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 | 966 | 143 | 810 |
| Samples | 337 | 72 | 261 |
| Peptides | 311 | 49 | 261 |
Function
CLCN3 · Cl-/H+ antiporter 3
This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011].
Isoforms & Proteins
3 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 271 amino-acid changes on canonical ENST00000513761 · 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 CLCN3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CLCN3 – 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 | 5/40 12% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 23/612 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Melanoma | 3/210 1% | 40/1899 2% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 18/1390 1% |
| Other Solid Cancers | 0/94 0% | 26/1515 2% |
| Colorectal Carcinoma | 10/143 7% | 40/3239 1% |
| Neuroendocrine Tumour | 7/154 5% | 2/577 0% |
| Gastric Carcinoma | 2/74 3% | 19/1809 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 3/752 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Breast Carcinoma | 8/144 6% | 12/3264 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 5/810 1% |
| Ovarian Carcinoma | 3/109 3% | 3/998 0% |
| Head and Neck Carcinoma | 1/85 1% | 8/1574 1% |
| Hepatocellular Carcinoma | 0/46 0% | 12/2210 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 8/2550 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| Kidney Carcinoma | 0/85 0% | 6/1862 0% |
| Biliary Tract Carcinoma | 1/54 2% | 2/950 0% |
| Glioma | 0/52 0% | 6/2127 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
Mutation Distribution
Where CLCN3 is mutated · all tissues, split by cell line vs tissue
How many mutations in CLCN3 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 966 mutations in CLCN3
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 |
|---|