This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Transcription factors with Perturb-seq knockdown data for L3MBTL1. 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 = L3MBTL1 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 L3MBTL1, 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 |
|---|---|---|---|---|
| chr20:43,457,127–43,458,915 | 49.9 kb | Distal (>10kb) Multiome | 1116 | |
| chr20:43,507,189–43,508,028 | 17 bp | At TSS Multiome | 658 | |
| chr20:43,508,294–43,509,032 | 1.2 kb | Proximal (<10kb) Multiome | 227 | |
| chr20:43,513,723–43,515,130 | 6.6 kb | Proximal (<10kb) Multiome | 700 | |
| chr20:43,590,411–43,591,331 | 83.2 kb | Distal (>10kb) Multiome | 897 | |
| chr20:43,657,233–43,658,086 | 149.9 kb | Distal (>10kb) Multiome | 995 | |
| chr20:43,666,536–43,667,856 | 159.3 kb | Distal (>10kb) Multiome | 852 | |
| chr20:43,732,772–43,733,261 | 225.4 kb | Distal (>10kb) Multiome | 21 |
Genomic view of the L3MBTL1 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.