This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
Transcription factors with Perturb-seq knockdown data for CCBE1. 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 = CCBE1 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 CCBE1, 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 |
|---|---|---|---|---|
| chr18:59,402,363–59,402,995 | 294.8 kb | Distal (>10kb) Multiome | 491 | |
| chr18:59,690,149–59,690,799 | 6.6 kb | Proximal (<10kb) | 111 | |
| chr18:59,696,392–59,697,954 | 103 bp | At TSS Multiome | 451 | |
| chr18:59,705,578–59,705,939 | 8.2 kb | Proximal (<10kb) | 14 | |
| chr18:59,706,589–59,706,930 | 9.2 kb | Proximal (<10kb) | 25 | |
| chr18:59,863,681–59,864,771 | 166.9 kb | Distal (>10kb) Multiome | 281 | |
| chr18:59,898,933–59,901,245 | 202.5 kb | Distal (>10kb) Multiome | 872 |
Genomic view of the CCBE1 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.