This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for CERKL. 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 = CERKL 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 CERKL, 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 |
|---|---|---|---|---|
| chr2:181,656,181–181,658,869 | at TSS | At TSS | 546 | |
| chr2:181,660,167–181,660,644 | 3.1 kb | Proximal (<10kb) | 77 | |
| chr2:181,665,217–181,665,739 | 8.1 kb | Proximal (<10kb) | 81 | |
| chr2:181,677,659–181,678,624 | 2.0 kb | Proximal (<10kb) | 585 | |
| chr2:181,679,567–181,680,020 | 644 bp | At TSS | 62 | |
| chr2:181,680,198–181,681,989 | at TSS | At TSS | 316 | |
| chr2:181,682,538–181,684,472 | 1.9 kb | Proximal (<10kb) | 355 | |
| chr2:181,685,109–181,685,573 | 4.4 kb | Proximal (<10kb) | 162 |
Genomic view of the CERKL 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.