The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for ELP1. 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 = ELP1 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 ELP1, 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 |
|---|---|---|---|---|
| chr9:107,459,805–107,460,688 | 1473.8 kb | Distal (>10kb) Multiome HiCAR | 143 | |
| chr9:107,465,452–107,466,627 | 1468.3 kb | Distal (>10kb) Multiome HiCAR | 320 | |
| chr9:108,933,334–108,934,940 | 115 bp | At TSS Multiome | 940 | |
| chr9:109,012,369–109,014,144 | 79.5 kb | Distal (>10kb) Multiome | 780 | |
| chr9:109,118,835–109,120,627 | 185.9 kb | Distal (>10kb) Multiome | 832 | |
| chr9:109,166,465–109,167,517 | 233.1 kb | Distal (>10kb) Multiome | 131 |
Genomic view of the ELP1 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.