This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Transcription factors with Perturb-seq knockdown data for CEP250. 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 = CEP250 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 CEP250, 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 |
|---|---|---|---|---|
| chr20:35,171,731–35,172,358 | 283.2 kb | Distal (>10kb) Multiome | 383 | |
| chr20:35,174,680–35,175,277 | 280.2 kb | Distal (>10kb) Multiome | 635 | |
| chr20:35,262,839–35,263,582 | 191.8 kb | Distal (>10kb) Multiome | 336 | |
| chr20:35,269,197–35,269,766 | 185.7 kb | Distal (>10kb) Multiome | 447 | |
| chr20:35,277,415–35,278,519 | 177.1 kb | Distal (>10kb) Multiome | 575 | |
| chr20:35,284,235–35,285,360 | 170.4 kb | Distal (>10kb) Multiome | 950 | |
| chr20:35,303,859–35,304,479 | 151.1 kb | Distal (>10kb) Multiome HiCAR | 484 | |
| chr20:35,447,115–35,447,481 | 7.7 kb | Proximal (<10kb) | 409 | |
| chr20:35,454,521–35,455,845 | 17 bp | At TSS Multiome | 1059 | |
| chr20:35,463,814–35,463,994 | 8.6 kb | Proximal (<10kb) | 233 | |
| chr20:35,539,672–35,540,321 | 84.8 kb | Distal (>10kb) Multiome | 311 | |
| chr20:35,541,280–35,542,685 | 86.9 kb | Distal (>10kb) Multiome | 849 | |
| chr20:35,600,739–35,601,999 | 146.4 kb | Distal (>10kb) Multiome | 575 | |
| chr20:35,604,921–35,605,589 | 150.2 kb | Distal (>10kb) Multiome | 27 | |
| chr20:35,615,559–35,617,919 | 162.7 kb | Distal (>10kb) Multiome | 1169 | |
| chr20:35,618,589–35,619,849 | 164.3 kb | Distal (>10kb) Multiome | 865 | |
| chr20:35,664,428–35,665,171 | 209.8 kb | Distal (>10kb) Multiome | 1018 | |
| chr20:35,698,724–35,699,893 | 244.2 kb | Distal (>10kb) Multiome | 1035 | |
| chr20:35,741,564–35,742,903 | 287.2 kb | Distal (>10kb) Multiome | 1145 |
Genomic view of the CEP250 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.