This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for LCA5. 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 = LCA5 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 LCA5, 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 |
|---|---|---|---|---|
| chr6:79,536,670–79,538,229 | 29 bp | At TSS Multiome | 794 | |
| chr6:79,544,022–79,544,825 | 6.6 kb | Proximal (<10kb) | 150 | |
| chr6:79,544,950–79,545,354 | 7.5 kb | Proximal (<10kb) | 600 | |
| chr6:79,568,949–79,569,872 | 31.9 kb | Distal (>10kb) Multiome | 38 | |
| chr6:79,570,263–79,571,258 | 33.3 kb | Distal (>10kb) Multiome | 384 | |
| chr6:79,630,790–79,632,025 | 93.9 kb | Distal (>10kb) Multiome | 750 | |
| chr6:79,777,822–79,779,056 | 240.8 kb | Distal (>10kb) Multiome | 471 |
Genomic view of the LCA5 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.