The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for EPM2AIP1. 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 = EPM2AIP1 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 EPM2AIP1, 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 |
|---|---|---|---|---|
| chr3:36,763,790–36,765,063 | 228.7 kb | Distal (>10kb) Multiome | 293 | |
| chr3:36,843,022–36,843,960 | 149.5 kb | Distal (>10kb) Multiome | 228 | |
| chr3:36,868,736–36,869,366 | 124.2 kb | Distal (>10kb) Multiome | 230 | |
| chr3:36,943,704–36,946,013 | 48.6 kb | Distal (>10kb) Multiome | 388 | |
| chr3:36,965,264–36,965,767 | 27.5 kb | Distal (>10kb) Multiome | 89 | |
| chr3:37,175,555–37,176,875 | 183.2 kb | Distal (>10kb) Multiome | 907 | |
| chr3:37,242,726–37,244,363 | 250.2 kb | Distal (>10kb) Multiome | 969 |
Genomic view of the EPM2AIP1 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.