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 | 423 | 95 | 320 |
| Samples | 383 | 78 | 301 |
| Peptides | 304 | 59 | 251 |
Function
FIG4 · FIG4 phosphoinositide 5-phosphatase
The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [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 |
|---|---|---|---|
| ENST00000230124 | Q92562 | 412 | 296 |
| ENST00000368941 | Q5TCS4* | 10 | 7 |
| ENST00000675122 | A0A6Q8PFJ3* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 296 amino-acid changes on canonical ENST00000230124 · 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 FIG4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FIG4 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 21/612 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 18/1390 1% |
| Colorectal Carcinoma | 16/143 11% | 57/3239 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 9/422 2% |
| Melanoma | 6/210 3% | 29/1899 2% |
| Other Solid Cancers | 2/94 2% | 21/1515 1% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 10/810 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Gastric Carcinoma | 1/74 1% | 18/1809 1% |
| Esophageal Carcinoma | 0/23 0% | 8/769 1% |
| Bladder Carcinoma | 1/58 2% | 9/956 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Ovarian Carcinoma | 4/109 4% | 6/998 1% |
| Hepatocellular Carcinoma | 0/46 0% | 17/2210 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Head and Neck Carcinoma | 3/85 4% | 7/1574 0% |
| Non-Cancerous | 1/104 1% | 4/830 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 12/2550 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Breast Carcinoma | 5/144 3% | 10/3264 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
Mutation Distribution
Where FIG4 is mutated · all tissues, split by cell line vs tissue
How many mutations in FIG4 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 423 mutations in FIG4
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 |
|---|