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 | 488 | 87 | 398 |
| Samples | 190 | 48 | 141 |
| Peptides | 152 | 32 | 130 |
Function
MBD3 · Methyl-CpG binding domain protein 3
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013].
Isoforms & Proteins
3 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.
Gene Properties
Recurrent Mutations
All 136 amino-acid changes on canonical ENST00000434436 · 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 MBD3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MBD3 – 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 | 4/40 10% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 10/612 2% |
| Gastric Carcinoma | 0/74 0% | 21/1809 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Melanoma | 5/210 2% | 16/1899 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Other Solid Cancers | 0/94 0% | 15/1515 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 8/1390 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Colorectal Carcinoma | 7/143 5% | 15/3239 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 1/810 0% |
| Ovarian Carcinoma | 3/109 3% | 3/998 0% |
| Biliary Tract Carcinoma | 1/54 2% | 4/950 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 1/2534 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
Mutation Distribution
Where MBD3 is mutated · all tissues, split by cell line vs tissue
How many mutations in MBD3 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 488 mutations in MBD3
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 |
|---|