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

被引：46

作者：

del-Toro, N. ^{[1
]}

Duesbury, M. ^{[1
]}

Koch, M. ^{[1
,2
]}

Perfetto, L. ^{[1
]}

Shrivastava, A. ^{[1
]}

Ochoa, D. ^{[1
]}

Wagih, O. ^{[1
,3
]}

Pinero, J. ^{[4
]}

Kotlyar, M. ^{[5
]}

Pastrello, C. ^{[5
]}

Beltrao, P. ^{[1
]}

Furlong, L. I. ^{[4
]}

Jurisica, I. ^{[5
,6
,7
]}

Hermjakob, H. ^{[1
,8
]}

Orchard, S. ^{[1
]}

Porras, P. ^{[1
]}

Khadake, J. ^{[1
]}

Meldal, B. ^{[1
]}

Panni, S. ^{[9
]}

Thorneycroft, D. ^{[1
]}

Van Roey, K. ^{[1
]}

Abbani, S. ^{[10
]}

Salwinski, L. ^{[10
]}

Pellegrini, M. ^{[10
]}

Iannuccelli, M. ^{[11
]}

Licata, L. ^{[11
]}

Cesareni, G. ^{[11
]}

Roechert, B. ^{[12
]}

Bridge, A. ^{[12
]}

Ammari, M. G. ^{[13
]}

McCarthy, F. ^{[13
]}

Broackes-Carter, F. ^{[5
]}

Campbell, N. H. ^{[14
]}

Melidoni, A. N. ^{[1
,14
]}

Rodriguez-Lopez, M. ^{[1
,14
]}

Lovering, R. C. ^{[14
]}

Jagannathan, S. ^{[15
]}

Chen, C. ^{[16
]}

Lynn, D. J. ^{[17
,18
]}

Ricard-Blum, S. ^{[19
]}

Mahadevan, U. ^{[20
]}

Raghunath, A. ^{[20
]}

机构：

[1] European Mol Biol Lab, European Bioinformat Inst EMBL EBI, Wellcome Genome Campus, Hinxton CB10 1SD, England

[2] NIBR, Maulbeerstr 66, CH-4058 Basel, Canton Of Basel, Switzerland

[3] MaRS Ctr, Deep Genom, 661 Univ Ave,Suite 480, Toronto, ON M5G IM1, Canada

[4] UPF, Res Programme Biomed Informat GRIB, Dept Expt & Hlth Sci DCEXS, Hosp Mar Med Res Inst IMIM, Barcelona 08003, Spain

[5] Univ Hlth Network, Krembil Res Inst, Data Sci Discovery Ctr Chron Dis, 5KD 407,60 Leonard Ave, Toronto, ON M5T 0S8, Canada

[6] Univ Toronto, Dept Med Biophys, Toronto, ON M4B 1B5, Canada

[7] Univ Toronto, Dept Comp Sci, Toronto, ON M4B 1B5, Canada

[8] Beijing Inst Life Omics, State Key Lab Prote, Beijing Proteome Res Ctr, Natl Ctr Prot Sci, Beijing 102206, Peoples R China

[9] Univ Calabria, DiBEST Dept, Via Pietro Bucci, I-87036 Arcavacata Di Rende, CS, Italy

[10] Univ Calif Los Angeles, Los Angeles Dept Energy, Inst Genom & Prote, Los Angeles, CA 90001 USA

[11] Univ Roma Tor Vergata, Dept Biol, Via Ric Sci, I-00118 Rome, Italy

[12] SIB, Swiss Prot Grp, CMU 1,Rue Michel Servet, CH-1211 Geneva 4, Switzerland

[13] Univ Arizona, Sch Anim & Comparat Biomed Sci, Tucson, AZ 85721 USA

[14] UCL, Funct Gene Annotat, Inst Cardiovasc Sci, London, England

[15] Natl Univ Singapore, Mechanobiol Inst, I Lab 05-01,5A Engn Dr 1, Singapore 117411, Singapore

[16] Univ British Columbia, Ctr Microbial Dis & Immun Res, Lower Mall, Vancouver, BC, Canada

[17] South Australian Hlth & Med Res Inst, EMBL Australia Grp, North Terrace, Adelaide, SA 5001, Australia

[18] Flinders Univ S Australia, Coll Med & Publ Hlth, Bedford Pk, SA 5042, Australia

[19] Univ Lyon 1, Univ Lyon, ICBMS, UMR 5246,CNRS, F-69622 Lyon, France

[20] Mol Connect Pvt Ltd, 2-2 Kariappa Rd, Bangalore 560004, Karnataka, India

来源：

NATURE COMMUNICATIONS | 2019年 / 10卷 / 1期

基金：

加拿大创新基金会; 美国国家卫生研究院; 欧盟地平线“2020”; 欧洲研究理事会; 欧盟第七框架计划;

关键词：

PROTEIN FUNCTION; PLATFORM; VARIANTS; CURATION; CLUSTERS; UNIPROT;

D O I：

10.1038/s41467-018-07709-6

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页数：14

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