This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]
Transcription factors with Perturb-seq knockdown data for AP5Z1. 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 = AP5Z1 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 AP5Z1, 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 |
|---|---|---|---|---|
| chr7:3,264,672–3,265,328 | 1510.7 kb | Distal (>10kb) Multiome HiCAR | 79 | |
| chr7:3,265,429–3,266,609 | 1509.6 kb | Distal (>10kb) Multiome HiCAR | 84 | |
| chr7:4,625,503–4,626,335 | 149.6 kb | Distal (>10kb) Multiome | 189 | |
| chr7:4,631,373–4,632,184 | 143.8 kb | Distal (>10kb) Multiome | 464 | |
| chr7:4,641,264–4,642,525 | 133.7 kb | Distal (>10kb) Multiome | 1072 | |
| chr7:4,681,869–4,682,504 | 93.4 kb | Distal (>10kb) Multiome | 517 | |
| chr7:4,700,808–4,701,595 | 74.4 kb | Distal (>10kb) Multiome | 166 | |
| chr7:4,707,922–4,708,359 | 67.5 kb | Distal (>10kb) Multiome | 107 | |
| chr7:4,744,414–4,745,493 | 30.4 kb | Distal (>10kb) Multiome | 673 | |
| chr7:4,775,021–4,775,903 | 76 bp | At TSS Multiome | 860 | |
| chr7:4,791,775–4,793,216 | 16.7 kb | Distal (>10kb) Multiome | 359 | |
| chr7:4,798,157–4,798,757 | 22.7 kb | Distal (>10kb) Multiome | 349 | |
| chr7:4,845,690–4,846,237 | 70.3 kb | Distal (>10kb) Multiome | 165 | |
| chr7:4,882,152–4,884,513 | 108.1 kb | Distal (>10kb) Multiome | 585 | |
| chr7:4,973,785–4,974,732 | 198.5 kb | Distal (>10kb) Multiome | 674 | |
| chr7:5,045,501–5,046,448 | 270.2 kb | Distal (>10kb) Multiome | 594 |
Genomic view of the AP5Z1 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.