Evidence map›Paper›PMID 30602777›Full record

ArticleNature communications2019

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

IMEx Consortium Curators, N Del-Toro, M Duesbury, M Koch, L Perfetto, A Shrivastava, D Ochoa, O Wagih, J Piñero, M Kotlyar and 7 more

Erratum issuedAbstract readDataset
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

36 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Review
  6. What Have Data Standards Ever Done for Us?Molecular & cellular proteomics : MCP · 2025
    Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Resources and tools for rare disease variant interpretation.Frontiers in molecular biosciences · 2023
    Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

IMEx Consortium Curators
N Del-ToroEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.
M DuesburyEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.
M KochEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.
L PerfettoEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.
A ShrivastavaEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.ORCID http://orcid.org/0000-0002-7471-2663
D OchoaEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.ORCID http://orcid.org/0000-0003-1857-278X
O WagihEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.
J PiñeroResearch Programme on Biomedical Informatics (GRIB), Department of Experimental and Health Sciences (DCEXS), Hospital del Mar Medical Research Institute (IMIM), Universitat Pompeu Fabra (UPF), 08003, Barcelona, Spain.ORCID http://orcid.org/0000-0003-1244-7654
M KotlyarKrembil Research Institute, Data Science Discovery Centre for Chronic Diseases, University Health Network, 5KD-407, 60 Leonard Avenue, Toronto, ON, M5T 0S8, Canada.
C PastrelloKrembil Research Institute, Data Science Discovery Centre for Chronic Diseases, University Health Network, 5KD-407, 60 Leonard Avenue, Toronto, ON, M5T 0S8, Canada.ORCID http://orcid.org/0000-0002-1934-7472
P BeltraoEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.ORCID http://orcid.org/0000-0002-2724-7703
L I FurlongResearch Programme on Biomedical Informatics (GRIB), Department of Experimental and Health Sciences (DCEXS), Hospital del Mar Medical Research Institute (IMIM), Universitat Pompeu Fabra (UPF), 08003, Barcelona, Spain.
I JurisicaKrembil Research Institute, Data Science Discovery Centre for Chronic Diseases, University Health Network, 5KD-407, 60 Leonard Avenue, Toronto, ON, M5T 0S8, Canada.ORCID http://orcid.org/0000-0002-2507-946X
H HermjakobEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.ORCID http://orcid.org/0000-0001-8479-0262
S OrchardEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.
P PorrasEuropean Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK. pporras@ebi.ac.uk.ORCID http://orcid.org/0000-0002-8429-8793

Funding

Predictive Modeling & Optimal Control Framework for Model-Based Epidemic Response in DelawareP20GM103446 · NIGMS · UNIVERSITY OF DELAWARE · PI Anjana Narayan Bhat · 2012 to 2026
$67.2M
UniProt - Text Mining and Large Language models to Enhance Functional Annotation in UniProt of Protein Variants Associated with Alzheimer's DiseaseU24HG007822 · NHGRI · GEORGETOWN UNIVERSITY · PI Alex Bateman, Alan James Bridge · 2018 to 2026
$53.0M
Resource ProjectU41HG002273 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMAS, PAUL D. · 2012 to 2021
$34.7M
UniProt: A centralized protein sequence and function resourceU41HG007822 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI BATEMAN, ALEX · 2014 to 2017
$21.9M
PRO: A Protein Ontology in Open Biomedical OntologiesR01GM080646 · NIGMS · UNIVERSITY OF DELAWARE · PI WU, CATHY H. · 2007 to 2018
$8.9M
ENHANCING THE INTERNATIONAL MOLECULAR EXCHANGE (IMEX): PROVIDING AN IMPROVED COMMUNITY-ORIENTED MOLECULAR INTERACTIONS RESOURCER01GM123126 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI PELLEGRINI, MATTEO · 2018 to 2021
$2.0M
Semantic Literature Annotation and Integrative Panomics Analysis for PTM-Disease Knowledge Network DiscoveryU01GM120953 · NIGMS · UNIVERSITY OF DELAWARE · PI SHANKER, VIJAY K, WU, CATHY H. · 2016 to 2018
$1.1M
British Heart Foundation RG/13/5/30112NHGRI NIH HHS U24 HG007822NHGRI NIH HHS U41 HG002273NHGRI NIH HHS U41 HG007822NIGMS NIH HHS P20 GM103446NIGMS NIH HHS R01 GM080646NIGMS NIH HHS R01 GM123126NIGMS NIH HHS U01 GM120953
6 · The paper itself

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.

Indexed as

Amino Acid SubstitutionGenetic VariationMolecular Sequence AnnotationPoint MutationProtein Interaction MapsAnimalsDiseaseHumans

Identifiers

PMID30602777
PMCPMC6315030

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.