This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]
Transcription factors with Perturb-seq knockdown data for TWIST1. 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 = TWIST1 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 TWIST1, 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 |
|---|---|---|---|---|
| chr7:19,106,048–19,108,957 | 8.7 kb | Proximal (<10kb) | 427 | |
| chr7:19,110,900–19,111,309 | 6.3 kb | Proximal (<10kb) | 45 | |
| chr7:19,112,307–19,112,836 | 4.8 kb | Proximal (<10kb) | 130 | |
| chr7:19,116,132–19,119,599 | at TSS | At TSS | 544 | |
| chr7:19,119,862–19,120,132 | 2.2 kb | Proximal (<10kb) | 41 | |
| chr7:19,122,070–19,122,274 | 4.4 kb | Proximal (<10kb) | 85 |
Genomic view of the TWIST1 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.