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 | 1,090 | 127 | 913 |
| Samples | 168 | 33 | 130 |
| Peptides | 128 | 23 | 103 |
Function
CTSB · Cathepsin B
This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Both Cathepsin B and Cathepsin L are involved in the cleavage of the spike protein from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) upon its entry to the human host cell. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Sep 2020].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000353047 | P07858 | 176 | 123 |
| ENST00000345125 | P07858 | 159 | 116 |
| ENST00000530640 | P07858 | 159 | 116 |
| ENST00000531089 | P07858 | 159 | 116 |
| ENST00000533455 | P07858 | 159 | 116 |
| ENST00000534510 | P07858 | 159 | 116 |
| ENST00000453527 | A0A7P0NGZ6* | 118 | 90 |
| ENST00000710766 | A0A7I2V4Z9* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 123 amino-acid changes on canonical ENST00000353047 · 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 CTSB · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CTSB – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 11/956 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Endometrial Carcinoma | 2/42 5% | 4/612 1% |
| Colorectal Carcinoma | 5/143 4% | 26/3239 1% |
| Melanoma | 4/210 2% | 11/1899 1% |
| Gastric Carcinoma | 1/74 1% | 10/1809 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 7/2550 0% |
| Glioma | 2/52 4% | 6/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 5/1390 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 3/2534 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Other Solid Cancers | 0/94 0% | 3/1515 0% |
| Breast Carcinoma | 0/144 0% | 6/3264 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| Pancreatic Carcinoma | 1/89 1% | 2/1611 0% |
| Other Blood Cancers | 0/61 0% | 4/2725 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
Mutation Distribution
Where CTSB is mutated · all tissues, split by cell line vs tissue
How many mutations in CTSB 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 1,090 mutations in CTSB
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 |
|---|