Literature DB >> 23793516

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

Noushin Niknafs1, Dewey Kim, Ryangguk Kim, Mark Diekhans, Michael Ryan, Peter D Stenson, David N Cooper, Rachel Karchin.   

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 .

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Year:  2013        PMID: 23793516      PMCID: PMC3797853          DOI: 10.1007/s00439-013-1325-0

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  42 in total

1.  The Protein Data Bank.

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Journal:  Nucleic Acids Res       Date:  2000-01-01       Impact factor: 16.971

2.  NAT2 slow acetylation and bladder cancer risk: a meta-analysis of 22 case-control studies conducted in the general population.

Authors:  P M Marcus; P Vineis; N Rothman
Journal:  Pharmacogenetics       Date:  2000-03

3.  Prediction of deleterious human alleles.

Authors:  S Sunyaev; V Ramensky; I Koch; W Lathe; A S Kondrashov; P Bork
Journal:  Hum Mol Genet       Date:  2001-03-15       Impact factor: 6.150

4.  BLAT--the BLAST-like alignment tool.

Authors:  W James Kent
Journal:  Genome Res       Date:  2002-04       Impact factor: 9.043

5.  SIFT: Predicting amino acid changes that affect protein function.

Authors:  Pauline C Ng; Steven Henikoff
Journal:  Nucleic Acids Res       Date:  2003-07-01       Impact factor: 16.971

6.  The three-dimensional structure of the human Pi class glutathione transferase P1-1 in complex with the inhibitor ethacrynic acid and its glutathione conjugate.

Authors:  A J Oakley; J Rossjohn; M Lo Bello; A M Caccuri; G Federici; M W Parker
Journal:  Biochemistry       Date:  1997-01-21       Impact factor: 3.162

7.  NAT2 slow acetylation and GSTM1 null genotypes may increase postmenopausal breast cancer risk in long-term smoking women.

Authors:  Olga L van der Hel; Petra H M Peeters; David W Hein; Mark A Doll; Diederick E Grobbee; Daan Kromhout; H Bas Bueno de Mesquita
Journal:  Pharmacogenetics       Date:  2003-07

Review 8.  Chk1 and Chk2 kinases in checkpoint control and cancer.

Authors:  Jiri Bartek; Jiri Lukas
Journal:  Cancer Cell       Date:  2003-05       Impact factor: 31.743

Review 9.  A census of human cancer genes.

Authors:  P Andrew Futreal; Lachlan Coin; Mhairi Marshall; Thomas Down; Timothy Hubbard; Richard Wooster; Nazneen Rahman; Michael R Stratton
Journal:  Nat Rev Cancer       Date:  2004-03       Impact factor: 60.716

10.  A multivariate analysis of genomic polymorphisms: prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer.

Authors:  J Stoehlmacher; D J Park; W Zhang; D Yang; S Groshen; S Zahedy; H-J Lenz
Journal:  Br J Cancer       Date:  2004-07-19       Impact factor: 7.640

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  39 in total

1.  PertInInt: An Integrative, Analytical Approach to Rapidly Uncover Cancer Driver Genes with Perturbed Interactions and Functionalities.

Authors:  Shilpa Nadimpalli Kobren; Bernard Chazelle; Mona Singh
Journal:  Cell Syst       Date:  2020-07-14       Impact factor: 10.304

2.  Significant abundance of cis configurations of coding variants in diploid human genomes.

Authors:  Margret R Hoehe; Ralf Herwig; Qing Mao; Brock A Peters; Radoje Drmanac; George M Church; Thomas Huebsch
Journal:  Nucleic Acids Res       Date:  2019-04-08       Impact factor: 16.971

3.  Annotating Mutational Effects on Proteins and Protein Interactions: Designing Novel and Revisiting Existing Protocols.

