This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Transcription factors with Perturb-seq knockdown data for BBIP1. 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 = BBIP1 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 BBIP1, 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 |
|---|---|---|---|---|
| chr10:110,643,641–110,644,831 | 274.9 kb | Distal (>10kb) Multiome | 427 | |
| chr10:110,671,928–110,672,573 | 246.9 kb | Distal (>10kb) Multiome | 567 | |
| chr10:110,701,236–110,702,762 | 217.2 kb | Distal (>10kb) Multiome | 253 | |
| chr10:110,833,606–110,834,169 | 85.4 kb | Distal (>10kb) Multiome | 160 | |
| chr10:110,857,173–110,858,770 | 61.5 kb | Distal (>10kb) Multiome | 690 | |
| chr10:110,871,026–110,872,969 | 47.4 kb | Distal (>10kb) Multiome | 918 | |
| chr10:110,918,245–110,920,897 | 193 bp | At TSS Multiome | 1037 | |
| chr10:111,075,793–111,079,438 | 157.2 kb | Distal (>10kb) Multiome | 555 | |
| chr10:111,136,785–111,137,423 | 218.0 kb | Distal (>10kb) Multiome | 188 |
Genomic view of the BBIP1 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.