This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for CBLL1. 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 = CBLL1 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 CBLL1, 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 |
|---|---|---|---|---|
| chr7:107,563,398–107,564,589 | 180.2 kb | Distal (>10kb) Multiome | 912 | |
| chr7:107,579,664–107,580,832 | 163.9 kb | Distal (>10kb) Multiome | 915 | |
| chr7:107,660,462–107,662,091 | 82.6 kb | Distal (>10kb) Multiome | 578 | |
| chr7:107,742,953–107,744,685 | 295 bp | At TSS Multiome | 1055 | |
| chr7:107,890,620–107,891,827 | 147.1 kb | Distal (>10kb) Multiome | 950 | |
| chr7:107,932,723–107,933,235 | 188.9 kb | Distal (>10kb) Multiome | 109 | |
| chr7:108,001,297–108,001,784 | 257.4 kb | Distal (>10kb) Multiome | 244 | |
| chr7:108,001,968–108,003,797 | 259.0 kb | Distal (>10kb) Multiome | 685 |
Genomic view of the CBLL1 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.