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 | 653 | 97 | 537 |
| Samples | 338 | 62 | 269 |
| Peptides | 251 | 41 | 208 |
Function
GAB2 · GRB2 associated binding protein 2
This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009].
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 249 amino-acid changes on canonical ENST00000361507 · 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 GAB2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GAB2 – 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% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Endometrial Carcinoma | 2/42 5% | 21/612 3% |
| Hodgkins Lymphoma | 0/16 0% | 4/122 3% |
| Colorectal Carcinoma | 9/143 6% | 43/3239 1% |
| Cervical Carcinoma | 3/35 9% | 4/422 1% |
| Melanoma | 2/210 1% | 26/1899 1% |
| Gastric Carcinoma | 0/74 0% | 22/1809 1% |
| Bladder Carcinoma | 2/58 3% | 9/956 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 10/1390 1% |
| Other Solid Cancers | 0/94 0% | 16/1515 1% |
| Ovarian Carcinoma | 5/109 5% | 6/998 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Non-Cancerous | 1/104 1% | 7/830 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 18/2550 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Biliary Tract Carcinoma | 0/54 0% | 7/950 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 4/810 0% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Hepatocellular Carcinoma | 0/46 0% | 12/2210 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Breast Carcinoma | 3/144 2% | 13/3264 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Prostate Carcinoma | 2/13 15% | 8/2105 0% |
| Head and Neck Carcinoma | 1/85 1% | 6/1574 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
Mutation Distribution
Where GAB2 is mutated · all tissues, split by cell line vs tissue
How many mutations in GAB2 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 653 mutations in GAB2
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 |
|---|