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 | 2,898 | 438 | 2,412 |
| Samples | 880 | 194 | 670 |
| Peptides | 703 | 136 | 576 |
Function
FHOD3 · Formin homology 2 domain containing 3
The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015].
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 623 amino-acid changes on canonical ENST00000590592 · 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 FHOD3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FHOD3 – 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% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 31/612 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 22/304 7% | 47/1390 3% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Colorectal Carcinoma | 28/143 20% | 97/3239 3% |
| Gastric Carcinoma | 7/74 9% | 55/1809 3% |
| Melanoma | 11/210 5% | 53/1899 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Neuroendocrine Tumour | 12/154 8% | 7/577 1% |
| Plasma Cell Myeloma | 3/44 7% | 6/305 2% |
| Other Solid Cancers | 7/94 7% | 34/1515 2% |
| Hepatocellular Carcinoma | 4/46 9% | 49/2210 2% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 16/810 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 30/1592 2% |
| Ewings Sarcoma | 5/63 8% | 1/262 0% |
| Other Sarcomas | 5/69 7% | 9/699 1% |
| Burkitts Lymphoma | 4/32 12% | 0/196 0% |
| Ovarian Carcinoma | 7/109 6% | 12/998 1% |
| Biliary Tract Carcinoma | 3/54 6% | 12/950 1% |
| Hodgkins Lymphoma | 1/16 6% | 1/122 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 11/752 1% |
| Breast Carcinoma | 8/144 6% | 37/3264 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Bladder Carcinoma | 4/58 7% | 9/956 1% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| B-Cell Non-Hodgkins Lymphoma | 12/88 14% | 19/2534 1% |
Mutation Distribution
Where FHOD3 is mutated · all tissues, split by cell line vs tissue
How many mutations in FHOD3 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 2,898 mutations in FHOD3
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 |
|---|