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 | 340 | 80 | 256 |
| Samples | 173 | 46 | 125 |
| Peptides | 138 | 33 | 110 |
Function
GNB3 · G protein subunit beta 3
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014].
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 131 amino-acid changes on canonical ENST00000229264 · 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 GNB3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GNB3 – 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 | 6/40 15% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Hodgkins Lymphoma | 3/16 19% | 0/122 0% |
| Endometrial Carcinoma | 2/42 5% | 8/612 1% |
| Melanoma | 4/210 2% | 20/1899 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Colorectal Carcinoma | 8/143 6% | 26/3239 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 7/1390 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Other Solid Cancers | 2/94 2% | 5/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 5/2550 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Gastric Carcinoma | 0/74 0% | 5/1809 0% |
| Glioma | 1/52 2% | 4/2127 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 3/1592 0% |
| Breast Carcinoma | 0/144 0% | 5/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Prostate Carcinoma | 1/13 8% | 2/2105 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
Mutation Distribution
Where GNB3 is mutated · all tissues, split by cell line vs tissue
How many mutations in GNB3 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 340 mutations in GNB3
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 |
|---|