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 | 5,961 | 1,121 | 4,777 |
| Samples | 3,912 | 670 | 3,194 |
| Peptides | 3,870 | 644 | 3,381 |
Function
RYR2 · Ryanodine receptor 2
This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008].
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 |
|---|---|---|---|
| ENST00000366574 | Q92736 | 5,961 | 3,870 |
Gene Properties
Recurrent Mutations
All 2500 amino-acid changes on canonical ENST00000366574 · 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 RYR2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RYR2 – 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 | 17/40 42% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 139/304 46% | 365/1390 26% |
| Squamous Cell Lung Carcinoma | 29/57 51% | 218/810 27% |
| Endometrial Carcinoma | 21/42 50% | 111/612 18% |
| Small Cell Lung Carcinoma | 4/9 44% | 138/752 18% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Melanoma | 41/210 20% | 280/1899 15% |
| Other Solid Cancers | 20/94 21% | 176/1515 12% |
| Colorectal Carcinoma | 56/143 39% | 348/3239 11% |
| Gastric Carcinoma | 17/74 23% | 206/1809 11% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Neuroendocrine Tumour | 52/154 34% | 18/577 3% |
| Bladder Carcinoma | 15/58 26% | 76/956 8% |
| Cervical Carcinoma | 6/35 17% | 34/422 8% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 11/133 8% |
| Chondrosarcoma | 4/14 29% | 3/75 4% |
| Head and Neck Carcinoma | 6/85 7% | 118/1574 8% |
| Esophageal Carcinoma | 1/23 4% | 58/769 8% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 16/51 31% | 173/2550 7% |
| Hodgkins Lymphoma | 4/16 25% | 6/122 5% |
| Plasma Cell Myeloma | 11/44 25% | 14/305 5% |
| Hepatocellular Carcinoma | 13/46 28% | 137/2210 6% |
| Biliary Tract Carcinoma | 8/54 15% | 55/950 6% |
| Other Sarcomas | 13/69 19% | 31/699 4% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Glioma | 6/52 12% | 108/2127 5% |
| Chordoma | 0/7 0% | 1/13 8% |
| Mesothelioma | 5/62 8% | 6/165 4% |
| Ovarian Carcinoma | 16/109 15% | 37/998 4% |
Mutation Distribution
Where RYR2 is mutated · all tissues, split by cell line vs tissue
How many mutations in RYR2 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 5,961 mutations in RYR2
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 |
|---|