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

Noemí Del-Toro, Margaret J. Duesbury, Maximilian Koch, Livia Perfetto, A. R Shrivastava, David Ochoa, Omar Wagih, Janet Piñero, Max Kotlyar, Chiara Pastrello, Pedro Beltrão, Laura Inés Furlong, Igor Jurisica, Henning Hermjakob, Sandra E. Orchard, Pablo Porras, Jyoti Khadake, Birgit H.M. Meldal, Simona Panni, David ThorneycroftKim Van Roey, Sara Abbani, Lukasz Salwínski, Matteo Pellegrini, Marta Iannuccelli, Luana Licata, Gianni Cesareni, Bernd Roechert, Alan James Bridge, Mais G. Ammari, Fiona M. McCarthy, Fiona C. Broackes-Carter, Nancy H. Campbell, Anna N. Melidoni, Milagros Rodriguez-Lopez, Ruth C. Lovering, Sruthi Jagannathan, Carol Chen, David J. Lynn, Sylvie Ricard-Blum, Usha Mahadevan, Arathi Raghunath

    Research output: Contribution to journalArticle

    8 Citations (Scopus)

    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.

    Original languageEnglish
    Article number10
    JournalNature Communications
    Volume10
    Issue number1
    DOIs
    Publication statusPublished - 2019

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  • Cite this

    Del-Toro, N., Duesbury, M. J., Koch, M., Perfetto, L., Shrivastava, A. R., Ochoa, D., Wagih, O., Piñero, J., Kotlyar, M., Pastrello, C., Beltrão, P., Furlong, L. I., Jurisica, I., Hermjakob, H., Orchard, S. E., Porras, P., Khadake, J., Meldal, B. H. M., Panni, S., ... Raghunath, A. (2019). Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set. Nature Communications, 10(1), [10]. https://doi.org/10.1038/s41467-018-07709-6