This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Transcription factors with Perturb-seq knockdown data for CEP41. 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 = CEP41 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 CEP41, 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 |
|---|---|---|---|---|
| chr7:130,140,676–130,141,967 | 299.4 kb | Distal (>10kb) Multiome | 371 | |
| chr7:130,204,919–130,205,826 | 235.6 kb | Distal (>10kb) Multiome | 874 | |
| chr7:130,272,868–130,273,649 | 167.6 kb | Distal (>10kb) Multiome | 220 | |
| chr7:130,440,505–130,441,456 | 93 bp | At TSS Multiome | 666 | |
| chr7:130,441,633–130,441,805 | 623 bp | At TSS | 113 | |
| chr7:130,485,879–130,487,031 | 45.3 kb | Distal (>10kb) Multiome | 696 | |
| chr7:130,575,139–130,575,863 | 134.4 kb | Distal (>10kb) Multiome | 72 | |
| chr7:130,667,922–130,669,330 | 227.6 kb | Distal (>10kb) Multiome | 738 | |
| chr7:130,733,079–130,734,492 | 292.8 kb | Distal (>10kb) Multiome | 383 |
Genomic view of the CEP41 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.