This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
Transcription factors with Perturb-seq knockdown data for COL9A3. 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 = COL9A3 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 COL9A3, 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 |
|---|---|---|---|---|
| chr20:62,641,913–62,643,114 | 173.9 kb | Distal (>10kb) Multiome | 874 | |
| chr20:62,791,452–62,791,941 | 24.6 kb | Distal (>10kb) Multiome | 645 | |
| chr20:62,793,003–62,795,717 | 21.9 kb | Distal (>10kb) Multiome | 1051 | |
| chr20:62,796,248–62,797,075 | 19.7 kb | Distal (>10kb) Multiome | 566 | |
| chr20:62,808,356–62,808,554 | 7.7 kb | Proximal (<10kb) | 312 | |
| chr20:62,815,479–62,817,462 | 744 bp | At TSS Multiome | 503 | |
| chr20:62,824,643–62,825,353 | 8.8 kb | Proximal (<10kb) Multiome | 339 | |
| chr20:62,860,497–62,862,892 | 45.7 kb | Distal (>10kb) Multiome | 996 | |
| chr20:62,900,083–62,900,558 | 84.2 kb | Distal (>10kb) Multiome | 764 | |
| chr20:62,925,950–62,926,856 | 110.3 kb | Distal (>10kb) Multiome | 874 | |
| chr20:62,928,980–62,929,573 | 113.1 kb | Distal (>10kb) Multiome | 289 | |
| chr20:62,937,285–62,938,569 | 121.8 kb | Distal (>10kb) Multiome | 1026 | |
| chr20:63,006,367–63,007,246 | 190.7 kb | Distal (>10kb) Multiome | 189 | |
| chr20:63,071,594–63,072,696 | 255.7 kb | Distal (>10kb) Multiome | 246 |
Genomic view of the COL9A3 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.