Stats by Source
Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Global = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Global | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 1,728 | 169 | 1,242 |
| Samples | 155 | 35 | 116 |
| Peptides | 211 | 36 | 155 |
Function
VEGFA · Vascular endothelial growth factor A
This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. The levels of VEGF are increased during infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), thus promoting inflammation by facilitating recruitment of inflammatory cells, and by increasing the level of angiopoietin II (Ang II), one of two products of the SARS-CoV-2 binding target, angiotensin-converting enzyme 2 (ACE2). In turn, Ang II facilitates the elevation of VEGF, thus forming a vicious cycle in the release of inflammatory cytokines. [provided by RefSeq, Jun 2020].
Isoforms & Proteins
18 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 |
|---|---|---|---|
| ENST00000372055 | P15692-14 | 173 | 138 |
| ENST00000413642 | P15692-16 | 156 | 125 |
| ENST00000372067 | P15692-11 | 143 | 114 |
| ENST00000482630 | P15692-15 | 141 | 111 |
| ENST00000417285 | P15692-17 | 135 | 107 |
| ENST00000372064 | P15692-12 | 120 | 100 |
| ENST00000324450 | P15692-18 | 118 | 98 |
| ENST00000425836 | A0A0A0MSH5* | 113 | 94 |
| ENST00000523873 | P15692-1 | 90 | 73 |
| ENST00000520948 | P15692-2 | 80 | 65 |
| ENST00000518689 | P15692-3 | 77 | 62 |
| ENST00000523950 | P15692-4 | 65 | 52 |
| ENST00000518824 | P15692-8 | 64 | 50 |
| ENST00000230480 | A2A2V4* | 61 | 48 |
| ENST00000523125 | P15692-5 | 58 | 46 |
| ENST00000672860 | P15692 | 50 | 35 |
| ENST00000372077 | P15692-9 | 43 | 39 |
| ENST00000457104 | P15692-10 | 41 | 37 |
Gene Properties
Recurrent Mutations
Top recurrent amino-acid changes along the protein · needle height = number of mutations
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 Distribution
Where VEGFA is mutated · all tissues, split by cell line vs tissue
How many mutations in VEGFA 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 1,728 mutations in VEGFA
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 | Peptide |
|---|