This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for TBX1. 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 = TBX1 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 TBX1, 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 |
|---|---|---|---|---|
| chr22:19,478,898–19,480,311 | 279.8 kb | Distal (>10kb) Multiome | 867 | |
| chr22:19,523,289–19,524,793 | 235.8 kb | Distal (>10kb) Multiome | 242 | |
| chr22:19,717,840–19,718,731 | 41.2 kb | Distal (>10kb) Multiome | 592 | |
| chr22:19,723,413–19,724,584 | 35.3 kb | Distal (>10kb) Multiome | 572 | |
| chr22:19,730,516–19,731,296 | 28.6 kb | Distal (>10kb) Multiome | 743 | |
| chr22:19,765,840–19,766,429 | 6.7 kb | Proximal (<10kb) Multiome | 174 | |
| chr22:19,854,381–19,855,705 | 95.5 kb | Distal (>10kb) Multiome | 1014 | |
| chr22:19,891,576–19,892,031 | 132.3 kb | Distal (>10kb) Multiome | 631 | |
| chr22:19,959,058–19,959,828 | 200.0 kb | Distal (>10kb) Multiome | 576 | |
| chr22:19,962,339–19,962,798 | 203.1 kb | Distal (>10kb) Multiome | 442 | |
| chr22:19,986,350–19,987,426 | 227.7 kb | Distal (>10kb) Multiome | 539 | |
| chr22:20,016,068–20,017,437 | 257.4 kb | Distal (>10kb) Multiome | 640 | |
| chr22:20,020,662–20,021,745 | 261.6 kb | Distal (>10kb) Multiome | 718 |
Genomic view of the TBX1 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.