This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for APAF1. 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 = APAF1 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 APAF1, 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 |
|---|---|---|---|---|
| chr12:98,344,774–98,345,967 | 299.7 kb | Distal (>10kb) Multiome | 190 | |
| chr12:98,397,273–98,398,042 | 247.5 kb | Distal (>10kb) Multiome | 455 | |
| chr12:98,456,620–98,457,422 | 188.1 kb | Distal (>10kb) Multiome | 319 | |
| chr12:98,490,969–98,491,482 | 154.0 kb | Distal (>10kb) Multiome | 594 | |
| chr12:98,492,249–98,493,469 | 152.2 kb | Distal (>10kb) Multiome | 235 | |
| chr12:98,502,866–98,504,417 | 141.4 kb | Distal (>10kb) Multiome | 1073 | |
| chr12:98,515,010–98,516,657 | 129.6 kb | Distal (>10kb) Multiome | 999 | |
| chr12:98,593,166–98,594,492 | 51.5 kb | Distal (>10kb) Multiome HiCAR | 874 | |
| chr12:98,644,115–98,645,908 | 103 bp | At TSS Multiome | 906 | |
| chr12:98,696,171–98,696,840 | 51.4 kb | Distal (>10kb) Multiome | 204 | |
| chr12:98,735,936–98,737,224 | 91.8 kb | Distal (>10kb) Multiome | 226 | |
| chr12:98,894,427–98,895,740 | 249.9 kb | Distal (>10kb) Multiome | 362 | |
| chr12:98,938,452–98,939,645 | 293.8 kb | Distal (>10kb) Multiome | 108 |
Genomic view of the APAF1 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.