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 | 238 | 30 | 201 |
| Samples | 230 | 29 | 195 |
| Peptides | 139 | 19 | 125 |
Function
CRYBB1 · Crystallin beta B1
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains 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 considered 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, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [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 |
|---|---|---|---|
| ENST00000647684 | P53674 | 238 | 139 |
Gene Properties
Recurrent Mutations
All 139 amino-acid changes on canonical ENST00000647684 · 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 CRYBB1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CRYBB1 – 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% |
| Melanoma | 5/210 2% | 28/1899 1% |
| Colorectal Carcinoma | 1/143 1% | 39/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 0/74 0% | 19/1809 1% |
| Other Solid Cancers | 1/94 1% | 11/1515 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 16/2550 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 7/1390 0% |
| Bladder Carcinoma | 1/58 2% | 5/956 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 4/810 0% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 5/1592 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Pancreatic Carcinoma | 0/89 0% | 5/1611 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Breast Carcinoma | 1/144 1% | 7/3264 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Cervical Carcinoma | 1/35 3% | 0/422 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 3/2640 0% |
| Hepatocellular Carcinoma | 1/46 2% | 3/2210 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
Mutation Distribution
Where CRYBB1 is mutated · all tissues, split by cell line vs tissue
How many mutations in CRYBB1 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 53 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 238 mutations in CRYBB1
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 |
|---|