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 | 1,020 | 355 | 655 |
| Samples | 808 | 289 | 510 |
| Peptides | 626 | 224 | 423 |
Function
MALRD1 · MAM and LDL receptor class A domain containing 1
This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017].
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 |
|---|---|---|---|
| ENST00000454679 | Q5VYJ5 | 1,020 | 626 |
Gene Properties
Recurrent Mutations
All 626 amino-acid changes on canonical ENST00000454679 · 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 MALRD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MALRD1 – 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 | 5/40 12% | 0/0 0% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Glioblastoma | 10/98 10% | 0/0 0% |
| Melanoma | 31/210 15% | 84/1899 4% |
| Rhabdomyosarcoma | 6/33 18% | 4/171 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 13/42 31% | 12/612 2% |
| Chondrosarcoma | 3/14 21% | 0/75 0% |
| Neuroendocrine Tumour | 19/154 12% | 4/577 1% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Gastric Carcinoma | 7/74 9% | 47/1809 3% |
| Other Solid Cancers | 3/94 3% | 42/1515 3% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 69/2550 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Non-Small Cell Lung Carcinoma | 31/304 10% | 11/1390 1% |
| Germ Cell Tumour | 4/25 16% | 0/169 0% |
| Squamous Cell Lung Carcinoma | 13/57 23% | 3/810 0% |
| Hepatocellular Carcinoma | 2/46 4% | 38/2210 2% |
| Plasma Cell Myeloma | 4/44 9% | 2/305 1% |
| Colorectal Carcinoma | 25/143 17% | 31/3239 1% |
| Other Sarcomas | 8/69 12% | 4/699 1% |
| Cervical Carcinoma | 3/35 9% | 4/422 1% |
| Esophageal Carcinoma | 2/23 9% | 9/769 1% |
| Biliary Tract Carcinoma | 4/54 7% | 10/950 1% |
| Ovarian Carcinoma | 11/109 10% | 4/998 0% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Thyroid Gland Carcinoma | 4/45 9% | 14/1592 1% |
| Bladder Carcinoma | 5/58 9% | 6/956 1% |
Mutation Distribution
Where MALRD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in MALRD1 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 1,020 mutations in MALRD1
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 |
|---|