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 | 3,846 | 261 | 3,556 |
| Samples | 482 | 58 | 419 |
| Peptides | 395 | 46 | 362 |
Function
PAX5 · Paired box 5
This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013].
Isoforms & Proteins
12 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 |
|---|---|---|---|
| ENST00000358127 | Q02548 | 470 | 267 |
| ENST00000377852 | Q02548-6 | 406 | 239 |
| ENST00000414447 | Q02548-8 | 393 | 232 |
| ENST00000377853 | Q02548-2 | 391 | 236 |
| ENST00000523241 | E7EQT0* | 380 | 215 |
| ENST00000377847 | Q02548-7 | 361 | 215 |
| ENST00000520281 | Q02548-9 | 348 | 208 |
| ENST00000520154 | E7ERW5* | 345 | 194 |
| ENST00000446742 | Q02548-10 | 316 | 190 |
| ENST00000522003 | E7ERK2* | 255 | 178 |
| ENST00000523145 | E7ES87* | 180 | 133 |
| ENST00000377840 | Q02548-5 | 1 | 1 |
Gene Properties
Recurrent Mutations
All 267 amino-acid changes on canonical ENST00000358127 · 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 PAX5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PAX5 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 7/133 5% |
| Chordoma | 1/7 14% | 0/13 0% |
| Endometrial Carcinoma | 7/42 17% | 18/612 3% |
| Hodgkins Lymphoma | 0/16 0% | 5/122 4% |
| B-Lymphoblastic Leukemia | 4/55 7% | 70/2640 3% |
| Melanoma | 4/210 2% | 53/1899 3% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 21/1390 2% |
| Other Solid Cancers | 0/94 0% | 28/1515 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 14/810 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 12/752 2% |
| Colorectal Carcinoma | 5/143 4% | 43/3239 1% |
| Esophageal Carcinoma | 0/23 0% | 9/769 1% |
| Gastric Carcinoma | 2/74 3% | 19/1809 1% |
| Other Sarcomas | 4/69 6% | 4/699 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Burkitts Lymphoma | 0/32 0% | 2/196 1% |
| Head and Neck Carcinoma | 0/85 0% | 13/1574 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 16/2550 1% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 14/2534 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Prostate Carcinoma | 2/13 15% | 8/2105 0% |
| Breast Carcinoma | 5/144 3% | 11/3264 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 7/1592 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Other Blood Cancers | 2/61 3% | 8/2725 0% |
| Neuroblastoma | 1/87 1% | 4/1331 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
Mutation Distribution
Where PAX5 is mutated · all tissues, split by cell line vs tissue
How many mutations in PAX5 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 3,846 mutations in PAX5
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 |
|---|