MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing. Issue 4 (1st March 2021)

• Record Type: Journal Article
• Authors: Palmisano, Alida; Vural, Suleyman; Zhao, Yingdong; Sonkin, Dmitriy
• Is Part Of: Human mutation. Volume 42:Issue 4(2021)
• Page Start: 342
• Page End: 345
• Publication Date: 2021-03-01
• Subjects: MutSpliceDB -- RNA‐seq -- splice sites -- splice variants -- splicing; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.24185
• Languages: English
• ISSNs: 1059-7794

Abstract

Abstract: Splice site variants may lead to transcript alterations, causing exons inclusion, exclusion, truncation, or intron retention. Interpreting the consequences of a specific splice site variant is not straightforward, especially if the variant is located outside of the canonical splice sites. We developed MutSpliceDB: https://brb.nci.nih.gov/splicing, a public resource to facilitate the interpretation of splice sites variants effects on splicing based on manually reviewed RNA‐seq BAM files from samples with splice site variants.