The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for ECE1. 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 = ECE1 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 ECE1, 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 |
|---|---|---|---|---|
| chr1:21,175,743–21,177,594 | 168.5 kb | Distal (>10kb) Multiome | 807 | |
| chr1:21,289,691–21,290,756 | 55.5 kb | Distal (>10kb) Multiome | 389 | |
| chr1:21,338,733–21,339,181 | 6.3 kb | Proximal (<10kb) | 515 | |
| chr1:21,344,857–21,346,026 | 105 bp | At TSS Multiome | 850 | |
| chr1:21,436,521–21,437,523 | 91.5 kb | Distal (>10kb) Multiome | 100 | |
| chr1:21,439,762–21,440,452 | 94.6 kb | Distal (>10kb) Multiome | 454 | |
| chr1:21,490,894–21,491,460 | 145.5 kb | Distal (>10kb) Multiome | 154 | |
| chr1:21,491,962–21,492,562 | 146.8 kb | Distal (>10kb) Multiome | 116 | |
| chr1:21,497,823–21,498,256 | 152.6 kb | Distal (>10kb) Multiome | 85 | |
| chr1:21,508,855–21,510,512 | 164.9 kb | Distal (>10kb) Multiome | 399 | |
| chr1:21,607,576–21,608,530 | 262.5 kb | Distal (>10kb) Multiome | 338 | |
| chr1:21,621,983–21,623,132 | 277.1 kb | Distal (>10kb) Multiome | 228 | |
| chr1:21,638,784–21,640,464 | 294.3 kb | Distal (>10kb) Multiome | 542 |
Genomic view of the ECE1 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.