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 | 99 | 20 | 76 |
| Samples | 99 | 20 | 76 |
| Peptides | 77 | 13 | 62 |
Function
CLTRN · Collectrin, amino acid transport regulator
This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013].
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 |
|---|---|---|---|
| ENST00000380342 | Q9HBJ8 | 99 | 77 |
Gene Properties
Recurrent Mutations
All 77 amino-acid changes on canonical ENST00000380342 · 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 CLTRN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CLTRN – 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 | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 8/612 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Melanoma | 0/210 0% | 13/1899 1% |
| Colorectal Carcinoma | 5/143 4% | 13/3239 0% |
| Other Solid Cancers | 1/94 1% | 7/1515 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Gastric Carcinoma | 0/74 0% | 5/1809 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 2/2534 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Breast Carcinoma | 1/144 1% | 5/3264 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Kidney Carcinoma | 2/85 2% | 1/1862 0% |
| Hepatocellular Carcinoma | 1/46 2% | 2/2210 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 2/1390 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Neuroblastoma | 0/87 0% | 1/1331 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| Other Blood Cancers | 1/61 2% | 0/2725 0% |
Mutation Distribution
Where CLTRN is mutated · all tissues, split by cell line vs tissue
How many mutations in CLTRN 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.
Mutations
All 99 mutations in CLTRN
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 |
|---|