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 | 3,470 | 513 | 2,916 |
| Samples | 2,727 | 396 | 2,298 |
| Peptides | 2,150 | 316 | 1,904 |
Function
SPTA1 · Spectrin alpha, erythrocytic 1
This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017].
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 |
|---|---|---|---|
| ENST00000643759 | P02549 | 3,470 | 2,150 |
Gene Properties
Recurrent Mutations
All 2149 amino-acid changes on canonical ENST00000643759 · 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 SPTA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SPTA1 – 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 | 8/40 20% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 60/304 20% | 234/1390 17% |
| Squamous Cell Lung Carcinoma | 13/57 23% | 132/810 16% |
| Melanoma | 37/210 18% | 294/1899 15% |
| Endometrial Carcinoma | 18/42 43% | 75/612 12% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Gastric Carcinoma | 12/74 16% | 194/1809 11% |
| Other Solid Cancers | 15/94 16% | 156/1515 10% |
| Esophageal Carcinoma | 7/23 30% | 75/769 10% |
| Neuroendocrine Tumour | 41/154 27% | 22/577 4% |
| Colorectal Carcinoma | 34/143 24% | 252/3239 8% |
| Glioblastoma | 8/98 8% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 62/752 8% |
| Bladder Carcinoma | 5/58 9% | 57/956 6% |
| Hodgkins Lymphoma | 5/16 31% | 3/122 2% |
| Chordoma | 1/7 14% | 0/13 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Hepatocellular Carcinoma | 5/46 11% | 96/2210 4% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 104/2550 4% |
| Head and Neck Carcinoma | 8/85 9% | 62/1574 4% |
| Germ Cell Tumour | 2/25 8% | 6/169 4% |
| Cervical Carcinoma | 3/35 9% | 15/422 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Ewings Sarcoma | 6/63 10% | 6/262 2% |
| Prostate Carcinoma | 6/13 46% | 67/2105 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Glioma | 6/52 12% | 66/2127 3% |
| Biliary Tract Carcinoma | 3/54 6% | 29/950 3% |
| Breast Carcinoma | 14/144 10% | 93/3264 3% |
Mutation Distribution
Where SPTA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SPTA1 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 3,470 mutations in SPTA1
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 |
|---|