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 | 6,493 | 781 | 5,686 |
| Samples | 346 | 70 | 274 |
| Peptides | 322 | 51 | 277 |
Function
PAX6 · Paired box 6
This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019].
Isoforms & Proteins
26 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 |
|---|---|---|---|
| ENST00000640368 | P26367-2 | 336 | 211 |
| ENST00000379107 | P26367-2 | 298 | 204 |
| ENST00000379129 | P26367-2 | 298 | 204 |
| ENST00000419022 | P26367-2 | 298 | 204 |
| ENST00000606377 | P26367-2 | 298 | 204 |
| ENST00000639409 | P26367-2 | 298 | 204 |
| ENST00000640975 | P26367-2 | 298 | 204 |
| ENST00000643871 | P26367 | 293 | 200 |
| ENST00000241001 | P26367 | 292 | 199 |
| ENST00000379109 | P26367 | 292 | 199 |
| ENST00000379132 | P26367 | 292 | 199 |
| ENST00000639916 | P26367 | 292 | 199 |
| ENST00000640610 | P26367 | 292 | 199 |
| ENST00000638963 | A0A1W2PQG7* | 276 | 195 |
| ENST00000638696 | A0A1W2PS91* | 271 | 185 |
| ENST00000638755 | A0A1W2PQM7* | 265 | 180 |
| ENST00000640684 | A0A1W2PPN2* | 261 | 182 |
| ENST00000639034 | D1KF47* | 255 | 177 |
| ENST00000481563 | A0A1W2PRA8* | 195 | 122 |
| ENST00000638629 | A0A1W2PRA8* | 195 | 122 |
| ENST00000639386 | A0A1W2PRA8* | 195 | 122 |
| ENST00000639548 | A0A1W2PRA8* | 195 | 122 |
| ENST00000640125 | A0A1W2PRA8* | 195 | 122 |
| ENST00000638685 | A0A1W2PRH6* | 136 | 99 |
| ENST00000638965 | A0A1W2PSB5* | 130 | 85 |
| ENST00000638914 | P26367-2 | 47 | 39 |
Gene Properties
Recurrent Mutations
All 211 amino-acid changes on canonical ENST00000640368 · 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 PAX6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PAX6 – 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 | 2/42 5% | 19/612 3% |
| Other Solid Cancers | 0/94 0% | 43/1515 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 20/1390 1% |
| Melanoma | 3/210 1% | 31/1899 2% |
| Colorectal Carcinoma | 18/143 13% | 36/3239 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 8/810 1% |
| Gastric Carcinoma | 2/74 3% | 22/1809 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Neuroendocrine Tumour | 6/154 4% | 1/577 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 22/2550 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Head and Neck Carcinoma | 2/85 2% | 6/1574 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Neuroblastoma | 3/87 3% | 3/1331 0% |
| Prostate Carcinoma | 0/13 0% | 9/2105 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Glioma | 3/52 6% | 5/2127 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 7/2534 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 3/1592 0% |
| Breast Carcinoma | 2/144 1% | 5/3264 0% |
Mutation Distribution
Where PAX6 is mutated · all tissues, split by cell line vs tissue
How many mutations in PAX6 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 52 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 6,493 mutations in PAX6
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 |
|---|