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 | 11,775 | 730 | 10,988 |
| Samples | 2,949 | 321 | 2,612 |
| Peptides | 418 | 68 | 374 |
Function
BRAF · B-Raf proto-oncogene, serine/threonine kinase
This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000646891 | P15056 | 3,086 | 391 |
| ENST00000288602 | A0A2U3TZI2* | 2,881 | 378 |
| ENST00000644969 | A0A2R8Y8E0* | 2,875 | 375 |
| ENST00000496384 | H7C560* | 2,873 | 373 |
| ENST00000469930 | A0A2R8YES9* | 60 | 49 |
Gene Properties
Recurrent Mutations
All 391 amino-acid changes on canonical ENST00000646891 · 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 BRAF · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BRAF – 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 |
|---|---|---|
| Thyroid Gland Carcinoma | 20/45 44% | 747/1592 47% |
| Melanoma | 143/210 68% | 825/1899 43% |
| Colorectal Carcinoma | 45/143 31% | 351/3239 11% |
| Plasma Cell Myeloma | 2/44 5% | 26/305 9% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 18/304 6% | 69/1390 5% |
| Unknown | 0/10 0% | 2/29 7% |
| Non-Cancerous | 1/104 1% | 35/830 4% |
| Endometrial Carcinoma | 6/42 14% | 18/612 3% |
| Ovarian Carcinoma | 11/109 10% | 26/998 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Bladder Carcinoma | 1/58 2% | 30/956 3% |
| Biliary Tract Carcinoma | 6/54 11% | 24/950 3% |
| Glioma | 4/52 8% | 59/2127 3% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 69/2534 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Gastric Carcinoma | 2/74 3% | 36/1809 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 16/810 2% |
| Other Solid Cancers | 0/94 0% | 31/1515 2% |
| Neuroendocrine Tumour | 4/154 3% | 10/577 2% |
| Small Cell Lung Carcinoma | 2/9 22% | 12/752 2% |
| Other Sarcomas | 7/69 10% | 7/699 1% |
| Other Blood Cancers | 3/61 5% | 44/2725 2% |
| Breast Carcinoma | 10/144 7% | 37/3264 1% |
| Head and Neck Carcinoma | 2/85 2% | 20/1574 1% |
| Medulloblastoma | 0/0 0% | 6/450 1% |
| Prostate Carcinoma | 2/13 15% | 26/2105 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 28/2550 1% |
| Cervical Carcinoma | 2/35 6% | 3/422 1% |
Mutation Distribution
Where BRAF is mutated · all tissues, split by cell line vs tissue
How many mutations in BRAF 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 11,775 mutations in BRAF
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 |
|---|