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 | 505 | 72 | 426 |
| Samples | 176 | 35 | 138 |
| Peptides | 145 | 25 | 122 |
Function
SMAD1 · SMAD family member 1
The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [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.
Gene Properties
Recurrent Mutations
All 145 amino-acid changes on canonical ENST00000302085 · 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 SMAD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SMAD1 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 7/612 1% |
| Melanoma | 1/210 0% | 20/1899 1% |
| Colorectal Carcinoma | 10/143 7% | 20/3239 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Cervical Carcinoma | 1/35 3% | 3/422 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 11/1390 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Ovarian Carcinoma | 4/109 4% | 2/998 0% |
| Gastric Carcinoma | 0/74 0% | 10/1809 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Kidney Carcinoma | 0/85 0% | 6/1862 0% |
| Neuroblastoma | 1/87 1% | 3/1331 0% |
| Prostate Carcinoma | 2/13 15% | 4/2105 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 2/2534 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 2/1592 0% |
| Other Blood Cancers | 2/61 3% | 2/2725 0% |
| Breast Carcinoma | 2/144 1% | 2/3264 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Hepatocellular Carcinoma | 0/46 0% | 2/2210 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 2/2640 0% |
Mutation Distribution
Where SMAD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SMAD1 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 505 mutations in SMAD1
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 |
|---|