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 | 2,543 | 346 | 2,178 |
| Samples | 2,117 | 283 | 1,820 |
| Peptides | 1,350 | 218 | 1,179 |
Function
NOTCH1 · Notch receptor 1
This gene encodes a member of the NOTCH family of proteins. Members of this Type I 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 signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000651671 | P46531 | 2,540 | 1,347 |
| ENST00000680778 | A0A7P0TA56* | 3 | 3 |
Gene Properties
Recurrent Mutations
All 1347 amino-acid changes on canonical ENST00000651671 · 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 NOTCH1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NOTCH1 – 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 | 16/40 40% | 0/0 0% |
| Other Solid Cancers | 5/94 5% | 306/1515 20% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| B-Lymphoblastic Leukemia | 7/55 13% | 231/2640 9% |
| Endometrial Carcinoma | 13/42 31% | 44/612 7% |
| Acute Monocytic Leukemia | 0/1 0% | 2/25 8% |
| Head and Neck Carcinoma | 5/85 6% | 121/1574 8% |
| Esophageal Squamous Cell Carcinoma | 13/51 25% | 180/2550 7% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Neuroendocrine Tumour | 18/154 12% | 33/577 6% |
| Esophageal Carcinoma | 2/23 9% | 47/769 6% |
| Melanoma | 11/210 5% | 106/1899 6% |
| Cervical Carcinoma | 3/35 9% | 22/422 5% |
| Colorectal Carcinoma | 27/143 19% | 151/3239 5% |
| Gastric Carcinoma | 7/74 9% | 84/1809 5% |
| Non-Small Cell Lung Carcinoma | 31/304 10% | 46/1390 3% |
| Thyroid Gland Carcinoma | 4/45 9% | 69/1592 4% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 28/810 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 29/752 4% |
| Germ Cell Tumour | 5/25 20% | 2/169 1% |
| Rhabdomyosarcoma | 2/33 6% | 5/171 3% |
| Other Sarcomas | 4/69 6% | 19/699 3% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 2/71 3% |
| Glioma | 2/52 4% | 56/2127 3% |
| Adrenocortical Carcinoma | 0/3 0% | 3/112 3% |
| Ewings Sarcoma | 6/63 10% | 2/262 1% |
| Plasma Cell Myeloma | 2/44 5% | 6/305 2% |
Mutation Distribution
Where NOTCH1 is mutated · all tissues, split by cell line vs tissue
How many mutations in NOTCH1 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 2,543 mutations in NOTCH1
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 |
|---|