This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for SETBP1. 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 = SETBP1 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 SETBP1, 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 |
|---|---|---|---|---|
| chr18:44,678,791–44,679,864 | 970 bp | At TSS Multiome | 618 | |
| chr18:44,679,993–44,681,240 | 558 bp | At TSS Multiome | 477 | |
| chr18:44,682,167–44,683,592 | 2.7 kb | Proximal (<10kb) Multiome | 293 | |
| chr18:44,685,115–44,685,751 | 4.2 kb | Proximal (<10kb) | 12 | |
| chr18:44,696,619–44,697,218 | at TSS | At TSS | 135 | |
| chr18:44,706,619–44,707,198 | 9.5 kb | Proximal (<10kb) | 85 | |
| chr18:44,744,016–44,745,124 | 64.3 kb | Distal (>10kb) Multiome | 179 | |
| chr18:44,886,794–44,888,178 | 207.3 kb | Distal (>10kb) Multiome HiCAR | 247 | |
| chr18:44,937,511–44,938,997 | 258.4 kb | Distal (>10kb) Multiome | 345 |
Genomic view of the SETBP1 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.