This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]
Transcription factors with Perturb-seq knockdown data for CEP43. 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 = CEP43 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 CEP43, 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 |
|---|---|---|---|---|
| chr6:166,862,101–166,863,325 | 136.7 kb | Distal (>10kb) Multiome | 356 | |
| chr6:166,892,557–166,893,068 | 106.5 kb | Distal (>10kb) Multiome | 11 | |
| chr6:166,949,735–166,950,229 | 49.4 kb | Distal (>10kb) Multiome | 130 | |
| chr6:166,955,870–166,957,689 | 42.7 kb | Distal (>10kb) Multiome | 930 | |
| chr6:166,997,827–166,999,955 | 74 bp | At TSS Multiome | 929 | |
| chr6:167,146,776–167,147,442 | 147.8 kb | Distal (>10kb) Multiome | 130 | |
| chr6:167,163,221–167,164,006 | 164.3 kb | Distal (>10kb) Multiome | 240 | |
| chr6:167,227,814–167,228,643 | 228.8 kb | Distal (>10kb) Multiome | 140 | |
| chr6:167,244,852–167,245,449 | 245.8 kb | Distal (>10kb) Multiome | 56 | |
| chr6:167,272,179–167,273,192 | 273.4 kb | Distal (>10kb) Multiome | 134 |
Genomic view of the CEP43 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.