This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]
Transcription factors with Perturb-seq knockdown data for BBS9. 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 = BBS9 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 BBS9, 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 |
|---|---|---|---|---|
| chr7:32,891,014–32,892,877 | 237.5 kb | Distal (>10kb) Multiome | 975 | |
| chr7:32,905,220–32,906,208 | 223.9 kb | Distal (>10kb) Multiome | 394 | |
| chr7:32,942,280–32,943,451 | 186.5 kb | Distal (>10kb) Multiome | 800 | |
| chr7:32,956,900–32,958,942 | 172.0 kb | Distal (>10kb) Multiome | 933 | |
| chr7:33,062,109–33,063,556 | 66.6 kb | Distal (>10kb) Multiome | 912 | |
| chr7:33,108,633–33,110,110 | 20.0 kb | Distal (>10kb) Multiome | 702 | |
| chr7:33,128,895–33,130,093 | 141 bp | At TSS Multiome | 726 | |
| chr7:33,351,729–33,352,113 | at TSS | At TSS | 45 |
Genomic view of the BBS9 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.