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 | 2,237 | 275 | 1,942 |
| Samples | 553 | 98 | 450 |
| Peptides | 425 | 75 | 371 |
Function
SLC12A3 · Solute carrier family 12 member 3
This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple 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 396 amino-acid changes on canonical ENST00000563236 · 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 SLC12A3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SLC12A3 – 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 | 2/26 8% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 27/612 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Melanoma | 4/210 2% | 67/1899 4% |
| Non-Small Cell Lung Carcinoma | 22/304 7% | 32/1390 2% |
| Bladder Carcinoma | 3/58 5% | 19/956 2% |
| Other Solid Cancers | 2/94 2% | 31/1515 2% |
| Gastric Carcinoma | 4/74 5% | 33/1809 2% |
| Colorectal Carcinoma | 15/143 10% | 49/3239 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 14/810 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 11/752 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 35/2550 1% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Meningioma | 0/3 0% | 3/252 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Mesothelioma | 0/62 0% | 2/165 1% |
| Biliary Tract Carcinoma | 0/54 0% | 8/950 1% |
| Prostate Carcinoma | 1/13 8% | 16/2105 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Ovarian Carcinoma | 2/109 2% | 6/998 1% |
| Other Sarcomas | 3/69 4% | 2/699 0% |
| Glioma | 3/52 6% | 11/2127 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Head and Neck Carcinoma | 1/85 1% | 8/1574 1% |
| Breast Carcinoma | 2/144 1% | 16/3264 0% |
Mutation Distribution
Where SLC12A3 is mutated · all tissues, split by cell line vs tissue
How many mutations in SLC12A3 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 52 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 2,237 mutations in SLC12A3
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 |
|---|