The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Transcription factors with Perturb-seq knockdown data for ERC1. 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 = ERC1 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 ERC1, 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 |
|---|---|---|---|---|
| chr12:569,602–571,188 | 421.3 kb | Distal (>10kb) Multiome HiCAR | 800 | |
| chr12:740,453–741,486 | 250.2 kb | Distal (>10kb) Multiome | 114 | |
| chr12:751,121–751,920 | 239.9 kb | Distal (>10kb) Multiome | 860 | |
| chr12:752,026–753,528 | 238.7 kb | Distal (>10kb) Multiome | 747 | |
| chr12:949,091–950,483 | 41.4 kb | Distal (>10kb) Multiome | 982 | |
| chr12:990,383–991,780 | 20 bp | At TSS Multiome | 990 | |
| chr12:1,489,149–1,489,771 | 498.2 kb | Distal (>10kb) Multiome | 84 | |
| chr12:1,580,606–1,581,311 | 589.6 kb | Distal (>10kb) Multiome HiCAR | 62 |
Genomic view of the ERC1 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.