Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for TMC6. 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 = TMC6 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 TMC6, 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 |
|---|---|---|---|---|
| chr17:77,915,676–77,916,129 | 212.7 kb | Distal (>10kb) Multiome | 105 | |
| chr17:77,935,380–77,936,363 | 192.8 kb | Distal (>10kb) Multiome | 171 | |
| chr17:77,957,585–77,959,667 | 170.1 kb | Distal (>10kb) Multiome | 1117 | |
| chr17:78,127,361–78,129,338 | 132 bp | At TSS Multiome | 909 | |
| chr17:78,134,386–78,134,632 | 5.8 kb | Proximal (<10kb) | 413 | |
| chr17:78,140,136–78,141,130 | 12.0 kb | Distal (>10kb) Multiome | 594 | |
| chr17:78,168,117–78,169,078 | 39.9 kb | Distal (>10kb) Multiome | 738 | |
| chr17:78,186,463–78,187,739 | 58.6 kb | Distal (>10kb) Multiome | 1021 | |
| chr17:78,213,978–78,214,702 | 85.6 kb | Distal (>10kb) Multiome | 902 | |
| chr17:78,231,715–78,232,315 | 103.4 kb | Distal (>10kb) Multiome | 147 | |
| chr17:78,250,689–78,251,651 | 122.4 kb | Distal (>10kb) Multiome | 714 | |
| chr17:78,254,178–78,254,892 | 125.9 kb | Distal (>10kb) Multiome | 860 | |
| chr17:78,270,255–78,273,257 | 143.8 kb | Distal (>10kb) Multiome | 667 | |
| chr17:78,278,089–78,278,902 | 149.9 kb | Distal (>10kb) Multiome | 225 | |
| chr17:78,313,762–78,314,579 | 185.7 kb | Distal (>10kb) Multiome | 636 | |
| chr17:78,341,604–78,342,374 | 213.4 kb | Distal (>10kb) Multiome | 423 | |
| chr17:78,351,461–78,352,240 | 223.1 kb | Distal (>10kb) Multiome | 383 | |
| chr17:78,352,598–78,353,774 | 224.5 kb | Distal (>10kb) Multiome | 687 | |
| chr17:78,356,201–78,356,710 | 227.8 kb | Distal (>10kb) Multiome | 319 | |
| chr17:78,358,869–78,361,525 | 231.6 kb | Distal (>10kb) Multiome | 898 | |
| chr17:78,365,478–78,366,101 | 237.2 kb | Distal (>10kb) Multiome | 305 | |
| chr17:78,378,324–78,379,091 | 250.0 kb | Distal (>10kb) Multiome | 921 |
Genomic view of the TMC6 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.