This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Transcription factors with Perturb-seq knockdown data for EFHC1. 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 = EFHC1 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 EFHC1, 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 |
|---|---|---|---|---|
| chr6:52,076,807–52,077,726 | 284.8 kb | Distal (>10kb) Multiome | 279 | |
| chr6:52,155,932–52,156,462 | 205.9 kb | Distal (>10kb) Multiome | 260 | |
| chr6:52,284,162–52,285,425 | 77.2 kb | Distal (>10kb) Multiome | 958 | |
| chr6:52,307,052–52,307,665 | 54.8 kb | Distal (>10kb) Multiome | 164 | |
| chr6:52,325,495–52,326,616 | 36.1 kb | Distal (>10kb) Multiome | 519 | |
| chr6:52,361,573–52,363,274 | 18 bp | At TSS Multiome | 796 | |
| chr6:52,413,171–52,413,920 | 51.4 kb | Distal (>10kb) Multiome | 46 | |
| chr6:52,419,778–52,421,057 | 58.1 kb | Distal (>10kb) Multiome | 913 | |
| chr6:52,576,332–52,577,737 | 215.0 kb | Distal (>10kb) Multiome | 1007 | |
| chr6:52,598,101–52,598,732 | 236.3 kb | Distal (>10kb) Multiome | 684 | |
| chr6:52,664,088–52,665,240 | 302.2 kb | Distal (>10kb) Multiome HiCAR | 857 |
Genomic view of the EFHC1 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.