This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for CEP104. 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 = CEP104 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 CEP104, 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 |
|---|---|---|---|---|
| chr1:3,610,667–3,612,281 | 245.6 kb | Distal (>10kb) Multiome | 361 | |
| chr1:3,624,289–3,625,883 | 232.3 kb | Distal (>10kb) Multiome | 814 | |
| chr1:3,649,785–3,650,304 | 207.1 kb | Distal (>10kb) Multiome | 620 | |
| chr1:3,651,921–3,653,136 | 204.4 kb | Distal (>10kb) Multiome | 369 | |
| chr1:3,746,744–3,747,607 | 109.8 kb | Distal (>10kb) Multiome | 523 | |
| chr1:3,771,515–3,773,363 | 84.6 kb | Distal (>10kb) Multiome | 733 | |
| chr1:3,793,373–3,793,897 | 63.5 kb | Distal (>10kb) Multiome | 182 | |
| chr1:3,795,866–3,796,907 | 60.7 kb | Distal (>10kb) Multiome | 835 | |
| chr1:3,856,527–3,858,218 | 113 bp | At TSS Multiome | 815 | |
| chr1:3,899,608–3,901,755 | 44.2 kb | Distal (>10kb) Multiome | 1026 | |
| chr1:3,910,694–3,911,367 | 53.8 kb | Distal (>10kb) Multiome | 321 | |
| chr1:5,771,235–5,771,777 | 1914.2 kb | Distal (>10kb) Multiome HiCAR | 90 |
Genomic view of the CEP104 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.