This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
Transcription factors with Perturb-seq knockdown data for CCDC88C. 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 = CCDC88C 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 CCDC88C, 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 |
|---|---|---|---|---|
| chr14:91,252,762–91,254,136 | 164.5 kb | Distal (>10kb) Multiome | 429 | |
| chr14:91,264,238–91,265,162 | 153.2 kb | Distal (>10kb) Multiome | 276 | |
| chr14:91,302,942–91,304,213 | 114.4 kb | Distal (>10kb) Multiome HiCAR | 215 | |
| chr14:91,413,560–91,414,125 | 4.1 kb | Proximal (<10kb) Multiome | 171 | |
| chr14:91,417,256–91,419,093 | 1.2 kb | Proximal (<10kb) Multiome | 961 | |
| chr14:91,427,327–91,427,667 | 9.6 kb | Proximal (<10kb) | 94 | |
| chr14:91,509,196–91,511,114 | 92.7 kb | Distal (>10kb) Multiome | 1071 |
Genomic view of the CCDC88C 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.