Cancer Splicing QTL
What is CancerSplicingQTL?
CancerSplicingQTL is a pan-cancer resource that maps splicing quantitative trait loci (sQTLs) across thousands of tumor samples. It links genetic variants to changes in RNA splicing patterns, revealing how inherited variation reshapes transcript isoforms in cancer.
Splicing QTLs (sQTLs)
sQTLs are genomic variants that influence exon usage, splice site selection, and intron retention. Unlike expression QTLs, sQTLs directly affect transcript structure, often producing protein isoforms with distinct oncogenic or tumor-suppressive functions.
Role in Cancer
Aberrant splicing is a hallmark of cancer. Cancer-associated sQTLs can generate oncogenic isoforms, disrupt tumor suppressors, and alter signaling pathways controlling proliferation, apoptosis, immune evasion, and metastasis.
Clinical Significance
Thousands of CancerSplicingQTL variants are associated with patient survival. These splicing events provide prognostic biomarkers and mechanistic insight into GWAS cancer risk loci located in non-coding regions of the genome.
sQTLs vs eQTLs
While eQTLs affect gene expression levels, sQTLs control how transcripts are assembled. Many cancer-relevant variants act exclusively through splicing, making sQTL analysis essential for isoform-level precision oncology.
Precision Oncology
CancerSplicingQTL supports isoform-specific drug targeting, RNA-based therapies, and personalized cancer risk stratification. It represents a key resource for next-generation transcriptome-driven cancer research.
Cancer Splicing QTL
What is CancerSplicingQTL?
CancerSplicingQTL is a pan-cancer resource that maps splicing quantitative trait loci (sQTLs) across thousands of tumor samples. It links genetic variants to changes in RNA splicing patterns, revealing how inherited variation reshapes transcript isoforms in cancer.
Splicing QTLs (sQTLs)
sQTLs are genomic variants that influence exon usage, splice site selection, and intron retention. Unlike expression QTLs, sQTLs directly affect transcript structure, often producing protein isoforms with distinct oncogenic or tumor-suppressive functions.
Role in Cancer
Aberrant splicing is a hallmark of cancer. Cancer-associated sQTLs can generate oncogenic isoforms, disrupt tumor suppressors, and alter signaling pathways controlling proliferation, apoptosis, immune evasion, and metastasis.
Clinical Significance
Thousands of CancerSplicingQTL variants are associated with patient survival. These splicing events provide prognostic biomarkers and mechanistic insight into GWAS cancer risk loci located in non-coding regions of the genome.
sQTLs vs eQTLs
While eQTLs affect gene expression levels, sQTLs control how transcripts are assembled. Many cancer-relevant variants act exclusively through splicing, making sQTL analysis essential for isoform-level precision oncology.
Precision Oncology
CancerSplicingQTL supports isoform-specific drug targeting, RNA-based therapies, and personalized cancer risk stratification. It represents a key resource for next-generation transcriptome-driven cancer research.
