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 | 1,642 | 260 | 1,359 |
| Samples | 861 | 154 | 694 |
| Peptides | 758 | 110 | 660 |
Function
PIKFYVE · Phosphoinositide kinase, FYVE-type zinc finger containing
Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. The protein plays a key role in cell entry of ebola virus and SARS-CoV-2 by endocytosis Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. [provided by RefSeq, Jul 2021].
Isoforms & Proteins
4 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 735 amino-acid changes on canonical ENST00000264380 · 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 PIKFYVE · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PIKFYVE – 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 | 9/40 22% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 49/612 8% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Melanoma | 3/210 1% | 92/1899 5% |
| Non-Small Cell Lung Carcinoma | 24/304 8% | 35/1390 3% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 28/810 3% |
| Colorectal Carcinoma | 20/143 14% | 95/3239 3% |
| Other Solid Cancers | 3/94 3% | 43/1515 3% |
| Cervical Carcinoma | 0/35 0% | 12/422 3% |
| Gastric Carcinoma | 1/74 1% | 46/1809 3% |
| Bladder Carcinoma | 0/58 0% | 22/956 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 16/752 2% |
| Neuroendocrine Tumour | 4/154 3% | 10/577 2% |
| Ovarian Carcinoma | 8/109 7% | 13/998 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Biliary Tract Carcinoma | 4/54 7% | 12/950 1% |
| Head and Neck Carcinoma | 3/85 4% | 23/1574 1% |
| Ewings Sarcoma | 3/63 5% | 2/262 1% |
| Non-Cancerous | 1/104 1% | 13/830 2% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Glioma | 3/52 6% | 25/2127 1% |
| Hepatocellular Carcinoma | 0/46 0% | 28/2210 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 29/2550 1% |
| Plasma Cell Myeloma | 1/44 2% | 3/305 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Neuroblastoma | 9/87 10% | 6/1331 0% |
| Thyroid Gland Carcinoma | 4/45 9% | 13/1592 1% |
| Other Sarcomas | 2/69 3% | 6/699 1% |
Mutation Distribution
Where PIKFYVE is mutated · all tissues, split by cell line vs tissue
How many mutations in PIKFYVE 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 1,642 mutations in PIKFYVE
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 |
|---|