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 | 126 | 10 | 115 |
| Samples | 67 | 7 | 59 |
| Peptides | 53 | 6 | 47 |
Function
CALM2 · Calmodulin 2
This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015].
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 47 amino-acid changes on canonical ENST00000272298 · 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 CALM2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CALM2 – 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 |
|---|---|---|
| Endometrial Carcinoma | 3/42 7% | 6/612 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Melanoma | 0/210 0% | 6/1899 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Breast Carcinoma | 0/144 0% | 4/3264 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 1/2534 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Hepatocellular Carcinoma | 0/46 0% | 2/2210 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 1/1390 0% |
| Colorectal Carcinoma | 1/143 1% | 1/3239 0% |
| Glioma | 0/52 0% | 1/2127 0% |
Mutation Distribution
Where CALM2 is mutated · all tissues, split by cell line vs tissue
How many mutations in CALM2 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 126 mutations in CALM2
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 |
|---|