The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for RB1. 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 = RB1 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 RB1, 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 |
|---|---|---|---|---|
| chr13:48,037,295–48,039,275 | 265.9 kb | Distal (>10kb) Multiome | 1096 | |
| chr13:48,094,468–48,095,500 | 208.6 kb | Distal (>10kb) Multiome | 866 | |
| chr13:48,232,588–48,234,160 | 70.6 kb | Distal (>10kb) Multiome | 750 | |
| chr13:48,303,216–48,304,354 | 15 bp | At TSS Multiome | 827 | |
| chr13:48,531,782–48,533,660 | 229.1 kb | Distal (>10kb) Multiome | 884 |
Genomic view of the RB1 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.