Evidence map›Paper›PMID 26047810›Full record

ArticleBMC bioinformatics2015

Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism.

Sejal Patel, Paola Roncaglia, Ruth C Lovering

Open access · goldAbstract read
In one paragraph

Article in BMC bioinformatics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.5field-weighted citation impact, top 19% 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

11 citing papers in PubMed, 20 citations in OpenAlex.

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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

3 authors at 3 institutions in 2 countries.

Sejal PatelInstitute of Medical Science, University of Toronto, Medical Sciences Building, 1 King's College Circle, Toronto, M5S 1A8, Canada. sejalr.patel@mail.utoronto.ca.
Paola RoncagliaEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. paola@ebi.ac.uk.
Ruth C LoveringCentre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, Rayne Building, 5 University Street, London, WC1E 6JF, UK. r.lovering@ucl.ac.uk.
European Bioinformatics Institute · GBUniversity College London · GBUniversity of Toronto · CA

Funding

Resource ProjectU41HG002273 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMAS, PAUL D. · 2012 to 2021
$34.7M
Gene Ontology ConsortiumP41HG002273 · NHGRI · JACKSON LABORATORY · PI BLAKE, JUDITH A · 2004 to 2011
$27.4M
British Heart Foundation RG/13/5/30112British Heart Foundation SP/07/007/23671NHGRI NIH HHS 5P41HG002273-09NHGRI NIH HHS P41 HG002273NHGRI NIH HHS U41 HG002273Parkinson's UK G-1307
6 · The paper itself

Abstract

backgroundPeople with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic and environmental factors. Neurexins and neuroligins play a key role in synaptogenesis and neurexin-neuroligin adhesion is one of several processes that have been implicated in autism spectrum disorders.

resultsIn this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database.

conclusionsThe manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. Comprehensive gene annotation is an essential aspect of genomic and proteomic studies, as the quality of gene annotations incorporated into statistical analysis tools affects the effective interpretation of data obtained through genome wide association studies, next generation sequencing, proteomic and transcriptomic datasets.

Indexed as

Cell Physiological PhenomenaGene OntologyAnimalsAutistic DisorderCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalGenomeGenomicsHigh-Throughput Nucleotide SequencingHumansMembrane PotentialsMiceModels, MolecularNerve Tissue ProteinsNeural Cell Adhesion MoleculesPhenotypeCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalNerve Tissue ProteinsNeural Cell Adhesion Moleculesneuroligin 1NRXN1 protein, humanSHANK2 protein, human

Identifiers

PMID26047810
PMCPMC4458007
OpenAlexW2140424919

What OpenQuestion holds

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LicenceCC BY
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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.