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 | 164 | 52 | 112 |
| Samples | 94 | 38 | 56 |
| Peptides | 69 | 20 | 53 |
Function
CRYBA2 · Crystallin beta A2
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008].
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 69 amino-acid changes on canonical ENST00000295728 · 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 CRYBA2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CRYBA2 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Adrenocortical Carcinoma | 2/3 67% | 0/112 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 6/612 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Gastric Carcinoma | 2/74 3% | 11/1809 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Colorectal Carcinoma | 5/143 4% | 11/3239 0% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 2/1390 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Melanoma | 4/210 2% | 4/1899 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 1/810 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 5/2534 0% |
| Hepatocellular Carcinoma | 2/46 4% | 2/2210 0% |
| B-Lymphoblastic Leukemia | 4/55 7% | 0/2640 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Other Solid Cancers | 0/94 0% | 2/1515 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Breast Carcinoma | 2/144 1% | 1/3264 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Pancreatic Carcinoma | 1/89 1% | 0/1611 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| Glioma | 0/52 0% | 1/2127 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 1/2550 0% |
Mutation Distribution
Where CRYBA2 is mutated · all tissues, split by cell line vs tissue
How many mutations in CRYBA2 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 30 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 164 mutations in CRYBA2
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 |
|---|