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 | 1,405 | 187 | 1,185 |
| Samples | 1,168 | 151 | 1,008 |
| Peptides | 922 | 123 | 803 |
Function
NOTCH2 · Notch receptor 2
This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011].
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 |
|---|---|---|---|
| ENST00000256646 | Q04721 | 1,405 | 922 |
Gene Properties
Recurrent Mutations
All 922 amino-acid changes on canonical ENST00000256646 · 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 NOTCH2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NOTCH2 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 10/54 19% | 0/0 0% |
| T-Lymphoblastic Leukemia | 7/40 18% | 0/0 0% |
| Other Solid Cancers | 1/94 1% | 127/1515 8% |
| Endometrial Carcinoma | 7/42 17% | 42/612 7% |
| Melanoma | 16/210 8% | 111/1899 6% |
| Chordoma | 1/7 14% | 0/13 0% |
| Bladder Carcinoma | 2/58 3% | 47/956 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 16/304 5% | 48/1390 3% |
| Gastric Carcinoma | 3/74 4% | 61/1809 3% |
| Colorectal Carcinoma | 20/143 14% | 95/3239 3% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 29/810 4% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 12/422 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Thyroid Gland Carcinoma | 2/45 4% | 39/1592 2% |
| Neuroendocrine Tumour | 9/154 6% | 9/577 2% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 17/752 2% |
| Mesothelioma | 5/62 8% | 0/165 0% |
| Ovarian Carcinoma | 6/109 6% | 18/998 2% |
| Germ Cell Tumour | 0/25 0% | 4/169 2% |
| Head and Neck Carcinoma | 1/85 1% | 33/1574 2% |
| Breast Carcinoma | 9/144 6% | 51/3264 2% |
| Biliary Tract Carcinoma | 0/54 0% | 17/950 2% |
| Other Sarcomas | 2/69 3% | 11/699 2% |
| Hepatocellular Carcinoma | 0/46 0% | 36/2210 2% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 36/2550 1% |
| Esophageal Carcinoma | 0/23 0% | 11/769 1% |
Mutation Distribution
Where NOTCH2 is mutated · all tissues, split by cell line vs tissue
How many mutations in NOTCH2 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 1,405 mutations in NOTCH2
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 |
|---|