This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for DSP. 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 = DSP 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 DSP, 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 |
|---|---|---|---|---|
| chr6:7,260,713–7,262,501 | 280.2 kb | Distal (>10kb) Multiome HiCAR | 852 | |
| chr6:7,312,560–7,313,754 | 228.3 kb | Distal (>10kb) Multiome HiCAR | 1075 | |
| chr6:7,347,359–7,348,352 | 193.8 kb | Distal (>10kb) Multiome | 256 | |
| chr6:7,389,283–7,390,343 | 151.8 kb | Distal (>10kb) Multiome HiCAR | 1040 | |
| chr6:7,532,325–7,532,503 | 9.1 kb | Proximal (<10kb) | 140 | |
| chr6:7,540,580–7,540,874 | 698 bp | At TSS | 138 | |
| chr6:7,541,127–7,543,319 | 28 bp | At TSS Multiome | 970 | |
| chr6:7,548,319–7,549,268 | 7.1 kb | Proximal (<10kb) Multiome | 504 | |
| chr6:7,589,842–7,590,956 | 48.7 kb | Distal (>10kb) Multiome | 877 | |
| chr6:7,615,396–7,616,491 | 74.5 kb | Distal (>10kb) Multiome | 297 | |
| chr6:7,672,770–7,673,478 | 131.7 kb | Distal (>10kb) Multiome | 337 | |
| chr6:7,725,533–7,728,906 | 184.5 kb | Distal (>10kb) Multiome | 639 |
Genomic view of the DSP 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.