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 | 469 | 97 | 360 |
| Samples | 444 | 94 | 341 |
| Peptides | 308 | 63 | 256 |
Function
RAG2 · Recombination activating 2
This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [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 |
|---|---|---|---|
| ENST00000311485 | P55895 | 469 | 308 |
Gene Properties
Recurrent Mutations
All 308 amino-acid changes on canonical ENST00000311485 · 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 RAG2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RAG2 – 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 | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 23/612 4% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Melanoma | 7/210 3% | 67/1899 4% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 16/810 2% |
| Non-Small Cell Lung Carcinoma | 15/304 5% | 26/1390 2% |
| Small Cell Lung Carcinoma | 2/9 22% | 14/752 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Burkitts Lymphoma | 3/32 9% | 1/196 1% |
| Gastric Carcinoma | 1/74 1% | 30/1809 2% |
| Other Solid Cancers | 1/94 1% | 25/1515 2% |
| Esophageal Carcinoma | 0/23 0% | 9/769 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Colorectal Carcinoma | 6/143 4% | 29/3239 1% |
| Hepatocellular Carcinoma | 2/46 4% | 21/2210 1% |
| Bladder Carcinoma | 2/58 3% | 7/956 1% |
| Cervical Carcinoma | 3/35 9% | 1/422 0% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Biliary Tract Carcinoma | 1/54 2% | 7/950 1% |
| Other Sarcomas | 5/69 7% | 1/699 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Head and Neck Carcinoma | 3/85 4% | 9/1574 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 13/2550 1% |
| Non-Cancerous | 0/104 0% | 6/830 1% |
| Neuroendocrine Tumour | 3/154 2% | 1/577 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Glioma | 0/52 0% | 10/2127 0% |
| Ovarian Carcinoma | 2/109 2% | 3/998 0% |
| Breast Carcinoma | 4/144 3% | 10/3264 0% |
Mutation Distribution
Where RAG2 is mutated · all tissues, split by cell line vs tissue
How many mutations in RAG2 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 22 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 469 mutations in RAG2
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 |
|---|