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 | 225 | 58 | 163 |
| Samples | 125 | 33 | 90 |
| Peptides | 106 | 25 | 83 |
Function
MMACHC · Metabolism of cobalamin associated C
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009].
Isoforms & Proteins
2 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 |
|---|---|---|---|
| ENST00000401061 | Q9Y4U1 | 133 | 101 |
| ENST00000616135 | A0A0C4DGU2* | 92 | 71 |
Gene Properties
Recurrent Mutations
All 101 amino-acid changes on canonical ENST00000401061 · 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 MMACHC · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MMACHC – 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 | 2/40 5% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Acute Monocytic Leukemia | 1/1 100% | 0/25 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Hodgkins Lymphoma | 3/16 19% | 1/122 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Endometrial Carcinoma | 2/42 5% | 5/612 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Colorectal Carcinoma | 5/143 4% | 14/3239 0% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Gastric Carcinoma | 1/74 1% | 8/1809 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Melanoma | 0/210 0% | 8/1899 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 3/2550 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 1/810 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 1/1390 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 2/1592 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
Mutation Distribution
Where MMACHC is mutated · all tissues, split by cell line vs tissue
How many mutations in MMACHC 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 225 mutations in MMACHC
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 |
|---|