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 | 4,557 | 447 | 3,975 |
| Samples | 1,131 | 166 | 948 |
| Peptides | 1,031 | 145 | 889 |
Function
ARID1A · AT-rich interaction domain 1A
This gene encodes a member of the SWI/SNF family, whose members 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. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
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 984 amino-acid changes on canonical ENST00000324856 · 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 ARID1A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ARID1A – 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% |
| Endometrial Carcinoma | 10/42 24% | 43/612 7% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Burkitts Lymphoma | 5/32 16% | 11/196 6% |
| Bladder Carcinoma | 7/58 12% | 56/956 6% |
| Melanoma | 16/210 8% | 106/1899 6% |
| Chordoma | 1/7 14% | 0/13 0% |
| Gastric Carcinoma | 3/74 4% | 76/1809 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Colorectal Carcinoma | 16/143 11% | 104/3239 3% |
| Other Solid Cancers | 6/94 6% | 49/1515 3% |
| Non-Small Cell Lung Carcinoma | 18/304 6% | 40/1390 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 12/422 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Hodgkins Lymphoma | 1/16 6% | 3/122 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 23/810 3% |
| Hepatocellular Carcinoma | 1/46 2% | 63/2210 3% |
| Osteosarcoma | 1/45 2% | 5/166 3% |
| Plasma Cell Myeloma | 5/44 11% | 4/305 1% |
| Biliary Tract Carcinoma | 3/54 6% | 21/950 2% |
| Other Sarcomas | 3/69 4% | 11/699 2% |
| Kidney Carcinoma | 0/85 0% | 35/1862 2% |
| Head and Neck Carcinoma | 2/85 2% | 27/1574 2% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Esophageal Carcinoma | 0/23 0% | 12/769 2% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 37/2550 1% |
| Breast Carcinoma | 6/144 4% | 43/3264 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 22/1592 1% |
Mutation Distribution
Where ARID1A is mutated · all tissues, split by cell line vs tissue
How many mutations in ARID1A 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 4,557 mutations in ARID1A
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 |
|---|