The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
Transcription factors with Perturb-seq knockdown data for CPLANE1. 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 = CPLANE1 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 CPLANE1, 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 |
|---|---|---|---|---|
| chr5:37,086,434–37,087,024 | 162.7 kb | Distal (>10kb) Multiome | 249 | |
| chr5:37,090,010–37,091,198 | 158.9 kb | Distal (>10kb) Multiome | 257 | |
| chr5:37,248,873–37,250,119 | 40 bp | At TSS Multiome | 766 | |
| chr5:37,370,778–37,371,902 | 121.9 kb | Distal (>10kb) Multiome | 899 | |
| chr5:37,379,009–37,379,643 | 129.9 kb | Distal (>10kb) Multiome | 490 |
Genomic view of the CPLANE1 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.