Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly, telecanthus and anogenital and renal malformations. The protein encoded by this gene contains a cyclin-box-fold domain which suggests it may have a role in controlling nuclear cell division cycles. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for CCNQ. 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 = CCNQ 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 CCNQ, 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 |
|---|---|---|---|---|
| chrX:153,333,932–153,334,640 | 265.0 kb | Distal (>10kb) Multiome | 433 | |
| chrX:153,469,901–153,471,108 | 128.4 kb | Distal (>10kb) Multiome | 508 | |
| chrX:153,598,511–153,599,722 | 151 bp | At TSS Multiome | 459 | |
| chrX:153,609,905–153,610,354 | 11.0 kb | Distal (>10kb) Multiome | 404 | |
| chrX:153,687,144–153,688,247 | 88.6 kb | Distal (>10kb) Multiome | 201 | |
| chrX:153,723,829–153,725,285 | 125.5 kb | Distal (>10kb) Multiome | 620 | |
| chrX:153,726,395–153,727,168 | 127.8 kb | Distal (>10kb) Multiome | 529 | |
| chrX:153,793,808–153,795,045 | 195.3 kb | Distal (>10kb) Multiome | 733 | |
| chrX:153,875,415–153,875,856 | 276.5 kb | Distal (>10kb) Multiome | 847 | |
| chrX:153,878,887–153,879,684 | 280.1 kb | Distal (>10kb) Multiome | 235 |
Genomic view of the CCNQ 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.