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 | 250 | 47 | 197 |
| Samples | 234 | 41 | 188 |
| Peptides | 168 | 29 | 140 |
Function
CAVIN1 · Caveolae associated protein 1
This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009].
Isoforms & Proteins
1 transcript · 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000357037 | Q6NZI2 | 250 | 168 |
Gene Properties
Recurrent Mutations
All 168 amino-acid changes on canonical ENST00000357037 · 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 CAVIN1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CAVIN1 – 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 | 6/40 15% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 11/612 2% |
| Gastric Carcinoma | 2/74 3% | 28/1809 2% |
| Colorectal Carcinoma | 10/143 7% | 43/3239 1% |
| Plasma Cell Myeloma | 2/44 5% | 2/305 1% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 7/1390 0% |
| Melanoma | 3/210 1% | 14/1899 1% |
| Bladder Carcinoma | 1/58 2% | 6/956 1% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Other Solid Cancers | 0/94 0% | 8/1515 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Head and Neck Carcinoma | 2/85 2% | 4/1574 0% |
| Breast Carcinoma | 3/144 2% | 7/3264 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Kidney Carcinoma | 1/85 1% | 3/1862 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 3/2534 0% |
Mutation Distribution
Where CAVIN1 is mutated · all tissues, split by cell line vs tissue
How many mutations in CAVIN1 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 250 mutations in CAVIN1
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 |
|---|