IRAV DB is an effort to organize the set of genomic variant causing intron retention collected from publicly available transcriptome sequencing data and provide the research community.

Many disease related variants are linked to abnormal splicing. One approach for identifying splicing causing variants is to perform genome and transcriptome analysis and identify the pair of genome variants and corresponding splicing changes with some statistical methods. However, this approach needs the pair of genome and transcriptome data, which is in general not very common.

To make the most of massive transcriptome data available in public sequence repositories, we have developed an workflow, IRAVNet that can identify genomic variants that cause specific types of splicing aberrations (more specifically variant causing intron retention) just using transcriptome sequencing data. We have applied it to 310,653 public data from Sequencing Read Archive, collecting 28,301 variants in total. Based on positional relationships with registered pathogenic variants, a total of 5,458 intron retention associated variants were presumed to be pathogenic ones, which included many cancer-related variants and autosomal recessive carriers.