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 protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
Modules significantly affected by knockdown. ↑ Up = module upregulated upon KD; ↓ Down = module downregulated upon KD.
| Cluster | Dir | NES | padj | Bind | OR | padj (bind) |
|---|
| Module | Dir | NES | #gRNA | padj | Bind | OR | padj (bind) |
|---|
| Submodule | Module | Dir | NES | #gRNA | Bind | OR | padj (bind) |
|---|
Genes likely regulated by TBX3 through linked binding evidence in open chromatin. The chart ranks TF-linked genes by their mean Perturb-seq response to TBX3 knockdown, with negative coefficients indicating downregulation and positive coefficients indicating upregulation upon knockdown.
Open chromatin elements (ATAC-seq) where TBX3 has ChIP-seq or motif footprint binding evidence and which are linked to at least one target gene region.
| Element | Size | Linked genes |
|---|
Transcription factors with Perturb-seq knockdown data for TBX3. 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 = TBX3 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 TBX3, 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 |
|---|---|---|---|---|
| chr12:114,403,029–114,403,452 | 281.0 kb | Distal (>10kb) Multiome | 112 | |
| chr12:114,408,869–114,409,379 | 275.0 kb | Distal (>10kb) Multiome | 79 | |
| chr12:114,656,987–114,657,820 | 26.8 kb | Distal (>10kb) Multiome | 221 | |
| chr12:114,668,005–114,669,236 | 15.7 kb | Distal (>10kb) Multiome | 557 | |
| chr12:114,674,195–114,674,795 | 9.4 kb | Proximal (<10kb) | 138 | |
| chr12:114,683,478–114,686,174 | 1.5 kb | Proximal (<10kb) Multiome | 920 | |
| chr12:114,686,759–114,687,464 | 3.0 kb | Proximal (<10kb) Multiome | 156 | |
| chr12:114,692,178–114,692,739 | 8.0 kb | Proximal (<10kb) | 111 | |
| chr12:114,711,430–114,712,462 | 27.7 kb | Distal (>10kb) Multiome | 98 | |
| chr12:115,163,558–115,164,209 | 479.7 kb | Distal (>10kb) Multiome HiCAR | 98 | |
| chr12:115,207,704–115,208,364 | 523.8 kb | Distal (>10kb) Multiome HiCAR | 25 | |
| chr12:115,370,670–115,371,193 | 686.7 kb | Distal (>10kb) Multiome HiCAR | 52 | |
| chr12:115,451,794–115,452,615 | 767.9 kb | Distal (>10kb) Multiome HiCAR | 393 | |
| chr12:115,507,863–115,508,611 | 824.0 kb | Distal (>10kb) Multiome HiCAR | 309 | |
| chr12:115,794,594–115,795,278 | 1110.8 kb | Distal (>10kb) Multiome HiCAR | 113 | |
| chr12:115,916,891–115,917,494 | 1233.1 kb | Distal (>10kb) Multiome HiCAR | 363 |
Genomic view of the TBX3 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.