This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]
Transcription factors with Perturb-seq knockdown data for KCNMA1. 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 = KCNMA1 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 KCNMA1, 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 |
|---|---|---|---|---|
| chr10:77,636,808–77,638,881 | at TSS | At TSS | 354 | |
| chr10:77,644,080–77,644,299 | 6.0 kb | Proximal (<10kb) | 155 | |
| chr10:77,711,094–77,711,911 | 73.9 kb | Distal (>10kb) Multiome | 389 | |
| chr10:77,846,603–77,847,343 | 209.4 kb | Distal (>10kb) Multiome | 348 | |
| chr10:77,877,430–77,878,558 | 240.3 kb | Distal (>10kb) Multiome | 354 | |
| chr10:77,889,322–77,889,884 | 252.0 kb | Distal (>10kb) Multiome | 368 | |
| chr10:77,925,988–77,927,324 | 289.0 kb | Distal (>10kb) Multiome | 571 |
Genomic view of the KCNMA1 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.