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dbDSM: a manually curated database for deleterious synonymous mutations.

Pengbo Wen1, Peng Xiao1, Junfeng Xia2

  • 1Institute of Health Sciences, School of Life Sciences, Anhui University, Hefei, Anhui 230601, China and.

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Summary
This summary is machine-generated.

Synonymous mutations (SMs) can impact gene function and cause disease, contrary to previous assumptions. A new database, dbDSM, now curates and provides access to disease-related SM data for researchers.

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Area of Science:

  • Genetics and Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Synonymous mutations (SMs) were historically considered functionally neutral, altering DNA sequence without changing protein amino acid sequence.
  • Emerging evidence indicates SMs can affect gene expression through mechanisms like splicing, mRNA stability, and translation fidelity, and are linked to human diseases.
  • A significant gap existed in specialized databases for disease-associated SMs.

Purpose of the Study:

  • To develop and present dbDSM, a comprehensive database for human disease-related synonymous mutations.
  • To consolidate existing knowledge on SMs implicated in human pathologies.
  • To provide a valuable resource for researchers investigating the role of SMs in disease.

Main Methods:

  • Compiled data from multiple sources including ClinVar, GRASP, GWAS Catalog, PubMed, and Web of Knowledge.
  • Curated and managed synonymous mutation and disease association data.
  • Developed a continually updated, publicly accessible online database.

Main Results:

  • The current release of dbDSM contains 1936 SM-disease association entries.
  • These entries include 1289 distinct synonymous mutations and 443 human diseases.
  • The database provides download links for all data and a submission portal for new entries.

Conclusions:

  • dbDSM serves as a centralized, continually updated resource for disease-related synonymous mutations.
  • This database facilitates further investigation into the functional roles and disease implications of SMs.
  • dbDSM aims to be a valuable tool for geneticists, molecular biologists, and bioinformaticians.