This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for CHAT. 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 = CHAT 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 CHAT, 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 |
|---|---|---|---|---|
| chr10:49,607,015–49,607,434 | 5.7 kb | Proximal (<10kb) | 533 | |
| chr10:49,609,325–49,610,869 | 2.2 kb | Proximal (<10kb) | 222 | |
| chr10:49,611,047–49,611,908 | 1.2 kb | Proximal (<10kb) | 128 | |
| chr10:49,612,734–49,613,346 | at TSS | At TSS | 89 | |
| chr10:49,614,094–49,614,593 | 987 bp | At TSS | 66 | |
| chr10:49,619,764–49,619,958 | 6.7 kb | Proximal (<10kb) | 28 |
Genomic view of the CHAT 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.