This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for COL7A1. 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 = COL7A1 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 COL7A1, 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 |
|---|---|---|---|---|
| chr3:48,300,947–48,301,746 | 263.6 kb | Distal (>10kb) Multiome | 954 | |
| chr3:48,372,864–48,373,543 | 191.8 kb | Distal (>10kb) Multiome | 49 | |
| chr3:48,428,528–48,430,504 | 135.0 kb | Distal (>10kb) Multiome | 910 | |
| chr3:48,439,801–48,440,548 | 124.8 kb | Distal (>10kb) Multiome | 787 | |
| chr3:48,446,396–48,447,180 | 118.3 kb | Distal (>10kb) Multiome | 767 | |
| chr3:48,465,344–48,466,310 | 99.3 kb | Distal (>10kb) Multiome HiCAR | 670 | |
| chr3:48,472,636–48,473,658 | 91.8 kb | Distal (>10kb) Multiome | 821 | |
| chr3:48,503,451–48,504,839 | 60.9 kb | Distal (>10kb) Multiome | 419 | |
| chr3:48,556,022–48,557,666 | 8.0 kb | Proximal (<10kb) Multiome | 794 | |
| chr3:48,558,131–48,558,793 | 6.6 kb | Proximal (<10kb) Multiome | 503 | |
| chr3:48,608,816–48,610,628 | 44.6 kb | Distal (>10kb) Multiome | 850 | |
| chr3:48,634,696–48,636,251 | 70.6 kb | Distal (>10kb) Multiome | 898 | |
| chr3:48,655,787–48,657,257 | 91.4 kb | Distal (>10kb) Multiome | 438 | |
| chr3:48,661,275–48,664,636 | 96.7 kb | Distal (>10kb) Multiome | 1248 | |
| chr3:48,685,362–48,686,531 | 120.9 kb | Distal (>10kb) Multiome | 770 | |
| chr3:48,716,958–48,717,863 | 152.3 kb | Distal (>10kb) Multiome | 634 | |
| chr3:48,847,059–48,848,224 | 282.8 kb | Distal (>10kb) Multiome | 772 |
Genomic view of the COL7A1 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.