TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
Transcription factors with Perturb-seq knockdown data for TBC1D1. 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 = TBC1D1 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 TBC1D1, 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 |
|---|---|---|---|---|
| chr4:37,653,460–37,654,106 | 237.3 kb | Distal (>10kb) Multiome | 164 | |
| chr4:37,685,221–37,687,509 | 204.5 kb | Distal (>10kb) Multiome | 846 | |
| chr4:37,711,861–37,713,394 | 178.3 kb | Distal (>10kb) Multiome | 94 | |
| chr4:37,825,715–37,827,578 | 64.4 kb | Distal (>10kb) Multiome | 884 | |
| chr4:37,889,830–37,891,847 | 143 bp | At TSS Multiome | 471 | |
| chr4:37,976,699–37,978,437 | 86.2 kb | Distal (>10kb) Multiome | 732 | |
| chr4:37,988,638–37,989,292 | 97.7 kb | Distal (>10kb) Multiome | 158 |
Genomic view of the TBC1D1 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.