RT Journal Article
SR Electronic
T1 Capturing variation impact on molecular interactions: the IMEx Consortium mutations data set
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 346833
DO 10.1101/346833
A1 The IMEx Consortium Curators
A1 N del Toro
A1 M Duesbury
A1 M Koch
A1 L Perfetto
A1 A Shrivastava
A1 D Ochoa
A1 O Wagih
A1 J Piñero
A1 M Kotlyar
A1 C Pastrello
A1 P Beltrao
A1 LI Furlong
A1 I Jurisica
A1 H Hermjakob
A1 S Orchard
A1 P Porras
YR 2018
UL http://biorxiv.org/content/early/2018/06/22/346833.abstract
AB The current wealth of genomic variation data identified at the nucleotide level has provided us with 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 amino acid variation of a molecule’s sequence has on its molecular interactions is a key step towards connecting a full mechanistic characterization of nonsynonymous variation to cellular phenotype. Here we present an open access resource created by IMEx database curators over 14 years, featuring 28,000 annotations fully describing the effect of individual point sequence changes on physical protein interactions. We describe how this resource was built, the formats in which the data content is provided and offer a descriptive analysis of the data set. The data set is publicly available through the IntAct website at www.ebi.ac.uk/intact/resources/datasets#mutationDs and is being enhanced with every monthly release.ContributionsS.O. and P.P. designed this study and wrote the manuscript. The IMEx Consortium curators generated the mutation annotations. M.D., S.O., M. Koch, N.dT., A.S. and P.P. re-curated the data set and implemented semi-automated quality control procedures. L.P., D.O., O.W., C.P., M. Kotlyar, J.P. and P.P. analysed the data. S.O., H.H., P.B., L.I.F., I.J. and P.P. interpreted the results and revised the manuscript.