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 | 6,580 | 511 | 5,985 |
| Samples | 1,025 | 132 | 875 |
| Peptides | 517 | 78 | 450 |
Function
ERBB2 · Erb-b2 receptor tyrosine kinase 2
This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
7 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 485 amino-acid changes on canonical ENST00000269571 · 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 ERBB2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ERBB2 – 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 | 8/40 20% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 18/133 14% |
| Bladder Carcinoma | 8/58 14% | 96/956 10% |
| Endometrial Carcinoma | 10/42 24% | 33/612 5% |
| Gastric Carcinoma | 4/74 5% | 90/1809 5% |
| Colorectal Carcinoma | 20/143 14% | 124/3239 4% |
| Cervical Carcinoma | 0/35 0% | 19/422 4% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Rhabdomyosarcoma | 1/33 3% | 7/171 4% |
| Melanoma | 4/210 2% | 78/1899 4% |
| Biliary Tract Carcinoma | 2/54 4% | 28/950 3% |
| Breast Carcinoma | 1/144 1% | 95/3264 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Other Solid Cancers | 0/94 0% | 37/1515 2% |
| Esophageal Carcinoma | 2/23 9% | 16/769 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Non-Cancerous | 0/104 0% | 20/830 2% |
| Non-Small Cell Lung Carcinoma | 20/304 7% | 16/1390 1% |
| Neuroendocrine Tumour | 8/154 5% | 7/577 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Head and Neck Carcinoma | 4/85 5% | 26/1574 2% |
| Ovarian Carcinoma | 7/109 6% | 11/998 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 8/810 1% |
| Pancreatic Carcinoma | 0/89 0% | 21/1611 1% |
| Other Sarcomas | 2/69 3% | 7/699 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 8/752 1% |
| Glioma | 0/52 0% | 21/2127 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 24/2550 1% |
| Medulloblastoma | 0/0 0% | 4/450 1% |
Mutation Distribution
Where ERBB2 is mutated · all tissues, split by cell line vs tissue
How many mutations in ERBB2 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 6,580 mutations in ERBB2
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 |
|---|