Evidence map›Paper›PMID 23793516›Full record

ArticleHuman genetics2013

MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures.

Noushin Niknafs, Dewey Kim, Ryangguk Kim, Mark Diekhans, Michael Ryan, Peter D Stenson, David N Cooper, Rachel Karchin

Abstract read
In one paragraph

Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing 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

46 citing papers in PubMed.

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  7. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
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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

8 authors.

Noushin NiknafsDepartment of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, 3400 N. Charles St., Baltimore, MD, USA.
Dewey Kim
Ryangguk Kim
Mark Diekhans
Michael Ryan
Peter D Stenson
David N Cooper
Rachel Karchin

Funding

UCSC-Buck Inst. Genome Data Analysis Center for TCGA Research Network (GDAC)U24CA143858 · NCI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI BENZ, CHRISTOPHER, HAUSSLER, DAVID H · 2009 to 2016
$8.9M
Tools for detecting biologically important sequence variation in cancerR21CA152432 · NCI · JOHNS HOPKINS UNIVERSITY · PI KARCHIN, RACHEL · 2011 to 2012
$383k
NCI NIH HHS 3U24CA143858-2S1NCI NIH HHS CA152432NCI NIH HHS R21 CA152432NCI NIH HHS U24 CA143858
6 · The paper itself

Abstract

Mutation position imaging toolbox (MuPIT) interactive is a browser-based application for single-nucleotide variants (SNVs), which automatically maps the genomic coordinates of SNVs onto the coordinates of available three-dimensional (3D) protein structures. The application is designed for interactive browser-based visualization of the putative functional relevance of SNVs by biologists who are not necessarily experts either in bioinformatics or protein structure. Users may submit batches of several thousand SNVs and review all protein structures that cover the SNVs, including available functional annotations such as binding sites, mutagenesis experiments, and common polymorphisms. Multiple SNVs may be mapped onto each structure, enabling 3D visualization of SNV clusters and their relationship to functionally annotated positions. We illustrate the utility of MuPIT interactive in rationalizing the impact of selected polymorphisms in the PharmGKB database, somatic mutations identified in the Cancer Genome Atlas study of invasive breast carcinomas, and rare variants identified in the exome sequencing project. MuPIT interactive is freely available for non-profit use at http://mupit.icm.jhu.edu .

Indexed as

Computational BiologyGenome, HumanMutationPolymorphism, Single NucleotideChromosome MappingDatabases, GeneticExomeGenomicsHumansInternetMolecular Sequence AnnotationNeoplasmsProtein ConformationSequence AlignmentSequence Analysis, DNASoftware

Identifiers

PMID23793516
PMCPMC3797853

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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.