This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]
Transcription factors with Perturb-seq knockdown data for COL27A1. 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 = COL27A1 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 COL27A1, 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 |
|---|---|---|---|---|
| chr9:113,876,036–113,876,485 | 279.3 kb | Distal (>10kb) Multiome | 213 | |
| chr9:114,097,958–114,099,449 | 56.9 kb | Distal (>10kb) Multiome | 455 | |
| chr9:114,107,965–114,108,461 | 47.4 kb | Distal (>10kb) Multiome HiCAR | 481 | |
| chr9:114,153,818–114,154,827 | 1.5 kb | Proximal (<10kb) Multiome | 561 | |
| chr9:114,154,931–114,156,548 | 57 bp | At TSS Multiome | 513 | |
| chr9:114,156,642–114,156,963 | 1.1 kb | Proximal (<10kb) | 247 | |
| chr9:114,159,297–114,159,555 | 3.8 kb | Proximal (<10kb) | 10 | |
| chr9:114,370,337–114,371,120 | 215.1 kb | Distal (>10kb) Multiome | 151 | |
| chr9:114,387,530–114,388,416 | 232.5 kb | Distal (>10kb) Multiome | 315 | |
| chr9:114,397,621–114,398,973 | 242.8 kb | Distal (>10kb) Multiome | 744 | |
| chr9:114,405,604–114,406,064 | 250.2 kb | Distal (>10kb) Multiome | 266 | |
| chr9:114,409,093–114,409,699 | 253.8 kb | Distal (>10kb) Multiome | 85 |
Genomic view of the COL27A1 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.