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m6AVar: a database of functional variants involved in m6A modification
Yueyuan Zheng1,2, Peng Nie2, Di Peng2
1Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University, Guangzhou 510060, China.
Nucleic Acids Research
|October 17, 2017
Summary
m6AVar is a new database that catalogs N6-methyladenosine (m6A)-associated variants. This resource aids in understanding how these variants impact m6A modification and disease, facilitating variant interpretation.
Area of Science:
- Genomics
- Molecular Biology
- Bioinformatics
Background:
- Identifying disease-causing single nucleotide variants (SNVs) remains a significant challenge.
- N6-methyladenosine (m6A) modification is crucial in biological processes and diseases, making its variants important research targets.
Purpose of the Study:
- To develop m6AVar, a comprehensive database for m6A-associated variants.
- To facilitate the interpretation of variants by understanding their effects on m6A modification and function.
Main Methods:
- Collected m6A-associated variants from high (miCLIP/PA-m6A-seq), medium (MeRIP-Seq), and low (transcriptome-wide predictions) confidence sources.
- Integrated data on RBP-binding regions, miRNA-targets, and splicing sites.
- Incorporated genome-wide association studies (GWAS) and ClinVar data.
Main Results:
- m6AVar currently houses 16,132 high, 71,321 medium, and 326,915 low confidence m6A-associated variants.
- The database links variants to post-transcriptional regulatory elements.
- It connects m6A variants with disease information through GWAS and ClinVar data integration.
Conclusions:
- m6AVar serves as a valuable resource for annotating variants.
- The database aids in identifying disease-causing variants by linking them to m6A modification and disease association.
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