This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for CEP290. 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 = CEP290 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 CEP290, 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 |
|---|---|---|---|---|
| chr12:88,034,997–88,036,230 | 106.5 kb | Distal (>10kb) Multiome | 873 | |
| chr12:88,141,512–88,143,080 | 93 bp | At TSS Multiome | 892 | |
| chr12:88,143,757–88,144,303 | 1.9 kb | Proximal (<10kb) | 35 | |
| chr12:88,145,517–88,146,485 | 3.7 kb | Proximal (<10kb) | 77 | |
| chr12:88,921,388–88,922,852 | 780.0 kb | Distal (>10kb) Multiome HiCAR | 153 | |
| chr12:88,942,685–88,944,156 | 801.5 kb | Distal (>10kb) Multiome HiCAR | 122 |
Genomic view of the CEP290 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.