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 | 553 | 108 | 438 |
| Samples | 480 | 97 | 380 |
| Peptides | 418 | 76 | 351 |
Function
MAML2 · Mastermind like transcriptional coactivator 2
The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015].
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 |
|---|---|---|---|
| ENST00000524717 | Q8IZL2 | 553 | 418 |
Gene Properties
Recurrent Mutations
All 419 amino-acid changes on canonical ENST00000524717 · 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 MAML2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MAML2 – 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 | 6/40 15% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 36/612 6% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Melanoma | 10/210 5% | 47/1899 2% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Colorectal Carcinoma | 20/143 14% | 39/3239 1% |
| Gastric Carcinoma | 4/74 5% | 28/1809 2% |
| Hepatocellular Carcinoma | 1/46 2% | 32/2210 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 11/810 1% |
| Cervical Carcinoma | 1/35 3% | 5/422 1% |
| Other Solid Cancers | 0/94 0% | 18/1515 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 27/2550 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Bladder Carcinoma | 2/58 3% | 9/956 1% |
| Ovarian Carcinoma | 3/109 3% | 9/998 1% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 18/1390 1% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Non-Cancerous | 2/104 2% | 7/830 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Other Sarcomas | 5/69 7% | 2/699 0% |
| Head and Neck Carcinoma | 0/85 0% | 13/1574 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| Breast Carcinoma | 4/144 3% | 16/3264 0% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
Mutation Distribution
Where MAML2 is mutated · all tissues, split by cell line vs tissue
How many mutations in MAML2 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 553 mutations in MAML2
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 |
|---|