Evidence map›Paper›PMID 23921638›Full record

ArticleNucleic acids research2013

Concordance of gene expression in human protein complexes reveals tissue specificity and pathology.

Daniela Börnigen, Tune H Pers, Lieven Thorrez, Curtis Huttenhower, Yves Moreau, Søren Brunak

Open access · goldAbstract read
In one paragraph

Article in Nucleic acids research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.1field-weighted citation impact, top 13% of its field
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

13 citing papers in PubMed, 27 citations in OpenAlex.

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  10. Systems Medicine as an Emerging Tool for Cardiovascular Genetics.Frontiers in cardiovascular medicine · 2016
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 5 institutions in 3 countries.

Daniela BörnigenDepartment of Electrical Engineering, ESAT-SCD, IBBT-KU Leuven Future Health Department, KU Leuven, 3001 Leuven, Belgium, Biostatistics Department, Harvard School of Public Health, Harvard University, Boston, 02115 MA, USA, Broad Institute of MIT and Harvard, Cambridge, 02142 MA, USA, Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, DK-2800 Lyngby, Denmark, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, 02142 MA, USA, Division of Endocrinology and Center for Basic and Translational Obesity Research, Children's Hospital Boston, Boston, 02115 MA, USA, Department of Development and Regeneration @ Kulak, KU Leuven, E. Sabbelaan 53, 8500 Kortrijk, Belgium, and NNF Center for Protein Research, Health Sciences Faculty, University of Copenhagen, DK-2200 Copenhagen, Denmark.
Tune H Pers
Lieven Thorrez
Curtis Huttenhower
Yves Moreau
Søren Brunak
Broad Institute · USHarvard University Press · USKU Leuven · BETechnical University of Denmark · DKUniversity of Copenhagen · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Disease-causing variants in human genes usually lead to phenotypes specific to only a few tissues. Here, we present a method for predicting tissue specificity based on quantitative deregulation of protein complexes. The underlying assumption is that the degree of coordinated expression among proteins in a complex within a given tissue may pinpoint tissues that will be affected by a mutation in the complex and coordinated expression may reveal the complex to be active in the tissue. We identified known disease genes and their protein complex partners in a high-quality human interactome. Each susceptibility gene's tissue involvement was ranked based on coordinated expression with its interaction partners in a non-disease global map of human tissue-specific expression. The approach demonstrated high overall area under the curve (0.78) and was very successfully benchmarked against a random model and an approach not using protein complexes. This was illustrated by correct tissue predictions for three case studies on leptin, insulin-like-growth-factor 2 and the inhibitor of NF-κB kinase subunit gamma that show high concordant expression in biologically relevant tissues. Our method identifies novel gene-phenotype associations in human diseases and predicts the tissues where associated phenotypic effects may arise.

Indexed as

DiseaseGene ExpressionHumansLamin Type AMultiprotein ComplexesOrgan SpecificityPhenotypeProtein Interaction MappingLamin Type ALMNA protein, humanMultiprotein Complexes

Identifiers

PMID23921638
PMCPMC3794609
OpenAlexW2133696655

What OpenQuestion holds

Textmetadata
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.