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 | 197 | 27 | 166 |
| Samples | 104 | 19 | 83 |
| Peptides | 88 | 16 | 70 |
Function
CCNQ · Cyclin Q
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].
Isoforms & Proteins
2 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 82 amino-acid changes on canonical ENST00000576892 · 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 CCNQ · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CCNQ – 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 |
|---|---|---|
| Rhabdomyosarcoma | 0/33 0% | 6/171 4% |
| Endometrial Carcinoma | 0/42 0% | 11/612 2% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Colorectal Carcinoma | 3/143 2% | 19/3239 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 5/810 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Bladder Carcinoma | 2/58 3% | 3/956 0% |
| Melanoma | 1/210 0% | 9/1899 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Cervical Carcinoma | 2/35 6% | 0/422 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Gastric Carcinoma | 1/74 1% | 4/1809 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 1/1390 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Ovarian Carcinoma | 2/109 2% | 0/998 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
| Other Solid Cancers | 0/94 0% | 1/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 1/1574 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 1/2640 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 0/2550 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
Mutation Distribution
Where CCNQ is mutated · all tissues, split by cell line vs tissue
How many mutations in CCNQ 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.
Mutations
All 197 mutations in CCNQ
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 |
|---|