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 | 174 | 36 | 136 |
| Samples | 164 | 35 | 127 |
| Peptides | 130 | 21 | 112 |
Function
CSN2 · Casein beta
This gene is a member of the beta casein family. There are two types of casein protein, beta (encoded by this gene) and kappa, both of which are secreted in human milk. Beta casein is the principal protein in human milk and the primary source of essential amino acids for a suckling infant. Beta and kappa casein proteins acting together form spherical micelles which bind within them important dietary minerals, such as calcium and phosphorous. In addition, the C-terminal 14 aa of the protein has antimicrobial activity, especially in preterm milk, displaying antibacterial activity against S. aureus and Y. enterocolitica. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020].
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 |
|---|---|---|---|
| ENST00000353151 | P05814 | 174 | 130 |
Gene Properties
Recurrent Mutations
All 130 amino-acid changes on canonical ENST00000353151 · 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 CSN2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CSN2 – 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 |
|---|---|---|
| Retinoblastoma | 1/27 4% | 1/30 3% |
| Melanoma | 1/210 0% | 36/1899 2% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 14/1390 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 6/810 1% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Endometrial Carcinoma | 3/42 7% | 2/612 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Neuroendocrine Tumour | 4/154 3% | 0/577 0% |
| Gastric Carcinoma | 1/74 1% | 7/1809 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Colorectal Carcinoma | 2/143 1% | 11/3239 0% |
| B-Cell Non-Hodgkins Lymphoma | 7/88 8% | 2/2534 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 7/2550 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Ovarian Carcinoma | 2/109 2% | 1/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Pancreatic Carcinoma | 1/89 1% | 2/1611 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Prostate Carcinoma | 2/13 15% | 1/2105 0% |
| Breast Carcinoma | 2/144 1% | 2/3264 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 3/2640 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
Mutation Distribution
Where CSN2 is mutated · all tissues, split by cell line vs tissue
How many mutations in CSN2 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 2 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 174 mutations in CSN2
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 |
|---|