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 | 1,714 | 228 | 1,453 |
| Samples | 318 | 65 | 245 |
| Peptides | 257 | 47 | 214 |
Function
PEX5 · Peroxisomal biogenesis factor 5
The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008].
Isoforms & Proteins
8 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 215 amino-acid changes on canonical ENST00000434354 · 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 PEX5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PEX5 – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 21/612 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Burkitts Lymphoma | 4/32 12% | 1/196 1% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Melanoma | 4/210 2% | 37/1899 2% |
| Retinoblastoma | 1/27 4% | 0/30 0% |
| Plasma Cell Myeloma | 2/44 5% | 3/305 1% |
| Neuroendocrine Tumour | 4/154 3% | 6/577 1% |
| Other Solid Cancers | 4/94 4% | 17/1515 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 28/2550 1% |
| Colorectal Carcinoma | 13/143 9% | 27/3239 1% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 5/810 1% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 5/1390 0% |
| Hepatocellular Carcinoma | 1/46 2% | 12/2210 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Glioma | 0/52 0% | 10/2127 0% |
| Ovarian Carcinoma | 3/109 3% | 2/998 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Bladder Carcinoma | 1/58 2% | 2/956 0% |
| Neuroblastoma | 0/87 0% | 4/1331 0% |
| Head and Neck Carcinoma | 1/85 1% | 3/1574 0% |
Mutation Distribution
Where PEX5 is mutated · all tissues, split by cell line vs tissue
How many mutations in PEX5 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 1,714 mutations in PEX5
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 |
|---|