The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]
Transcription factors with Perturb-seq knockdown data for CNGA1. 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 = CNGA1 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 CNGA1, 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 |
|---|---|---|---|---|
| chr4:47,836,414–47,838,176 | 179.7 kb | Distal (>10kb) Multiome | 604 | |
| chr4:47,913,703–47,915,119 | 102.0 kb | Distal (>10kb) Multiome | 856 | |
| chr4:47,926,660–47,927,239 | 89.8 kb | Distal (>10kb) Multiome | 243 | |
| chr4:48,015,887–48,017,756 | 1 bp | At TSS Multiome | 714 | |
| chr4:48,126,799–48,128,119 | 111.2 kb | Distal (>10kb) Multiome | 526 | |
| chr4:48,268,963–48,270,705 | 253.2 kb | Distal (>10kb) Multiome | 781 |
Genomic view of the CNGA1 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.