Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for HAP1. 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 = HAP1 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 HAP1, 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 |
|---|---|---|---|---|
| chr17:41,527,111–41,529,407 | 206.2 kb | Distal (>10kb) Multiome | 635 | |
| chr17:41,548,740–41,549,518 | 185.5 kb | Distal (>10kb) Multiome | 698 | |
| chr17:41,579,549–41,580,064 | 154.9 kb | Distal (>10kb) Multiome | 335 | |
| chr17:41,647,765–41,648,495 | 86.5 kb | Distal (>10kb) Multiome | 519 | |
| chr17:41,665,564–41,667,291 | 68.7 kb | Distal (>10kb) Multiome | 883 | |
| chr17:41,688,103–41,690,064 | 45.3 kb | Distal (>10kb) Multiome | 1236 | |
| chr17:41,733,761–41,735,187 | 97 bp | At TSS Multiome | 577 | |
| chr17:41,738,054–41,738,690 | 3.6 kb | Proximal (<10kb) Multiome | 596 | |
| chr17:41,784,980–41,787,229 | 52.2 kb | Distal (>10kb) Multiome | 958 | |
| chr17:41,793,527–41,794,326 | 59.3 kb | Distal (>10kb) Multiome | 597 | |
| chr17:41,800,647–41,802,040 | 66.3 kb | Distal (>10kb) Multiome | 766 | |
| chr17:41,811,252–41,813,275 | 78.2 kb | Distal (>10kb) Multiome HiCAR | 997 | |
| chr17:41,835,756–41,836,400 | 101.5 kb | Distal (>10kb) Multiome | 568 | |
| chr17:41,864,608–41,865,695 | 130.8 kb | Distal (>10kb) Multiome | 913 | |
| chr17:41,918,026–41,919,794 | 184.6 kb | Distal (>10kb) Multiome | 956 | |
| chr17:41,930,220–41,930,908 | 195.9 kb | Distal (>10kb) Multiome | 915 | |
| chr17:41,965,771–41,967,327 | 231.3 kb | Distal (>10kb) Multiome | 920 | |
| chr17:42,016,953–42,018,102 | 282.8 kb | Distal (>10kb) Multiome | 991 | |
| chr17:42,019,726–42,020,334 | 285.4 kb | Distal (>10kb) Multiome | 791 |
Genomic view of the HAP1 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.