This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
Transcription factors with Perturb-seq knockdown data for BBS7. 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 = BBS7 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 BBS7, 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 |
|---|---|---|---|---|
| chr4:121,696,158–121,697,590 | 173.5 kb | Distal (>10kb) Multiome | 831 | |
| chr4:121,711,374–121,712,252 | 158.7 kb | Distal (>10kb) Multiome | 592 | |
| chr4:121,749,014–121,749,684 | 121.1 kb | Distal (>10kb) Multiome | 138 | |
| chr4:121,764,589–121,765,761 | 105.4 kb | Distal (>10kb) Multiome | 279 | |
| chr4:121,800,778–121,801,755 | 69.1 kb | Distal (>10kb) Multiome | 866 | |
| chr4:121,822,774–121,824,390 | 46.5 kb | Distal (>10kb) Multiome | 880 | |
| chr4:121,869,547–121,871,130 | 19 bp | At TSS Multiome | 687 | |
| chr4:121,900,129–121,900,683 | 30.0 kb | Distal (>10kb) Multiome | 142 | |
| chr4:121,950,003–121,952,427 | 79.9 kb | Distal (>10kb) Multiome | 598 | |
| chr4:122,151,572–122,153,122 | 281.9 kb | Distal (>10kb) Multiome | 773 |
Genomic view of the BBS7 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.