14,960
SRA project number
310,699
SRA runID number
28,945
SSCV (distinct) number
Examples: TP53, SMARCA4, NRF2
on 2023/12/26, We released SSCV DB v1.0.
The SSCV DB represents an experimental challenge that autonomously develops a registry of splice-site creating variants (SSCVs) using publicly available transcriptome sequencing data, and provides this resource to the research community.
Genetic variants that result in abnormal splicing play a significant role in the onset of genetic disorders and cancer. This database primarily focuses on SSCVs, which are crucial for several reasons:
We have developed a software, juncmut, designed to detect SSCVs only using transcriptome sequencing data. This approach is refined to minimize false positives. Additionally, juncmut can operate on individual transcriptomes without requiring predefined groups in the analysis, facilitating the efficient compilation of SSCVs via a consolidated process of extensive transcriptome sequencing. We are confident that this tool will be instrumental in uncovering new biological understanding and in identifying novel targets for splice-switching antisense ASOs.