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 | 859 | 100 | 742 |
| Samples | 252 | 47 | 200 |
| Peptides | 244 | 36 | 212 |
Function
PAX2 · Paired box 2
PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014].
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 |
|---|---|---|---|
| ENST00000355243 | Q02962-3 | 230 | 176 |
| ENST00000428433 | Q02962 | 219 | 177 |
| ENST00000370296 | Q02962-4 | 208 | 165 |
| ENST00000361791 | A0A0A0MRH7* | 201 | 163 |
| ENST00000707079 | A0A9L9PXU6* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 176 amino-acid changes on canonical ENST00000355243 · 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 PAX2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PAX2 – 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 |
|---|---|---|
| Endometrial Carcinoma | 4/42 10% | 11/612 2% |
| Melanoma | 4/210 2% | 37/1899 2% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 19/1390 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 9/810 1% |
| Other Solid Cancers | 0/94 0% | 18/1515 1% |
| Colorectal Carcinoma | 6/143 4% | 30/3239 1% |
| Other Sarcomas | 6/69 9% | 2/699 0% |
| Rhabdomyosarcoma | 1/33 3% | 1/171 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Neuroendocrine Tumour | 2/154 1% | 4/577 1% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Head and Neck Carcinoma | 3/85 4% | 5/1574 0% |
| Ovarian Carcinoma | 2/109 2% | 3/998 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 2/1592 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 5/2550 0% |
| B-Lymphoblastic Leukemia | 4/55 7% | 1/2640 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 3/2534 0% |
| Other Blood Cancers | 0/61 0% | 5/2725 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Glioma | 0/52 0% | 2/2127 0% |
Mutation Distribution
Where PAX2 is mutated · all tissues, split by cell line vs tissue
How many mutations in PAX2 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 44 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 859 mutations in PAX2
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 |
|---|