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 | 666 | 230 | 416 |
| Samples | 123 | 44 | 76 |
| Peptides | 77 | 15 | 66 |
Function
CBWD1 · Zinc-regulated GTPase metalloprotein activator 1A
Zinc chaperone that directly transfers zinc cofactor to target metalloproteins, thereby activating them. Catalyzes zinc insertion into the active site of methionine aminopeptidase METAP1, which function to cleave the initiator methionine from polypeptides during or after protein translation. Mechanistically, the N-terminal psi-PxLVp motif binds to the C6H2-type zinc finger of inactive form of METAP1. After formation of the docked complex, zinc is transferred from the CXCC motif in the GTPase domain of ZNG1A to the zinc binding site in the peptidase domain of METAP1 in a process requiring GTP hydrolysis. GTP/GDP exchange is required for release of active METAP1
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 |
|---|---|---|---|
| ENST00000356521 | Q9BRT8 | 112 | 56 |
| ENST00000377400 | Q9BRT8 | 112 | 56 |
| ENST00000382447 | Q9BRT8-3 | 112 | 56 |
| ENST00000314367 | Q9BRT8-2 | 108 | 54 |
| ENST00000613508 | A0A087X140* | 101 | 48 |
| ENST00000377447 | F2Z2T4* | 83 | 47 |
| ENST00000382393 | Q9BRT8-4 | 21 | 14 |
| ENST00000382389 | A0A0B4J1T6* | 17 | 12 |
Gene Properties
Recurrent Mutations
All 56 amino-acid changes on canonical ENST00000356521 · 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 CBWD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CBWD1 – 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 |
|---|---|---|
| Chordoma | 1/7 14% | 0/13 0% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 7/612 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Gastric Carcinoma | 4/74 5% | 9/1809 0% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 2/810 0% |
| Hepatocellular Carcinoma | 2/46 4% | 12/2210 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 2/1390 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Colorectal Carcinoma | 4/143 3% | 7/3239 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Melanoma | 0/210 0% | 6/1899 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 0/752 0% |
| Other Solid Cancers | 1/94 1% | 3/1515 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 3/1592 0% |
| Breast Carcinoma | 0/144 0% | 5/3264 0% |
| Head and Neck Carcinoma | 1/85 1% | 1/1574 0% |
| Other Blood Cancers | 1/61 2% | 2/2725 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
Mutation Distribution
Where CBWD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in CBWD1 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 666 mutations in CBWD1
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 |
|---|