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 | 1,351 | 179 | 1,156 |
| Samples | 1,173 | 155 | 1,003 |
| Peptides | 488 | 82 | 450 |
Function
PTEN · Phosphatase and tensin homolog
This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015].
Isoforms & Proteins
3 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 486 amino-acid changes on canonical ENST00000371953 · 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 PTEN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PTEN – 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 | 10/42 24% | 194/612 32% |
| Glioblastoma | 19/98 19% | 0/0 0% |
| T-Lymphoblastic Leukemia | 5/40 12% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Glioma | 8/52 15% | 142/2127 7% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Chordoma | 0/7 0% | 1/13 8% |
| Melanoma | 6/210 3% | 81/1899 4% |
| Other Sarcomas | 7/69 10% | 24/699 3% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 31/810 4% |
| Cervical Carcinoma | 0/35 0% | 17/422 4% |
| Burkitts Lymphoma | 0/32 0% | 7/196 4% |
| Colorectal Carcinoma | 15/143 10% | 82/3239 3% |
| Small Cell Lung Carcinoma | 2/9 22% | 16/752 2% |
| Neuroendocrine Tumour | 11/154 7% | 6/577 1% |
| Breast Carcinoma | 13/144 9% | 64/3264 2% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Ovarian Carcinoma | 7/109 6% | 15/998 2% |
| Gastric Carcinoma | 2/74 3% | 32/1809 2% |
| Kidney Carcinoma | 0/85 0% | 35/1862 2% |
| Other Blood Cancers | 3/61 5% | 47/2725 2% |
| Bladder Carcinoma | 4/58 7% | 14/956 1% |
| Prostate Carcinoma | 1/13 8% | 35/2105 2% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Head and Neck Carcinoma | 5/85 6% | 20/1574 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 17/1390 1% |
| Hepatocellular Carcinoma | 3/46 7% | 24/2210 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Medulloblastoma | 0/0 0% | 5/450 1% |
Mutation Distribution
Where PTEN is mutated · all tissues, split by cell line vs tissue
How many mutations in PTEN 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 1,351 mutations in PTEN
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 |
|---|