Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 1,104 | 230 | 855 |
| Samples | 883 | 197 | 672 |
| Peptides | 747 | 150 | 610 |
Function
CCDC88C · Coiled-coil and HOOK domain protein 88C
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].
Isoforms & Proteins
3 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 736 amino-acid changes on canonical ENST00000389857 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in CCDC88C · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CCDC88C – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 10/40 25% | 0/0 0% |
| Acute Myeloid Leukemia | 7/90 8% | 0/0 0% |
| Melanoma | 22/210 10% | 127/1899 7% |
| Endometrial Carcinoma | 6/42 14% | 39/612 6% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Colorectal Carcinoma | 19/143 13% | 100/3239 3% |
| Non-Small Cell Lung Carcinoma | 30/304 10% | 22/1390 2% |
| Gastric Carcinoma | 5/74 7% | 49/1809 3% |
| Bladder Carcinoma | 3/58 5% | 24/956 3% |
| Burkitts Lymphoma | 3/32 9% | 3/196 2% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Other Solid Cancers | 5/94 5% | 31/1515 2% |
| Neuroendocrine Tumour | 9/154 6% | 6/577 1% |
| Rhabdomyosarcoma | 3/33 9% | 1/171 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 14/810 2% |
| Thyroid Gland Carcinoma | 3/45 7% | 27/1592 2% |
| Other Sarcomas | 4/69 6% | 10/699 1% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Hepatocellular Carcinoma | 3/46 7% | 32/2210 1% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Osteosarcoma | 1/45 2% | 2/166 1% |
| Non-Cancerous | 2/104 2% | 11/830 1% |
| Ovarian Carcinoma | 7/109 6% | 8/998 1% |
| Pancreatic Carcinoma | 1/89 1% | 18/1611 1% |
| Biliary Tract Carcinoma | 0/54 0% | 11/950 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Head and Neck Carcinoma | 1/85 1% | 16/1574 1% |
Mutation Distribution
Where CCDC88C is mutated · all tissues, split by cell line vs tissue
How many mutations in CCDC88C were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 1,104 mutations in CCDC88C
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|