The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
Transcription factors with Perturb-seq knockdown data for RPGRIP1L. 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 = RPGRIP1L 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 RPGRIP1L, 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 |
|---|---|---|---|---|
| chr16:53,433,981–53,435,683 | 269.3 kb | Distal (>10kb) Multiome | 929 | |
| chr16:53,502,382–53,504,919 | 200.4 kb | Distal (>10kb) Multiome | 983 | |
| chr16:53,703,446–53,704,426 | 162 bp | At TSS Multiome | 861 | |
| chr16:54,927,769–54,931,725 | 1226.9 kb | Distal (>10kb) Multiome HiCAR | 746 | |
| chr16:55,056,580–55,057,535 | 1353.1 kb | Distal (>10kb) Multiome HiCAR | 230 |
Genomic view of the RPGRIP1L 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.