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 | 1,320 | 194 | 1,095 |
| Samples | 339 | 64 | 266 |
| Peptides | 291 | 48 | 243 |
Function
FGD4 · FYVE, RhoGEF and PH domain containing 4
This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015].
Isoforms & Proteins
6 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 233 amino-acid changes on canonical ENST00000427716 · 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 FGD4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FGD4 – 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 | 2/25 8% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 17/612 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 6/210 3% | 34/1899 2% |
| Neuroendocrine Tumour | 10/154 6% | 3/577 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Gastric Carcinoma | 3/74 4% | 21/1809 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 9/810 1% |
| Colorectal Carcinoma | 3/143 2% | 35/3239 1% |
| Other Solid Cancers | 0/94 0% | 18/1515 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 15/1390 1% |
| Bladder Carcinoma | 4/58 7% | 6/956 1% |
| Ovarian Carcinoma | 4/109 4% | 6/998 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 19/2550 1% |
| Biliary Tract Carcinoma | 2/54 4% | 6/950 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 11/1592 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 1/69 1% | 3/699 0% |
| Hepatocellular Carcinoma | 2/46 4% | 9/2210 0% |
| Breast Carcinoma | 5/144 3% | 11/3264 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Kidney Carcinoma | 1/85 1% | 5/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 8/2534 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
Mutation Distribution
Where FGD4 is mutated · all tissues, split by cell line vs tissue
How many mutations in FGD4 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 1,320 mutations in FGD4
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 |
|---|