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 | 309 | 51 | 250 |
| Samples | 205 | 42 | 157 |
| Peptides | 151 | 30 | 119 |
Function
VAX1 · Ventral anterior homeobox 1
This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [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 114 amino-acid changes on canonical ENST00000369206 · 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 VAX1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in VAX1 – 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 |
|---|---|---|
| Glioblastoma | 4/98 4% | 0/0 0% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 13/1390 1% |
| Endometrial Carcinoma | 0/42 0% | 8/612 1% |
| Colorectal Carcinoma | 6/143 4% | 28/3239 1% |
| Gastric Carcinoma | 2/74 3% | 16/1809 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 15/1592 1% |
| Cervical Carcinoma | 1/35 3% | 3/422 1% |
| Other Solid Cancers | 0/94 0% | 14/1515 1% |
| Melanoma | 3/210 1% | 13/1899 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 3/810 0% |
| Hepatocellular Carcinoma | 1/46 2% | 8/2210 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 4/2534 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| B-Lymphoblastic Leukemia | 4/55 7% | 1/2640 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Prostate Carcinoma | 1/13 8% | 2/2105 0% |
| Breast Carcinoma | 2/144 1% | 2/3264 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Kidney Carcinoma | 1/85 1% | 1/1862 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
Mutation Distribution
Where VAX1 is mutated · all tissues, split by cell line vs tissue
How many mutations in VAX1 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 20 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 309 mutations in VAX1
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 |
|---|