This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for BTBD9. 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 = BTBD9 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 BTBD9, 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 |
|---|---|---|---|---|
| chr6:38,399,962–38,401,229 | 239.5 kb | Distal (>10kb) Multiome | 154 | |
| chr6:38,433,142–38,434,636 | 205.6 kb | Distal (>10kb) Multiome | 76 | |
| chr6:38,477,364–38,478,181 | 162.1 kb | Distal (>10kb) Multiome | 82 | |
| chr6:38,637,841–38,638,038 | 1.9 kb | Proximal (<10kb) | 7 | |
| chr6:38,639,224–38,640,428 | 51 bp | At TSS Multiome | 836 | |
| chr6:38,702,618–38,703,392 | 63.2 kb | Distal (>10kb) Multiome | 886 |
Genomic view of the BTBD9 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.