This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]
Transcription factors with Perturb-seq knockdown data for RTTN. 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 = RTTN 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 RTTN, 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 |
|---|---|---|---|---|
| chr18:69,934,769–69,935,767 | 270.3 kb | Distal (>10kb) Multiome | 356 | |
| chr18:70,195,061–70,196,113 | 9.5 kb | Proximal (<10kb) | 179 | |
| chr18:70,205,186–70,206,441 | 272 bp | At TSS Multiome | 1062 | |
| chr18:70,207,264–70,207,621 | 1.6 kb | Proximal (<10kb) | 21 | |
| chr18:70,221,237–70,221,835 | 15.9 kb | Distal (>10kb) Multiome | 113 | |
| chr18:70,288,229–70,290,011 | 83.3 kb | Distal (>10kb) Multiome | 561 | |
| chr18:70,339,826–70,340,576 | 134.6 kb | Distal (>10kb) Multiome | 135 |
Genomic view of the RTTN 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.