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 | 4,451 | 772 | 3,630 |
| Samples | 2,873 | 512 | 2,324 |
| Peptides | 2,535 | 406 | 2,201 |
Function
APOB · Apolipoprotein B
This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019].
Isoforms & Proteins
3 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 |
|---|---|---|---|
| ENST00000233242 | P04114 | 3,904 | 2,517 |
| ENST00000399256 | A8MUN2* | 538 | 383 |
| ENST00000707961 | A0AAG2UUW0* | 9 | 9 |
Gene Properties
Recurrent Mutations
All 2500 amino-acid changes on canonical ENST00000233242 · 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 APOB · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in APOB – 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 |
|---|---|---|
| Melanoma | 58/210 28% | 390/1899 21% |
| T-Lymphoblastic Leukemia | 8/40 20% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 102/304 34% | 180/1390 13% |
| Acute Myeloid Leukemia | 14/90 16% | 0/0 0% |
| Oral Cavity Carcinoma | 8/54 15% | 0/0 0% |
| Endometrial Carcinoma | 10/42 24% | 73/612 12% |
| Squamous Cell Lung Carcinoma | 18/57 32% | 92/810 11% |
| Other Solid Cancers | 10/94 11% | 191/1515 13% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Glioblastoma | 10/98 10% | 0/0 0% |
| Gastric Carcinoma | 7/74 9% | 158/1809 9% |
| Colorectal Carcinoma | 47/143 33% | 237/3239 7% |
| Neuroendocrine Tumour | 25/154 16% | 35/577 6% |
| Hepatocellular Carcinoma | 5/46 11% | 137/2210 6% |
| Bladder Carcinoma | 14/58 24% | 49/956 5% |
| Esophageal Carcinoma | 0/23 0% | 48/769 6% |
| Ovarian Carcinoma | 25/109 23% | 40/998 4% |
| Esophageal Squamous Cell Carcinoma | 13/51 25% | 137/2550 5% |
| Other Sarcomas | 9/69 13% | 35/699 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 7/133 5% |
| Osteosarcoma | 6/45 13% | 5/166 3% |
| Small Cell Lung Carcinoma | 2/9 22% | 37/752 5% |
| Head and Neck Carcinoma | 6/85 7% | 68/1574 4% |
| Hodgkins Lymphoma | 0/16 0% | 6/122 5% |
| Biliary Tract Carcinoma | 7/54 13% | 36/950 4% |
| Cervical Carcinoma | 0/35 0% | 19/422 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Rhabdomyosarcoma | 1/33 3% | 7/171 4% |
| Mesothelioma | 6/62 10% | 1/165 1% |
| Pancreatic Carcinoma | 10/89 11% | 40/1611 2% |
Mutation Distribution
Where APOB is mutated · all tissues, split by cell line vs tissue
How many mutations in APOB 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 4,451 mutations in APOB
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 |
|---|