This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for TCTN1. 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 = TCTN1 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 TCTN1, 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 |
|---|---|---|---|---|
| chr12:110,403,190–110,403,822 | 210.4 kb | Distal (>10kb) Multiome | 779 | |
| chr12:110,431,453–110,431,925 | 182.5 kb | Distal (>10kb) Multiome | 461 | |
| chr12:110,449,732–110,450,544 | 163.8 kb | Distal (>10kb) Multiome | 883 | |
| chr12:110,468,018–110,469,597 | 144.8 kb | Distal (>10kb) Multiome | 1093 | |
| chr12:110,501,642–110,502,585 | 112.0 kb | Distal (>10kb) Multiome | 1115 | |
| chr12:110,582,284–110,583,969 | 30.8 kb | Distal (>10kb) Multiome | 740 | |
| chr12:110,613,705–110,614,482 | 82 bp | At TSS Multiome | 791 | |
| chr12:110,688,496–110,690,180 | 75.1 kb | Distal (>10kb) Multiome | 414 | |
| chr12:110,742,238–110,743,370 | 128.9 kb | Distal (>10kb) Multiome | 801 | |
| chr12:110,772,664–110,773,461 | 158.9 kb | Distal (>10kb) Multiome | 88 | |
| chr12:110,846,588–110,847,239 | 232.7 kb | Distal (>10kb) Multiome | 371 | |
| chr12:110,860,936–110,861,527 | 247.1 kb | Distal (>10kb) Multiome | 127 |
Genomic view of the TCTN1 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.