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 | 7,390 | 910 | 6,373 |
| Samples | 955 | 196 | 746 |
| Peptides | 750 | 132 | 643 |
Function
SLC8A1 · Solute carrier family 8 member A1
In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004].
Isoforms & Proteins
8 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 691 amino-acid changes on canonical ENST00000332839 · 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 SLC8A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SLC8A1 – 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 | 6/40 15% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Glioblastoma | 8/98 8% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 44/304 14% | 90/1390 6% |
| Melanoma | 17/210 8% | 138/1899 7% |
| Squamous Cell Lung Carcinoma | 10/57 18% | 44/810 5% |
| Endometrial Carcinoma | 3/42 7% | 24/612 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Colorectal Carcinoma | 26/143 18% | 79/3239 2% |
| Other Solid Cancers | 6/94 6% | 43/1515 3% |
| Gastric Carcinoma | 5/74 7% | 48/1809 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Neuroendocrine Tumour | 8/154 5% | 10/577 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 16/752 2% |
| Hepatocellular Carcinoma | 6/46 13% | 36/2210 2% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 46/2550 2% |
| Esophageal Carcinoma | 0/23 0% | 13/769 2% |
| Head and Neck Carcinoma | 4/85 5% | 22/1574 1% |
| Ovarian Carcinoma | 3/109 3% | 14/998 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Bladder Carcinoma | 1/58 2% | 13/956 1% |
| Cervical Carcinoma | 2/35 6% | 4/422 1% |
| Other Sarcomas | 3/69 4% | 5/699 1% |
| Biliary Tract Carcinoma | 2/54 4% | 8/950 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Breast Carcinoma | 7/144 5% | 25/3264 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Pancreatic Carcinoma | 2/89 2% | 12/1611 1% |
Mutation Distribution
Where SLC8A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SLC8A1 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 7,390 mutations in SLC8A1
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 |
|---|