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 | 22,157 | 1,877 | 20,044 |
| Samples | 1,402 | 230 | 1,152 |
| Peptides | 1,013 | 176 | 888 |
Function
SMARCA4 · SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].
Isoforms & Proteins
17 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 |
|---|---|---|---|
| ENST00000344626 | P51532 | 1,663 | 935 |
| ENST00000646693 | Q9HBD4* | 1,383 | 830 |
| ENST00000541122 | P51532-4 | 1,382 | 827 |
| ENST00000429416 | P51532 | 1,377 | 825 |
| ENST00000589677 | P51532-3 | 1,370 | 819 |
| ENST00000590574 | P51532-2 | 1,370 | 822 |
| ENST00000643549 | A0A2R8Y4P4* | 1,367 | 819 |
| ENST00000444061 | P51532-5 | 1,366 | 817 |
| ENST00000642628 | A0A2R8Y7S2* | 1,364 | 816 |
| ENST00000642726 | A0A2R8Y7S2* | 1,364 | 816 |
| ENST00000643296 | P51532-4 | 1,359 | 812 |
| ENST00000644737 | P51532-4 | 1,359 | 812 |
| ENST00000645460 | P51532-5 | 1,358 | 811 |
| ENST00000646484 | P51532-2 | 1,358 | 811 |
| ENST00000646510 | P51532-2 | 1,358 | 811 |
| ENST00000647230 | P51532-2 | 1,358 | 811 |
| ENST00000645236 | A0A2R8Y5K3* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 935 amino-acid changes on canonical ENST00000344626 · 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 SMARCA4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SMARCA4 – 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 | 11/40 28% | 0/0 0% |
| Burkitts Lymphoma | 9/32 28% | 38/196 19% |
| Endometrial Carcinoma | 15/42 36% | 42/612 7% |
| Melanoma | 10/210 5% | 118/1899 6% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 29/304 10% | 65/1390 5% |
| Colorectal Carcinoma | 28/143 20% | 147/3239 5% |
| Hodgkins Lymphoma | 4/16 25% | 3/122 2% |
| Other Solid Cancers | 5/94 5% | 73/1515 5% |
| Gastric Carcinoma | 4/74 5% | 80/1809 4% |
| Bladder Carcinoma | 2/58 3% | 41/956 4% |
| Cervical Carcinoma | 5/35 14% | 14/422 3% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Medulloblastoma | 0/0 0% | 18/450 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Esophageal Carcinoma | 2/23 9% | 28/769 4% |
| Small Cell Lung Carcinoma | 2/9 22% | 24/752 3% |
| Neuroendocrine Tumour | 9/154 6% | 13/577 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 25/810 3% |
| Ovarian Carcinoma | 10/109 9% | 21/998 2% |
| Kidney Carcinoma | 10/85 12% | 40/1862 2% |
| Head and Neck Carcinoma | 7/85 8% | 35/1574 2% |
| Thyroid Gland Carcinoma | 7/45 16% | 30/1592 2% |
| Non-Cancerous | 0/104 0% | 21/830 3% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Biliary Tract Carcinoma | 3/54 6% | 18/950 2% |
| Glioma | 1/52 2% | 44/2127 2% |
| Other Sarcomas | 1/69 1% | 14/699 2% |
| Mesothelioma | 1/62 2% | 3/165 2% |
| Pancreatic Carcinoma | 1/89 1% | 28/1611 2% |
Mutation Distribution
Where SMARCA4 is mutated · all tissues, split by cell line vs tissue
How many mutations in SMARCA4 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 22,157 mutations in SMARCA4
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 |
|---|