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 | 1,172 | 204 | 946 |
| Samples | 294 | 68 | 218 |
| Peptides | 274 | 58 | 220 |
Function
CLPB · ClpB family mitochondrial disaggregase
This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000538039 | Q9H078-2 | 292 | 216 |
| ENST00000294053 | Q9H078 | 271 | 214 |
| ENST00000340729 | Q9H078-3 | 252 | 203 |
| ENST00000543042 | A0A2U3TZY2* | 249 | 201 |
| ENST00000646117 | A0A2R8Y6R5* | 108 | 85 |
Gene Properties
Recurrent Mutations
All 216 amino-acid changes on canonical ENST00000538039 · 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 CLPB · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CLPB – 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% |
| Endometrial Carcinoma | 6/42 14% | 12/612 2% |
| Melanoma | 5/210 2% | 30/1899 2% |
| Neuroendocrine Tumour | 9/154 6% | 3/577 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 11/810 1% |
| Cervical Carcinoma | 2/35 6% | 5/422 1% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Colorectal Carcinoma | 12/143 8% | 32/3239 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 10/1390 1% |
| Gastric Carcinoma | 0/74 0% | 15/1809 1% |
| Esophageal Carcinoma | 1/23 4% | 5/769 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Other Solid Cancers | 0/94 0% | 12/1515 1% |
| Other Sarcomas | 3/69 4% | 2/699 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 17/2550 1% |
| Non-Cancerous | 3/104 3% | 3/830 0% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| Bladder Carcinoma | 1/58 2% | 5/956 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Hepatocellular Carcinoma | 0/46 0% | 12/2210 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Ovarian Carcinoma | 3/109 3% | 1/998 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
Mutation Distribution
Where CLPB is mutated · all tissues, split by cell line vs tissue
How many mutations in CLPB 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 1,172 mutations in CLPB
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 |
|---|