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 | 2,615 | 358 | 2,215 |
| Samples | 1,134 | 197 | 931 |
| Peptides | 982 | 155 | 844 |
Function
PLCE1 · Phospholipase C epsilon 1
This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009].
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 |
|---|---|---|---|
| ENST00000371380 | Q9P212 | 1,363 | 918 |
| ENST00000371375 | Q9P212-2 | 979 | 691 |
| ENST00000371385 | A0A7I2PPM5* | 273 | 202 |
Gene Properties
Recurrent Mutations
All 918 amino-acid changes on canonical ENST00000371380 · 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 PLCE1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PLCE1 – 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 | 8/40 20% | 0/0 0% |
| Melanoma | 19/210 9% | 194/1899 10% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Endometrial Carcinoma | 12/42 29% | 47/612 8% |
| Hodgkins Lymphoma | 6/16 38% | 3/122 2% |
| Other Solid Cancers | 2/94 2% | 69/1515 5% |
| Non-Small Cell Lung Carcinoma | 21/304 7% | 49/1390 4% |
| Colorectal Carcinoma | 26/143 18% | 111/3239 3% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 29/810 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Cervical Carcinoma | 0/35 0% | 13/422 3% |
| Neuroendocrine Tumour | 11/154 7% | 9/577 2% |
| Gastric Carcinoma | 1/74 1% | 46/1809 3% |
| Bladder Carcinoma | 5/58 9% | 19/956 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Head and Neck Carcinoma | 3/85 4% | 31/1574 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Other Sarcomas | 3/69 4% | 10/699 1% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 36/2550 1% |
| Small Cell Lung Carcinoma | 1/9 11% | 11/752 1% |
| Hepatocellular Carcinoma | 3/46 7% | 32/2210 1% |
| Biliary Tract Carcinoma | 1/54 2% | 14/950 1% |
| B-Cell Non-Hodgkins Lymphoma | 10/88 11% | 28/2534 1% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Non-Cancerous | 0/104 0% | 13/830 2% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Breast Carcinoma | 10/144 7% | 33/3264 1% |
| Glioma | 0/52 0% | 26/2127 1% |
| Ovarian Carcinoma | 5/109 5% | 8/998 1% |
| Plasma Cell Myeloma | 2/44 5% | 2/305 1% |
Mutation Distribution
Where PLCE1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PLCE1 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 2,615 mutations in PLCE1
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 |
|---|