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 | 5,205 | 517 | 4,603 |
| Samples | 380 | 66 | 303 |
| Peptides | 377 | 55 | 329 |
Function
MBD1 · Methyl-CpG binding domain protein 1
The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011].
Isoforms & Proteins
17 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 |
|---|---|---|---|
| ENST00000269468 | Q9UIS9 | 368 | 256 |
| ENST00000457839 | Q9UIS9-9 | 337 | 248 |
| ENST00000585595 | Q9UIS9-9 | 337 | 248 |
| ENST00000590208 | Q9UIS9-12 | 336 | 247 |
| ENST00000382948 | Q9UIS9 | 328 | 239 |
| ENST00000591416 | Q9UIS9 | 327 | 238 |
| ENST00000269471 | Q9UIS9-2 | 312 | 227 |
| ENST00000588937 | Q9UIS9-2 | 312 | 227 |
| ENST00000339998 | Q9UIS9-6 | 308 | 222 |
| ENST00000591535 | Q9UIS9-8 | 303 | 218 |
| ENST00000353909 | Q9UIS9-5 | 301 | 219 |
| ENST00000585672 | Q9UIS9-10 | 297 | 215 |
| ENST00000398495 | A0A0A0MS90* | 280 | 215 |
| ENST00000347968 | Q9UIS9-7 | 272 | 207 |
| ENST00000398493 | Q9UIS9-7 | 272 | 207 |
| ENST00000587605 | Q9UIS9-11 | 261 | 200 |
| ENST00000398488 | Q9UIS9-4 | 254 | 193 |
Gene Properties
Recurrent Mutations
All 256 amino-acid changes on canonical ENST00000269468 · 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 MBD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MBD1 – 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% |
| Endometrial Carcinoma | 4/42 10% | 30/612 5% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Colorectal Carcinoma | 12/143 8% | 54/3239 2% |
| Melanoma | 3/210 1% | 32/1899 2% |
| Gastric Carcinoma | 4/74 5% | 27/1809 1% |
| Ovarian Carcinoma | 7/109 6% | 10/998 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Non-Cancerous | 0/104 0% | 14/830 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 12/810 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 14/1390 1% |
| Bladder Carcinoma | 0/58 0% | 10/956 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Mesothelioma | 0/62 0% | 2/165 1% |
| Cervical Carcinoma | 2/35 6% | 2/422 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Other Solid Cancers | 1/94 1% | 10/1515 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Head and Neck Carcinoma | 2/85 2% | 8/1574 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Biliary Tract Carcinoma | 1/54 2% | 4/950 0% |
| Breast Carcinoma | 3/144 2% | 13/3264 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 9/2534 0% |
| Kidney Carcinoma | 1/85 1% | 7/1862 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
Mutation Distribution
Where MBD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in MBD1 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 5,205 mutations in MBD1
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 |
|---|