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 | 412 | 86 | 322 |
| Samples | 254 | 68 | 184 |
| Peptides | 202 | 40 | 164 |
Function
PPM1D · Protein phosphatase, Mg2+/Mn2+ dependent 1D
The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000305921 | O15297 | 266 | 195 |
| ENST00000629650 | A0A8J9C7E3* | 143 | 110 |
| ENST00000392995 | O15297-2 | 3 | 1 |
Gene Properties
Recurrent Mutations
All 195 amino-acid changes on canonical ENST00000305921 · 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 PPM1D · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PPM1D – 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 | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 13/612 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Melanoma | 9/210 4% | 20/1899 1% |
| Colorectal Carcinoma | 7/143 5% | 33/3239 1% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 9/1390 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Other Solid Cancers | 1/94 1% | 16/1515 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Bladder Carcinoma | 1/58 2% | 7/956 1% |
| Neuroendocrine Tumour | 3/154 2% | 2/577 0% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Hepatocellular Carcinoma | 1/46 2% | 13/2210 1% |
| Ovarian Carcinoma | 5/109 5% | 1/998 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Gastric Carcinoma | 0/74 0% | 8/1809 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Breast Carcinoma | 2/144 1% | 10/3264 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Glioma | 1/52 2% | 6/2127 0% |
Mutation Distribution
Where PPM1D is mutated · all tissues, split by cell line vs tissue
How many mutations in PPM1D 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 412 mutations in PPM1D
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 |
|---|