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 | 387 | 73 | 303 |
| Samples | 365 | 70 | 286 |
| Peptides | 247 | 49 | 202 |
Function
SART1 · Spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP
This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000312397 | O43290 | 387 | 247 |
Gene Properties
Recurrent Mutations
All 247 amino-acid changes on canonical ENST00000312397 · 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 SART1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SART1 – 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% |
| Chordoma | 2/7 29% | 1/13 8% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 14/612 2% |
| Unknown | 1/10 10% | 0/29 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 61/2550 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 3/210 1% | 34/1899 2% |
| Gastric Carcinoma | 2/74 3% | 26/1809 1% |
| Burkitts Lymphoma | 2/32 6% | 1/196 1% |
| Colorectal Carcinoma | 7/143 5% | 37/3239 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 12/1390 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Ovarian Carcinoma | 6/109 6% | 6/998 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 15/1592 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Bladder Carcinoma | 1/58 2% | 5/956 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Glioma | 0/52 0% | 10/2127 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Breast Carcinoma | 3/144 2% | 9/3264 0% |
Mutation Distribution
Where SART1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SART1 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 387 mutations in SART1
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 |
|---|