This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for CCDC8. 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 = CCDC8 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 CCDC8, 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 |
|---|---|---|---|---|
| chr19:46,133,049–46,133,620 | 280.1 kb | Distal (>10kb) Multiome | 189 | |
| chr19:46,186,238–46,186,877 | 227.0 kb | Distal (>10kb) Multiome | 83 | |
| chr19:46,240,361–46,242,067 | 172.7 kb | Distal (>10kb) Multiome | 199 | |
| chr19:46,264,949–46,266,023 | 148.1 kb | Distal (>10kb) Multiome | 189 | |
| chr19:46,270,338–46,270,840 | 142.9 kb | Distal (>10kb) Multiome | 63 | |
| chr19:46,278,494–46,279,057 | 134.9 kb | Distal (>10kb) Multiome | 15 | |
| chr19:46,296,572–46,297,359 | 116.6 kb | Distal (>10kb) Multiome | 158 | |
| chr19:46,300,632–46,301,183 | 112.5 kb | Distal (>10kb) Multiome | 282 | |
| chr19:46,303,439–46,304,504 | 109.4 kb | Distal (>10kb) Multiome | 300 | |
| chr19:46,346,454–46,347,599 | 66.5 kb | Distal (>10kb) Multiome | 835 | |
| chr19:46,373,466–46,374,149 | 39.8 kb | Distal (>10kb) Multiome | 293 | |
| chr19:46,403,871–46,405,027 | 8.5 kb | Proximal (<10kb) | 556 | |
| chr19:46,413,092–46,414,029 | 80 bp | At TSS Multiome | 530 | |
| chr19:46,416,168–46,416,925 | 3.0 kb | Proximal (<10kb) Multiome | 522 | |
| chr19:46,426,339–46,427,101 | 13.2 kb | Distal (>10kb) Multiome | 220 | |
| chr19:46,471,149–46,471,898 | 58.0 kb | Distal (>10kb) Multiome | 339 | |
| chr19:46,495,489–46,496,206 | 82.3 kb | Distal (>10kb) Multiome | 177 | |
| chr19:46,587,845–46,588,467 | 174.6 kb | Distal (>10kb) Multiome | 21 | |
| chr19:46,600,411–46,601,577 | 187.5 kb | Distal (>10kb) Multiome | 1006 | |
| chr19:46,633,826–46,635,061 | 220.8 kb | Distal (>10kb) Multiome | 365 | |
| chr19:46,638,437–46,639,929 | 225.5 kb | Distal (>10kb) Multiome | 741 | |
| chr19:46,659,987–46,662,280 | 247.8 kb | Distal (>10kb) Multiome | 691 | |
| chr19:46,696,773–46,698,048 | 284.0 kb | Distal (>10kb) Multiome | 408 |
Genomic view of the CCDC8 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.