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 | 670 | 107 | 557 |
| Samples | 346 | 68 | 274 |
| Peptides | 228 | 41 | 195 |
Function
RAF1 · Raf-1 proto-oncogene, serine/threonine kinase
This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008].
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 221 amino-acid changes on canonical ENST00000251849 · 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 RAF1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RAF1 – 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 | 3/40 8% | 0/0 0% |
| Melanoma | 12/210 6% | 49/1899 3% |
| Endometrial Carcinoma | 0/42 0% | 18/612 3% |
| Germ Cell Tumour | 4/25 16% | 1/169 1% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Colorectal Carcinoma | 7/143 5% | 47/3239 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Gastric Carcinoma | 2/74 3% | 24/1809 1% |
| Burkitts Lymphoma | 0/32 0% | 3/196 2% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 12/1390 1% |
| Other Sarcomas | 3/69 4% | 4/699 1% |
| Other Solid Cancers | 4/94 4% | 9/1515 1% |
| Ovarian Carcinoma | 5/109 5% | 3/998 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Head and Neck Carcinoma | 6/85 7% | 5/1574 0% |
| Hepatocellular Carcinoma | 0/46 0% | 15/2210 1% |
| Cervical Carcinoma | 1/35 3% | 2/422 0% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Breast Carcinoma | 6/144 4% | 12/3264 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Pancreatic Carcinoma | 0/89 0% | 8/1611 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 8/2534 0% |
| Prostate Carcinoma | 0/13 0% | 6/2105 0% |
Mutation Distribution
Where RAF1 is mutated · all tissues, split by cell line vs tissue
How many mutations in RAF1 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 670 mutations in RAF1
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 |
|---|