This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]
Transcription factors with Perturb-seq knockdown data for ERCC6L2. 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 = ERCC6L2 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 ERCC6L2, 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 |
|---|---|---|---|---|
| chr9:95,510,553–95,511,685 | 364.6 kb | Distal (>10kb) Multiome HiCAR | 774 | |
| chr9:95,770,703–95,771,269 | 104.8 kb | Distal (>10kb) Multiome | 92 | |
| chr9:95,874,993–95,876,354 | 76 bp | At TSS Multiome | 1044 | |
| chr9:95,907,834–95,908,434 | 32.4 kb | Distal (>10kb) Multiome | 42 |
Genomic view of the ERCC6L2 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.