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 | 880 | 157 | 713 |
| Samples | 804 | 139 | 655 |
| Peptides | 629 | 134 | 519 |
Function
MAGEL2 · MAGE family member L2
Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010].
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.
Gene Properties
Recurrent Mutations
All 627 amino-acid changes on canonical ENST00000650528 · 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 MAGEL2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MAGEL2 – 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 |
|---|---|---|
| Squamous Cell Lung Carcinoma | 7/57 12% | 36/810 4% |
| Melanoma | 18/210 9% | 80/1899 4% |
| Other Solid Cancers | 5/94 5% | 57/1515 4% |
| Endometrial Carcinoma | 5/42 12% | 19/612 3% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 44/1390 3% |
| Cervical Carcinoma | 1/35 3% | 14/422 3% |
| Gastric Carcinoma | 5/74 7% | 55/1809 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 23/752 3% |
| Neuroendocrine Tumour | 14/154 9% | 5/577 1% |
| Unknown | 1/10 10% | 0/29 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Hepatocellular Carcinoma | 5/46 11% | 46/2210 2% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 56/2550 2% |
| Biliary Tract Carcinoma | 4/54 7% | 16/950 2% |
| Colorectal Carcinoma | 14/143 10% | 50/3239 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Esophageal Carcinoma | 2/23 9% | 11/769 1% |
| Head and Neck Carcinoma | 4/85 5% | 21/1574 1% |
| Rhabdomyosarcoma | 1/33 3% | 2/171 1% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Other Sarcomas | 4/69 6% | 5/699 1% |
| Non-Cancerous | 0/104 0% | 9/830 1% |
| Glioma | 3/52 6% | 15/2127 1% |
| Pancreatic Carcinoma | 0/89 0% | 13/1611 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Ovarian Carcinoma | 3/109 3% | 5/998 0% |
| Breast Carcinoma | 5/144 3% | 19/3264 1% |
Mutation Distribution
Where MAGEL2 is mutated · all tissues, split by cell line vs tissue
How many mutations in MAGEL2 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 52 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 880 mutations in MAGEL2
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 |
|---|