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 | 984 | 192 | 774 |
| Samples | 493 | 128 | 354 |
| Peptides | 402 | 75 | 334 |
Function
UPF1 · UPF1 RNA helicase and ATPase
This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].
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 383 amino-acid changes on canonical ENST00000262803 · 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 UPF1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in UPF1 – 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 | 10/40 25% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 6/42 14% | 18/612 3% |
| Colorectal Carcinoma | 20/143 14% | 63/3239 2% |
| Melanoma | 16/210 8% | 35/1899 2% |
| Cervical Carcinoma | 2/35 6% | 9/422 2% |
| Bladder Carcinoma | 3/58 5% | 19/956 2% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Germ Cell Tumour | 0/25 0% | 4/169 2% |
| Non-Small Cell Lung Carcinoma | 15/304 5% | 15/1390 1% |
| Gastric Carcinoma | 5/74 7% | 27/1809 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 10/810 1% |
| Other Solid Cancers | 0/94 0% | 19/1515 1% |
| Meningioma | 1/3 33% | 2/252 1% |
| Plasma Cell Myeloma | 3/44 7% | 1/305 0% |
| Head and Neck Carcinoma | 2/85 2% | 15/1574 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Ewings Sarcoma | 2/63 3% | 1/262 0% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Glioma | 0/52 0% | 19/2127 1% |
| Neuroendocrine Tumour | 4/154 3% | 2/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Other Sarcomas | 3/69 4% | 3/699 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Ovarian Carcinoma | 3/109 3% | 5/998 0% |
| Hepatocellular Carcinoma | 0/46 0% | 16/2210 1% |
| Kidney Carcinoma | 1/85 1% | 11/1862 1% |
| Breast Carcinoma | 6/144 4% | 14/3264 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
Mutation Distribution
Where UPF1 is mutated · all tissues, split by cell line vs tissue
How many mutations in UPF1 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 984 mutations in UPF1
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 |
|---|