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 | 1,178 | 181 | 946 |
| Samples | 398 | 87 | 303 |
| Peptides | 329 | 65 | 258 |
Function
PLEKHM2 · Pleckstrin homology and RUN domain containing M2
This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017].
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 |
|---|---|---|---|
| ENST00000375799 | Q8IWE5 | 440 | 322 |
| ENST00000375793 | Q8IWE5-2 | 371 | 290 |
| ENST00000642363 | A0A2R8Y575* | 367 | 286 |
Gene Properties
Recurrent Mutations
All 323 amino-acid changes on canonical ENST00000375799 · 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 PLEKHM2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PLEKHM2 – 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 | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 20/612 3% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Burkitts Lymphoma | 1/32 3% | 5/196 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Melanoma | 6/210 3% | 40/1899 2% |
| Colorectal Carcinoma | 10/143 7% | 50/3239 2% |
| Adrenocortical Carcinoma | 2/3 67% | 0/112 0% |
| Gastric Carcinoma | 5/74 7% | 24/1809 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Non-Cancerous | 1/104 1% | 11/830 1% |
| Other Solid Cancers | 3/94 3% | 17/1515 1% |
| Bladder Carcinoma | 2/58 3% | 10/956 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 13/1390 1% |
| Other Sarcomas | 2/69 3% | 6/699 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 15/1592 1% |
| Plasma Cell Myeloma | 0/44 0% | 3/305 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 5/810 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 15/2550 1% |
| Hepatocellular Carcinoma | 1/46 2% | 12/2210 1% |
| Glioma | 1/52 2% | 11/2127 1% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Head and Neck Carcinoma | 2/85 2% | 6/1574 0% |
| Breast Carcinoma | 3/144 2% | 11/3264 0% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
Mutation Distribution
Where PLEKHM2 is mutated · all tissues, split by cell line vs tissue
How many mutations in PLEKHM2 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 1,178 mutations in PLEKHM2
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 |
|---|