The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for SIX1. 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 = SIX1 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 SIX1, 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 |
|---|---|---|---|---|
| chr14:60,641,851–60,643,218 | 6.3 kb | Proximal (<10kb) | 222 | |
| chr14:60,643,691–60,644,440 | 5.0 kb | Proximal (<10kb) | 226 | |
| chr14:60,646,673–60,646,813 | 2.7 kb | Proximal (<10kb) | 78 | |
| chr14:60,647,077–60,647,995 | 1.5 kb | Proximal (<10kb) | 335 | |
| chr14:60,648,454–60,651,189 | at TSS | At TSS | 790 | |
| chr14:60,652,399–60,652,671 | 2.9 kb | Proximal (<10kb) | 71 | |
| chr14:60,653,151–60,653,719 | 3.7 kb | Proximal (<10kb) | 152 | |
| chr14:60,655,802–60,657,953 | 6.3 kb | Proximal (<10kb) | 631 | |
| chr14:60,658,254–60,658,475 | 8.8 kb | Proximal (<10kb) | 43 |
Genomic view of the SIX1 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.