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 | 2,761 | 170 | 2,496 |
| Samples | 938 | 95 | 812 |
| Peptides | 407 | 53 | 361 |
Function
SMAD4 · SMAD family member 4
This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasing blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, May 2022].
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 390 amino-acid changes on canonical ENST00000342988 · 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 SMAD4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SMAD4 – 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 |
|---|---|---|
| Chordoma | 3/7 43% | 0/13 0% |
| Colorectal Carcinoma | 21/143 15% | 296/3239 9% |
| Pancreatic Carcinoma | 4/89 4% | 130/1611 8% |
| Biliary Tract Carcinoma | 5/54 9% | 52/950 5% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Gastric Carcinoma | 7/74 9% | 70/1809 4% |
| Esophageal Carcinoma | 0/23 0% | 32/769 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Cervical Carcinoma | 1/35 3% | 13/422 3% |
| Endometrial Carcinoma | 6/42 14% | 13/612 2% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 28/1390 2% |
| Bladder Carcinoma | 4/58 7% | 14/956 1% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Head and Neck Carcinoma | 5/85 6% | 16/1574 1% |
| Ovarian Carcinoma | 6/109 6% | 6/998 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 26/2550 1% |
| Non-Cancerous | 1/104 1% | 9/830 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Other Solid Cancers | 1/94 1% | 15/1515 1% |
| Neuroendocrine Tumour | 0/154 0% | 7/577 1% |
| Melanoma | 4/210 2% | 16/1899 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 6/810 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Breast Carcinoma | 2/144 1% | 21/3264 1% |
| Prostate Carcinoma | 0/13 0% | 14/2105 1% |
| Hepatocellular Carcinoma | 0/46 0% | 15/2210 1% |
Mutation Distribution
Where SMAD4 is mutated · all tissues, split by cell line vs tissue
How many mutations in SMAD4 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 2,761 mutations in SMAD4
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 |
|---|