The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Transcription factors with Perturb-seq knockdown data for CKAP2L. 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 = CKAP2L 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 CKAP2L, 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 |
|---|---|---|---|---|
| chr2:112,480,926–112,482,608 | 283.5 kb | Distal (>10kb) Multiome | 860 | |
| chr2:112,541,785–112,542,849 | 222.4 kb | Distal (>10kb) Multiome | 1070 | |
| chr2:112,583,940–112,585,172 | 180.1 kb | Distal (>10kb) Multiome | 949 | |
| chr2:112,645,080–112,646,681 | 118.8 kb | Distal (>10kb) Multiome | 980 | |
| chr2:112,674,793–112,675,390 | 89.5 kb | Distal (>10kb) Multiome | 54 | |
| chr2:112,726,233–112,727,218 | 37.8 kb | Distal (>10kb) Multiome | 667 | |
| chr2:112,763,867–112,765,097 | 98 bp | At TSS Multiome | 854 | |
| chr2:112,848,882–112,849,414 | 84.5 kb | Distal (>10kb) Multiome | 76 | |
| chr2:112,884,727–112,885,204 | 120.4 kb | Distal (>10kb) Multiome HiCAR | 294 |
Genomic view of the CKAP2L 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.