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Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set

Author

Listed:
  • N. del-Toro

    (European Molecular Biology Laboratory)

  • M. Duesbury

    (European Molecular Biology Laboratory)

  • M. Koch

    (European Molecular Biology Laboratory
    Novartis Institutes for BioMedical Research (NIBR))

  • L. Perfetto

    (European Molecular Biology Laboratory)

  • A. Shrivastava

    (European Molecular Biology Laboratory)

  • D. Ochoa

    (European Molecular Biology Laboratory)

  • O. Wagih

    (European Molecular Biology Laboratory
    MaRS Centre)

  • J. Piñero

    (Universitat Pompeu Fabra (UPF))

  • M. Kotlyar

    (Data Science Discovery Centre for Chronic Diseases)

  • C. Pastrello

    (Data Science Discovery Centre for Chronic Diseases)

  • P. Beltrao

    (European Molecular Biology Laboratory)

  • L. I. Furlong

    (Universitat Pompeu Fabra (UPF))

  • I. Jurisica

    (Data Science Discovery Centre for Chronic Diseases
    University of Toronto)

  • H. Hermjakob

    (European Molecular Biology Laboratory
    Beijing Institute of Life Omics)

  • S. Orchard

    (European Molecular Biology Laboratory)

  • P. Porras

    (European Molecular Biology Laboratory)

Abstract

The current wealth of genomic variation data identified at nucleotide level presents the challenge of understanding by which mechanisms amino acid variation affects cellular processes. These effects may manifest as distinct phenotypic differences between individuals or result in the development of disease. Physical interactions between molecules are the linking steps underlying most, if not all, cellular processes. Understanding the effects that sequence variation has on a molecule’s interactions is a key step towards connecting mechanistic characterization of nonsynonymous variation to phenotype. We present an open access resource created over 14 years by IMEx database curators, featuring 28,000 annotations describing the effect of small sequence changes on physical protein interactions. We describe how this resource was built, the formats in which the data is provided and offer a descriptive analysis of the data set. The data set is publicly available through the IntAct website and is enhanced with every monthly release.

Suggested Citation

  • N. del-Toro & M. Duesbury & M. Koch & L. Perfetto & A. Shrivastava & D. Ochoa & O. Wagih & J. Piñero & M. Kotlyar & C. Pastrello & P. Beltrao & L. I. Furlong & I. Jurisica & H. Hermjakob & S. Orchard , 2019. "Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set," Nature Communications, Nature, vol. 10(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-018-07709-6
    DOI: 10.1038/s41467-018-07709-6
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