This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Transcription factors with Perturb-seq knockdown data for TTC8. 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 = TTC8 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 TTC8, 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 |
|---|---|---|---|---|
| chr14:88,551,095–88,552,499 | 273.1 kb | Distal (>10kb) Multiome | 512 | |
| chr14:88,554,467–88,555,337 | 269.8 kb | Distal (>10kb) Multiome | 594 | |
| chr14:88,562,461–88,563,844 | 261.5 kb | Distal (>10kb) Multiome | 904 | |
| chr14:88,682,305–88,683,364 | 141.9 kb | Distal (>10kb) Multiome | 210 | |
| chr14:88,791,992–88,793,502 | 31.8 kb | Distal (>10kb) Multiome | 611 | |
| chr14:88,824,077–88,825,117 | 93 bp | At TSS Multiome | 798 | |
| chr14:88,978,957–88,979,452 | 154.4 kb | Distal (>10kb) Multiome | 182 | |
| chr14:89,011,860–89,013,394 | 187.6 kb | Distal (>10kb) Multiome | 405 | |
| chr14:89,026,793–89,028,061 | 202.8 kb | Distal (>10kb) Multiome | 495 | |
| chr14:89,040,230–89,041,239 | 216.0 kb | Distal (>10kb) Multiome | 745 |
Genomic view of the TTC8 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.