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 | 77 |
| Samples | 93 | 20 | 71 |
| Peptides | 68 | 13 | 56 |
Function
CHMP4B · Charged multivesicular body protein 4B
This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009].
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 |
|---|---|---|---|
| ENST00000217402 | Q9H444 | 99 | 68 |
Gene Properties
Recurrent Mutations
All 68 amino-acid changes on canonical ENST00000217402 · 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 CHMP4B · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CHMP4B – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Endometrial Carcinoma | 2/42 5% | 4/612 1% |
| Melanoma | 0/210 0% | 15/1899 1% |
| Neuroendocrine Tumour | 5/154 3% | 0/577 0% |
| Colorectal Carcinoma | 5/143 4% | 14/3239 0% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 4/1390 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 1/2534 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 2/2640 0% |
| Gastric Carcinoma | 0/74 0% | 1/1809 0% |
| Breast Carcinoma | 0/144 0% | 1/3264 0% |
Mutation Distribution
Where CHMP4B is mutated · all tissues, split by cell line vs tissue
How many mutations in CHMP4B 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 99 mutations in CHMP4B
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 |
|---|