This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]
Transcription factors with Perturb-seq knockdown data for CRB1. 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 = CRB1 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 CRB1, 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 |
|---|---|---|---|---|
| chr1:197,268,090–197,268,438 | at TSS | At TSS | 50 | |
| chr1:197,437,200–197,437,376 | 4.8 kb | Proximal (<10kb) | 3 | |
| chr1:197,437,881–197,438,201 | 4.0 kb | Proximal (<10kb) | 39 | |
| chr1:197,438,302–197,438,444 | 3.7 kb | Proximal (<10kb) | 43 | |
| chr1:197,439,755–197,440,029 | 2.1 kb | Proximal (<10kb) | 17 | |
| chr1:197,441,724–197,442,373 | at TSS | At TSS | 146 | |
| chr1:197,442,855–197,443,066 | 686 bp | At TSS | 25 | |
| chr1:197,444,950–197,445,269 | 2.8 kb | Proximal (<10kb) | 17 | |
| chr1:197,445,401–197,445,512 | 3.2 kb | Proximal (<10kb) | 3 |
Genomic view of the CRB1 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.