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 | 1,807 | 164 | 1,626 |
| Samples | 512 | 73 | 433 |
| Peptides | 429 | 61 | 370 |
Function
RASA1 · RAS p21 protein activator 1
The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012].
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 422 amino-acid changes on canonical ENST00000274376 · 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 RASA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RASA1 – 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 | 7/40 18% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 33/612 5% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Cervical Carcinoma | 1/35 3% | 12/422 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Melanoma | 2/210 1% | 43/1899 2% |
| Colorectal Carcinoma | 7/143 5% | 65/3239 2% |
| Other Sarcomas | 4/69 6% | 11/699 2% |
| Burkitts Lymphoma | 3/32 9% | 1/196 1% |
| Gastric Carcinoma | 2/74 3% | 29/1809 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 14/810 2% |
| Bladder Carcinoma | 0/58 0% | 16/956 2% |
| Biliary Tract Carcinoma | 0/54 0% | 14/950 1% |
| Head and Neck Carcinoma | 6/85 7% | 16/1574 1% |
| Small Cell Lung Carcinoma | 1/9 11% | 9/752 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 17/1390 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 19/1592 1% |
| Esophageal Carcinoma | 0/23 0% | 8/769 1% |
| Hepatocellular Carcinoma | 0/46 0% | 22/2210 1% |
| Neuroendocrine Tumour | 3/154 2% | 4/577 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 22/2550 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Ovarian Carcinoma | 3/109 3% | 6/998 1% |
| Glioma | 2/52 4% | 15/2127 1% |
| Meningioma | 1/3 33% | 1/252 0% |
Mutation Distribution
Where RASA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in RASA1 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 1,807 mutations in RASA1
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 |
|---|