This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for PES1. 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 = PES1 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 PES1, 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 |
|---|---|---|---|---|
| chr22:30,326,296–30,327,463 | 264.9 kb | Distal (>10kb) Multiome | 565 | |
| chr22:30,356,495–30,357,510 | 235.0 kb | Distal (>10kb) Multiome | 824 | |
| chr22:30,386,775–30,387,972 | 204.5 kb | Distal (>10kb) Multiome | 499 | |
| chr22:30,392,372–30,393,155 | 199.0 kb | Distal (>10kb) Multiome | 209 | |
| chr22:30,396,849–30,397,353 | 194.9 kb | Distal (>10kb) Multiome | 385 | |
| chr22:30,422,945–30,424,825 | 167.8 kb | Distal (>10kb) Multiome | 1038 | |
| chr22:30,425,449–30,426,228 | 166.1 kb | Distal (>10kb) Multiome | 617 | |
| chr22:30,426,363–30,426,817 | 165.1 kb | Distal (>10kb) Multiome | 374 | |
| chr22:30,574,045–30,575,001 | 17.2 kb | Distal (>10kb) Multiome | 283 | |
| chr22:30,591,677–30,592,568 | 245 bp | At TSS Multiome | 698 | |
| chr22:30,606,243–30,607,508 | 15.0 kb | Distal (>10kb) Multiome | 507 | |
| chr22:30,634,485–30,636,231 | 43.8 kb | Distal (>10kb) Multiome | 611 | |
| chr22:30,667,348–30,668,634 | 76.0 kb | Distal (>10kb) Multiome | 590 | |
| chr22:30,694,739–30,695,381 | 102.9 kb | Distal (>10kb) Multiome | 278 | |
| chr22:30,802,592–30,803,363 | 211.0 kb | Distal (>10kb) Multiome | 898 |
Genomic view of the PES1 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.