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 | 175 | 37 | 134 |
| Samples | 171 | 34 | 134 |
| Peptides | 137 | 26 | 114 |
Function
AUP1 · AUP1 lipid droplet regulating VLDL assembly factor
The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles in the cytoplasm that store neutral lipids such as cholesterol esters and trigylycerides to prevent the overabundance of free cholesterol and fatty acids in cells, but also to act as storage for other metabolic processes, such as membrane biogenesis. Reduced expression of this gene results in reduced lipid droplet clustering, a function that is dependent on ubiquitination of the protein. This protein contains multiple domains including a hydrophobic N-terminal domain, an acetyltranferase domain, a ubiquitin-binding CUE domain, and a UBE2B2-binding domain (G2BR). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].
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 |
|---|---|---|---|
| ENST00000377526 | Q9Y679 | 175 | 137 |
Gene Properties
Recurrent Mutations
All 137 amino-acid changes on canonical ENST00000377526 · 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 AUP1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AUP1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 5/42 12% | 10/612 2% |
| Bladder Carcinoma | 3/58 5% | 9/956 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 1/74 1% | 14/1809 1% |
| Non-Cancerous | 4/104 4% | 3/830 0% |
| Neuroendocrine Tumour | 4/154 3% | 1/577 0% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Colorectal Carcinoma | 6/143 4% | 14/3239 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 8/1390 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 2/810 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Melanoma | 0/210 0% | 9/1899 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Kidney Carcinoma | 0/85 0% | 7/1862 0% |
| Prostate Carcinoma | 2/13 15% | 5/2105 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Breast Carcinoma | 1/144 1% | 8/3264 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Head and Neck Carcinoma | 1/85 1% | 3/1574 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 3/2550 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Pancreatic Carcinoma | 1/89 1% | 1/1611 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 1/1592 0% |
Mutation Distribution
Where AUP1 is mutated · all tissues, split by cell line vs tissue
How many mutations in AUP1 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 175 mutations in AUP1
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 |
|---|