MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing.
MutSpliceDB
RNA-seq
splice sites
splice variants
splicing
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
02
11
2020
received:
28
08
2020
accepted:
13
02
2021
pubmed:
19
2
2021
medline:
1
4
2022
entrez:
18
2
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33600011
doi: 10.1002/humu.24185
pmc: PMC9867871
mid: NIHMS1863252
doi:
Substances chimiques
RNA Splice Sites
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
342-345Subventions
Organisme : Intramural NIH HHS
ID : Z99 CA999999
Pays : United States
Informations de copyright
Published 2021. This article is a U.S. Government work and is in the public domain in the USA.
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