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


Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
02 01 2019
Historique:
received: 22 06 2018
accepted: 15 11 2018
entrez: 4 1 2019
pubmed: 4 1 2019
medline: 14 2 2019
Statut: epublish

Résumé

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.

Identifiants

pubmed: 30602777
doi: 10.1038/s41467-018-07709-6
pii: 10.1038/s41467-018-07709-6
pmc: PMC6315030
doi:

Types de publication

Dataset Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

10

Subventions

Organisme : British Heart Foundation
ID : RG/13/5/30112
Pays : United Kingdom
Organisme : NIGMS NIH HHS
ID : R01 GM080646
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG002273
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM123126
Pays : United States
Organisme : NIGMS NIH HHS
ID : U01 GM120953
Pays : United States
Organisme : NIGMS NIH HHS
ID : P20 GM103446
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG007822
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG007822
Pays : United States

Investigateurs

J Khadake (J)
B Meldal (B)
S Panni (S)
D Thorneycroft (D)
K van Roey (K)
S Abbani (S)
L Salwinski (L)
M Pellegrini (M)
M Iannuccelli (M)
L Licata (L)
G Cesareni (G)
B Roechert (B)
A Bridge (A)
M G Ammari (MG)
F McCarthy (F)
F Broackes-Carter (F)
N H Campbell (NH)
A N Melidoni (AN)
M Rodriguez-Lopez (M)
R C Lovering (RC)
S Jagannathan (S)
C Chen (C)
D J Lynn (DJ)
S Ricard-Blum (S)
U Mahadevan (U)
A Raghunath (A)

Commentaires et corrections

Type : ErratumIn

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Auteurs

N Del-Toro (N)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.

M Duesbury (M)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.

M Koch (M)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.
Novartis Institutes for BioMedical Research (NIBR), Maulbeerstrasse 66, 4058, Basel, Canton of Basel-Stadt, Switzerland.

L Perfetto (L)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.

A Shrivastava (A)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.

D Ochoa (D)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.

O Wagih (O)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.
Deep Genomics, MaRS Centre, 661 University Ave, Suite 480, Toronto, ON, M5G 1M1, Canada.

J Piñero (J)

Research 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.

M Kotlyar (M)

Krembil Research Institute, Data Science Discovery Centre for Chronic Diseases, University Health Network, 5KD-407, 60 Leonard Avenue, Toronto, ON, M5T 0S8, Canada.

C Pastrello (C)

Krembil Research Institute, Data Science Discovery Centre for Chronic Diseases, University Health Network, 5KD-407, 60 Leonard Avenue, Toronto, ON, M5T 0S8, Canada.

P Beltrao (P)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.

L I Furlong (LI)

Research 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 Jurisica (I)

Krembil Research Institute, Data Science Discovery Centre for Chronic Diseases, University Health Network, 5KD-407, 60 Leonard Avenue, Toronto, ON, M5T 0S8, Canada.
Departments of Medical Biophysics and Computer Science, University of Toronto, Toronto, M4B 1B5, Canada.

H Hermjakob (H)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.
State Key Laboratory of Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences, Beijing Institute of Life Omics, 102206, Beijing, China.

S Orchard (S)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK.

P Porras (P)

European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, CB10 1SD, UK. pporras@ebi.ac.uk.

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