.1 kb | Distal (>10kb) Multiome | 899 | |
| chr12:7,018,028–7,019,126 | 81.0 kb | Distal (>10kb) Multiome | 824 | |
| chr12:7,108,059–7,109,582 | 171.6 kb | Distal (>10kb) Multiome | 818 | |
| chr12:7,129,788–7,131,412 | 192.6 kb | Distal (>10kb) Multiome | 619 | |
| chr12:7,188,394–7,190,508 | 250.8 kb | Distal (>10kb) Multiome | 769 |
Genomic view of the ATN1 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.