This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for COL8A1. 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 = COL8A1 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 COL8A1, 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 |
|---|---|---|---|---|
| chr3:99,633,994–99,634,168 | 4.4 kb | Proximal (<10kb) | 41 | |
| chr3:99,636,894–99,638,832 | 109 bp | At TSS Multiome | 383 | |
| chr3:99,641,681–99,642,031 | 3.1 kb | Proximal (<10kb) | 17 | |
| chr3:99,642,136–99,642,312 | 3.5 kb | Proximal (<10kb) | 18 | |
| chr3:99,645,240–99,645,667 | 6.6 kb | Proximal (<10kb) | 85 | |
| chr3:99,645,775–99,646,027 | 7.2 kb | Proximal (<10kb) | 30 | |
| chr3:99,647,546–99,648,310 | 9.0 kb | Proximal (<10kb) | 97 | |
| chr3:99,817,100–99,818,445 | 179.3 kb | Distal (>10kb) Multiome | 928 | |
| chr3:99,875,643–99,876,736 | 237.6 kb | Distal (>10kb) Multiome | 800 |
Genomic view of the COL8A1 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.