The origins and consequences of UPF1 variants in pancreatic adenosquamous carcinoma
UID: 10794
- Description
- Summary from the GEO: "Pancreatic adenosquamous carcinoma (PASC) is an aggressive cancer whose mutational origins are poorly understood. An early study reported high-frequency somatic mutations affecting UPF1, a core nonsense-mediated mRNA decay (NMD) factor, in PASC, but subsequent studies did not observe these lesions. The corresponding controversy about whether UPF1 mutations are important contributors to PASC has been exacerbated by a paucity of functional studies. Here, we modeled two UPF1 mutations to find no significant effects on pancreatic cancer growth, acquisition of adenosquamous features, UPF1 splicing, UPF1 protein levels, or NMD efficiency. We subsequently discovered that ~40% of UPF1 mutations reportedly present in PASCs are identical to standing genetic variants in the human population, suggesting that they may be non-pathogenic inherited variants rather than pathogenic mutations. Our data suggest that UPF1 is not a common functional driver of PASC and motivate further attempts to identify unique genetic features defining these malignancies."
Overall design from the GEO: "RNA-seq of HEK 293T cell lines carrying mutations in UPF1."
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Access via GEO
XLSX files regarding expression profiling by high throughput sequencing
Accession #: GSE163517Access via SRARNA sequencing of 9 samples.
Accession #: SRP298492Access via BioProjectAdditional information about the overall inititative.
Accession #: PRJNA686417 - Access Restrictions
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Free to All
- Access Instructions
- The NCBI Gene Expression Omnibus, SRA, and BioProject databases provide open access to these files.
- Associated Publications
- Data Type
- Equipment Used
- Software Used
- Dataset Format(s)
- SRA, XLSX
- Data Tool(s)
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RNA Seq
- Dataset Size
- 310.4 KB (XLSX). 14.3 Gb (SRA)
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