ArticleNucleic acids research2014
Human germline and pan-cancer variomes and their distinct functional profiles.
Article in Nucleic acids research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Toll like receptor 4 (TLR4) in neuroinflammation: From acute hemorrhagic stroke to chronic neurodegeneration.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- GlyGen: a knowledgebase linking glycan data with protein and gene data to reveal novel biological connections.Research square · 2026Article
- Predictive Analysis and Validation of Critical Missense SNPs of theInternational journal of molecular sciences · 2025Review
- Human CEACAM1 N-domain dimerization is independent from glycan modifications.Structure (London, England : 1993) · 2022Article
- Mutations inInternational journal of molecular sciences · 2021Article
- Scanning window analysis of non-coding regions within normal-tumor whole-genome sequence samples.Briefings in bioinformatics · 2021Article
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- Sequence analysis of the ATP synthase of subunits (Mitochondrial DNA. Part B, Resources · 2018Article
- Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.Scientific reports · 2018Article
- BioMuta and BioXpress: mutation and expression knowledgebases for cancer biomarker discovery.Nucleic acids research · 2018Article
- Proposed Terminology and Classification of Pre-Malignant Neoplastic Conditions: A Consensus Proposal.EBioMedicine · 2017Review
- Impact of germline and somatic missense variations on drug binding sites.The pharmacogenomics journal · 2017Article
- Advancing Public Health Using Regulatory Science to Enhance Development and Regulation of Medical Products: Food and Drug Administration Research at the Center for Biologics Evaluation and Research.Frontiers in medicine · 2017Review
- Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.Briefings in bioinformatics · 2016Review
- The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.PLoS computational biology · 2016Article
- An Atlas of the Human Kinome Reveals the Mutational Landscape Underlying Dysregulated Phosphorylation Cascades in Cancer.Cancer research · 2016Article
- Systematic Analysis of the Genetic Variability That Impacts SUMO Conjugation and Their Involvement in Human Diseases.Scientific reports · 2015Article
- Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis.Database : the journal of biological databases and curation · 2015Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Identification of non-synonymous single nucleotide variations (nsSNVs) has exponentially increased due to advances in Next-Generation Sequencing technologies. The functional impacts of these variations have been difficult to ascertain because the corresponding knowledge about sequence functional sites is quite fragmented. It is clear that mapping of variations to sequence functional features can help us better understand the pathophysiological role of variations. In this study, we investigated the effect of nsSNVs on more than 17 common types of post-translational modification (PTM) sites, active sites and binding sites. Out of 1 705 285 distinct nsSNVs on 259 216 functional sites we identified 38 549 variations that significantly affect 10 major functional sites. Furthermore, we found distinct patterns of site disruptions due to germline and somatic nsSNVs. Pan-cancer analysis across 12 different cancer types led to the identification of 51 genes with 106 nsSNV affected functional sites found in 3 or more cancer types. 13 of the 51 genes overlap with previously identified Significantly Mutated Genes (Nature. 2013 Oct 17;502(7471)). 62 mutations in these 13 genes affecting functional sites such as DNA, ATP binding and various PTM sites occur across several cancers and can be prioritized for additional validation and investigations.
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