This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
Transcription factors with Perturb-seq knockdown data for B9D1. 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 = B9D1 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 B9D1, 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 |
|---|---|---|---|---|
| chr17:19,237,368–19,238,388 | 125.6 kb | Distal (>10kb) Multiome | 509 | |
| chr17:19,317,172–19,317,657 | 45.6 kb | Distal (>10kb) Multiome | 467 | |
| chr17:19,362,100–19,363,673 | 170 bp | At TSS Multiome | 804 | |
| chr17:19,377,561–19,379,155 | 15.3 kb | Distal (>10kb) Multiome | 877 | |
| chr17:19,386,868–19,387,884 | 24.2 kb | Distal (>10kb) Multiome | 305 | |
| chr17:19,433,247–19,433,662 | 70.5 kb | Distal (>10kb) Multiome | 30 | |
| chr17:19,455,896–19,456,558 | 93.1 kb | Distal (>10kb) Multiome | 43 | |
| chr17:19,457,529–19,459,378 | 95.1 kb | Distal (>10kb) Multiome | 100 | |
| chr17:19,460,682–19,461,395 | 98.2 kb | Distal (>10kb) Multiome | 93 | |
| chr17:19,507,283–19,508,789 | 145.1 kb | Distal (>10kb) Multiome HiCAR | 842 | |
| chr17:19,519,787–19,520,274 | 156.9 kb | Distal (>10kb) Multiome HiCAR | 130 | |
| chr17:19,533,700–19,534,412 | 170.9 kb | Distal (>10kb) Multiome | 488 | |
| chr17:19,579,724–19,580,220 | 216.8 kb | Distal (>10kb) Multiome | 101 | |
| chr17:19,645,969–19,646,517 | 283.1 kb | Distal (>10kb) Multiome HiCAR | 116 | |
| chr17:19,647,149–19,649,280 | 284.4 kb | Distal (>10kb) Multiome HiCAR | 1126 | |
| chr17:19,744,539–19,745,417 | 382.0 kb | Distal (>10kb) Multiome HiCAR | 325 |
Genomic view of the B9D1 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.