ArticleNucleic acids research2018
ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteins.
Article in Nucleic acids research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
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Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Current computational tools for protein lysine acylation site prediction.Briefings in bioinformatics · 2024Pooled it
- A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.Asian Pacific journal of cancer prevention : APJCP · 2024Pooled it
- Deviations from genetic additivity driven by rare variants at biobank scale.Nature communications · 2026Article
- ADAM9: an updated view of its biology and pathology.Molecular biology reports · 2026Review
- DrugPTM-Bench: A Large-Scale Dataset for Predictive Modeling of Drug-Induced Cell Type-Specific Protein Post-Translational Modifications.bioRxiv : the preprint server for biology · 2026Article
- Utilization of whole exome sequencing to identify hereditary mutations in Palestinian families with hereditary cancers.Frontiers in genetics · 2026Article
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- Protein structural domain-disease association prediction based on heterogeneous networks.BMC genomics · 2025Article
- DynamicJournal of the American Chemical Society · 2025Article
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- Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors.Human genomics · 2024Article
- Review
- Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors.bioRxiv : the preprint server for biology · 2024Article
- TransPTM: a transformer-based model for non-histone acetylation site prediction.Briefings in bioinformatics · 2024Article
- A Computational Approach: The Functional Effects of Thyroid Peroxidase Variants in Thyroid Cancer and Genetic Disorders.JCO clinical cancer informatics · 2024Article
- Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL.Molecular genetics and metabolism reports · 2023Article
- VIPpred: a novel model for predicting variant impact on phosphorylation events driving carcinogenesis.Briefings in bioinformatics · 2023Article
- Pervasive mislocalization of pathogenic coding variants underlying human disorders.bioRxiv : the preprint server for biology · 2023Article
- Modeling Side Chains in the Three-Dimensional Structure of Proteins for Post-Translational Modifications.International journal of molecular sciences · 2023Article
- Article
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9 authors.
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Abstract
Interpretation of genetic variation is needed for deciphering genotype-phenotype associations, mechanisms of inherited disease, and cancer driver mutations. Millions of single nucleotide variants (SNVs) in human genomes are known and thousands are associated with disease. An estimated 21% of disease-associated amino acid substitutions corresponding to missense SNVs are located in protein sites of post-translational modifications (PTMs), chemical modifications of amino acids that extend protein function. ActiveDriverDB is a comprehensive human proteo-genomics database that annotates disease mutations and population variants through the lens of PTMs. We integrated >385,000 published PTM sites with ∼3.6 million substitutions from The Cancer Genome Atlas (TCGA), the ClinVar database of disease genes, and human genome sequencing projects. The database includes site-specific interaction networks of proteins, upstream enzymes such as kinases, and drugs targeting these enzymes. We also predicted network-rewiring impact of mutations by analyzing gains and losses of kinase-bound sequence motifs. ActiveDriverDB provides detailed visualization, filtering, browsing and searching options for studying PTM-associated mutations. Users can upload mutation datasets interactively and use our application programming interface in pipelines. Integrative analysis of mutations and PTMs may help decipher molecular mechanisms of phenotypes and disease, as exemplified by case studies of TP53, BRCA2 and VHL. The open-source database is available at https://www.ActiveDriverDB.org.
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