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 | 501 | 63 | 430 |
| Samples | 86 | 17 | 67 |
| Peptides | 74 | 15 | 59 |
Function
CRYAB · Crystallin alpha B
Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019].
Isoforms & Proteins
10 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000526180 | P02511 | 62 | 53 |
| ENST00000227251 | P02511 | 61 | 52 |
| ENST00000527950 | P02511 | 61 | 52 |
| ENST00000531198 | P02511 | 61 | 52 |
| ENST00000533475 | P02511 | 61 | 52 |
| ENST00000616970 | P02511 | 61 | 52 |
| ENST00000533971 | E9PRA8* | 52 | 40 |
| ENST00000525823 | A0A024R3B9* | 36 | 30 |
| ENST00000533280 | A0A024R3B9* | 36 | 30 |
| ENST00000650687 | P02511 | 10 | 10 |
Gene Properties
Recurrent Mutations
All 53 amino-acid changes on canonical ENST00000526180 · 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 CRYAB · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CRYAB – 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 | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 10/612 2% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Colorectal Carcinoma | 4/143 3% | 12/3239 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Gastric Carcinoma | 0/74 0% | 8/1809 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 6/1390 0% |
| Melanoma | 1/210 0% | 6/1899 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Glioma | 1/52 2% | 2/2127 0% |
| Other Blood Cancers | 0/61 0% | 4/2725 0% |
| Bladder Carcinoma | 1/58 2% | 0/956 0% |
| Breast Carcinoma | 3/144 2% | 0/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 2/2640 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 0/1592 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 1/2550 0% |
| Hepatocellular Carcinoma | 0/46 0% | 1/2210 0% |
Mutation Distribution
Where CRYAB is mutated · all tissues, split by cell line vs tissue
How many mutations in CRYAB 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 501 mutations in CRYAB
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 |
|---|