This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ASCL1. 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 = ASCL1 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 ASCL1, 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 |
|---|---|---|---|---|
| chr12:102,948,924–102,949,323 | 8.3 kb | Proximal (<10kb) | 158 | |
| chr12:102,950,245–102,951,368 | 6.3 kb | Proximal (<10kb) | 424 | |
| chr12:102,955,993–102,956,839 | 833 bp | At TSS | 183 | |
| chr12:102,956,971–102,959,027 | at TSS | At TSS | 373 | |
| chr12:102,961,934–102,962,347 | 4.3 kb | Proximal (<10kb) | 133 | |
| chr12:102,962,672–102,963,973 | 5.0 kb | Proximal (<10kb) | 173 | |
| chr12:102,964,735–102,965,905 | 7.1 kb | Proximal (<10kb) | 293 |
Genomic view of the ASCL1 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.