Authors:  Minghui Li; Alexander Goncearenco; Anna R Panchenko
Journal:  Methods Mol Biol       Date:  2017

4.  StructMAn: annotation of single-nucleotide polymorphisms in the structural context.

Authors:  Alexander Gress; Vasily Ramensky; Joachim Büch; Andreas Keller; Olga V Kalinina
Journal:  Nucleic Acids Res       Date:  2016-05-05       Impact factor: 16.971

5.  Systematic Functional Annotation of Somatic Mutations in Cancer.

Authors:  Patrick Kwok-Shing Ng; Jun Li; Kang Jin Jeong; Shan Shao; Hu Chen; Yiu Huen Tsang; Sohini Sengupta; Zixing Wang; Venkata Hemanjani Bhavana; Richard Tran; Stephanie Soewito; Darlan Conterno Minussi; Daniela Moreno; Kathleen Kong; Turgut Dogruluk; Hengyu Lu; Jianjiong Gao; Collin Tokheim; Daniel Cui Zhou; Amber M Johnson; Jia Zeng; Carman Ka Man Ip; Zhenlin Ju; Matthew Wester; Shuangxing Yu; Yongsheng Li; Christopher P Vellano; Nikolaus Schultz; Rachel Karchin; Li Ding; Yiling Lu; Lydia Wai Ting Cheung; Ken Chen; Kenna R Shaw; Funda Meric-Bernstam; Kenneth L Scott; Song Yi; Nidhi Sahni; Han Liang; Gordon B Mills
Journal:  Cancer Cell       Date:  2018-03-12       Impact factor: 31.743

6.  Computational approaches to identify functional genetic variants in cancer genomes.

Authors:  Abel Gonzalez-Perez; Ville Mustonen; Boris Reva; Graham R S Ritchie; Pau Creixell; Rachel Karchin; Miguel Vazquez; J Lynn Fink; Karin S Kassahn; John V Pearson; Gary D Bader; Paul C Boutros; Lakshmi Muthuswamy; B F Francis Ouellette; Jüri Reimand; Rune Linding; Tatsuhiro Shibata; Alfonso Valencia; Adam Butler; Serge Dronov; Paul Flicek; Nick B Shannon; Hannah Carter; Li Ding; Chris Sander; Josh M Stuart; Lincoln D Stein; Nuria Lopez-Bigas
Journal:  Nat Methods       Date:  2013-08       Impact factor: 28.547

7.  CRAVAT 4: Cancer-Related Analysis of Variants Toolkit.

Authors:  David L Masica; Christopher Douville; Collin Tokheim; Rohit Bhattacharya; RyangGuk Kim; Kyle Moad; Michael C Ryan; Rachel Karchin
Journal:  Cancer Res       Date:  2017-11-01       Impact factor: 12.701

8.  Mutation near the binding interfaces at α-hemoglobin stabilizing protein is highly pathogenic.

Authors:  Jesu Francis Borgio; Mohammed S Al-Madan; Sayed AbdulAzeez
Journal:  Am J Transl Res       Date:  2016-10-15       Impact factor: 4.060

9.  Exome-Scale Discovery of Hotspot Mutation Regions in Human Cancer Using 3D Protein Structure.

Authors:  Collin Tokheim; Rohit Bhattacharya; Noushin Niknafs; Derek M Gygax; Rick Kim; Michael Ryan; David L Masica; Rachel Karchin
Journal:  Cancer Res       Date:  2016-04-28       Impact factor: 12.701

10.  Protein-structure-guided discovery of functional mutations across 19 cancer types.

Authors:  Beifang Niu; Adam D Scott; Sohini Sengupta; Matthew H Bailey; Prag Batra; Jie Ning; Matthew A Wyczalkowski; Wen-Wei Liang; Qunyuan Zhang; Michael D McLellan; Sam Q Sun; Piyush Tripathi; Carolyn Lou; Kai Ye; R Jay Mashl; John Wallis; Michael C Wendl; Feng Chen; Li Ding
Journal:  Nat Genet       Date:  2016-06-13       Impact factor: 38.330

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