| URL: | https://brb.nci.nih.gov/splicing |
| Full name: | |
| Description: | MutSpliceDB documents mutation effect (s) on splicing (such as exon inclusion/exclusion or intron retention) based on RNA-seq BAM files from sample(s) with particular splice site mutations. |
| Year founded: | 2021 |
| Last update: | |
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| Accessibility: |
Accessible
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| Country/Region: | United States |
| Data type: | |
| Data object: |
NA
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| Database category: | |
| Major species: |
NA
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| Keywords: |
| University/Institution: | National Cancer Institute |
| Address: | |
| City: | |
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| Country/Region: | United States |
| Contact name (PI/Team): | Dmitriy Sonkin |
| Contact email (PI/Helpdesk): | dmitriy.sonkin@nih.gov |
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MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing. [PMID: 33600011]
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. |