This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
Transcription factors with Perturb-seq knockdown data for BBS10. 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 = BBS10 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 BBS10, 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 |
|---|---|---|---|---|
| chr12:75,329,660–75,330,647 | 1018.2 kb | Distal (>10kb) Multiome HiCAR | 840 | |
| chr12:75,333,989–75,335,193 | 1013.8 kb | Distal (>10kb) Multiome HiCAR | 460 | |
| chr12:75,511,106–75,512,100 | 836.7 kb | Distal (>10kb) Multiome HiCAR | 945 | |
| chr12:76,029,985–76,033,119 | 316.8 kb | Distal (>10kb) Multiome HiCAR | 1086 | |
| chr12:76,083,403–76,085,384 | 263.6 kb | Distal (>10kb) Multiome HiCAR | 931 | |
| chr12:76,347,962–76,348,990 | 18 bp | At TSS Multiome | 838 | |
| chr12:76,371,854–76,372,495 | 23.8 kb | Distal (>10kb) Multiome | 65 | |
| chr12:76,384,502–76,385,032 | 36.3 kb | Distal (>10kb) Multiome | 65 | |
| chr12:76,558,693–76,560,264 | 211.4 kb | Distal (>10kb) Multiome | 1006 |
Genomic view of the BBS10 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.