This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Transcription factors with Perturb-seq knockdown data for ECEL1. 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 = ECEL1 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 ECEL1, 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 |
|---|---|---|---|---|
| chr2:232,420,461–232,421,549 | 65.5 kb | Distal (>10kb) Multiome | 314 | |
| chr2:232,423,141–232,423,928 | 63.1 kb | Distal (>10kb) Multiome | 59 | |
| chr2:232,485,614–232,486,808 | 1.0 kb | Proximal (<10kb) | 111 | |
| chr2:232,487,095–232,488,614 | 1.4 kb | Proximal (<10kb) Multiome | 195 | |
| chr2:232,502,853–232,503,842 | 16.5 kb | Distal (>10kb) Multiome | 267 | |
| chr2:232,521,933–232,522,564 | 35.6 kb | Distal (>10kb) Multiome HiCAR | 295 | |
| chr2:232,523,649–232,524,530 | 37.6 kb | Distal (>10kb) Multiome HiCAR | 409 | |
| chr2:232,550,181–232,551,341 | 64.0 kb | Distal (>10kb) Multiome | 1139 | |
| chr2:232,605,843–232,606,606 | 119.6 kb | Distal (>10kb) Multiome | 604 | |
| chr2:232,633,106–232,634,804 | 147.0 kb | Distal (>10kb) Multiome | 747 | |
| chr2:232,696,754–232,698,213 | 210.6 kb | Distal (>10kb) Multiome | 927 |
Genomic view of the ECEL1 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.