Literature DB >> 27310656

PTENpred: A Designer Protein Impact Predictor for PTEN-related Disorders.

Sean B Johnston1, Ronald T Raines1,2.   

Abstract

Connecting a genotype with a phenotype can provide immediate advantages in the context of modern medicine. Especially useful would be an algorithm for predicting the impact of nonsynonymous single-nucleotide polymorphisms in the gene for PTEN, a protein that is implicated in most human cancers and connected to germline disorders that include autism. We have developed a protein impact predictor, PTENpred, that integrates data from multiple analyses using a support vector machine algorithm. PTENpred can predict phenotypes related to a human PTEN mutation with high accuracy. The output of PTENpred is designed for use by biologists, clinicians, and laymen, and features an interactive display of the three-dimensional structure of PTEN. Using knowledge about the structure of proteins, in general, and the PTEN protein, in particular, enables the prediction of consequences from damage to the human PTEN gene. This algorithm, which can be accessed online, could facilitate the implementation of effective therapeutic regimens for cancer and other diseases.

Entities:  

Keywords:  autism; cancer; mutation; phosphatase and tensin homolog deleted from chromosome ten; support vector machine algorithm.

Mesh:

Substances:

Year:  2016        PMID: 27310656      PMCID: PMC5144848          DOI: 10.1089/cmb.2016.0058

Source DB:  PubMed          Journal:  J Comput Biol        ISSN: 1066-5277            Impact factor:   1.479


  27 in total

1.  dbSNP: the NCBI database of genetic variation.

Authors:  S T Sherry; M H Ward; M Kholodov; J Baker; L Phan; E M Smigielski; K Sirotkin
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

Review 2.  The functions and regulation of the PTEN tumour suppressor.

Authors:  Min Sup Song; Leonardo Salmena; Pier Paolo Pandolfi
Journal:  Nat Rev Mol Cell Biol       Date:  2012-04-04       Impact factor: 94.444

3.  A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

Authors:  Isabel Rodríguez-Escudero; María D Oliver; Amparo Andrés-Pons; María Molina; Víctor J Cid; Rafael Pulido
Journal:  Hum Mol Genet       Date:  2011-08-09       Impact factor: 6.150

4.  Classifying variants of CDKN2A using computational and laboratory studies.

Authors:  Peter J Miller; Sekhar Duraisamy; Joan A Newell; Philip A Chan; Mark M Tie; Amy E Rogers; Claire K Ankuda; Genevieve M von Walstrom; Jeffrey P Bond; Marc S Greenblatt
Journal:  Hum Mutat       Date:  2011-08       Impact factor: 4.878

5.  Human non-synonymous SNPs: server and survey.

Authors:  Vasily Ramensky; Peer Bork; Shamil Sunyaev
Journal:  Nucleic Acids Res       Date:  2002-09-01       Impact factor: 16.971

6.  Improving the prediction of disease-related variants using protein three-dimensional structure.

Authors:  Emidio Capriotti; Russ B Altman
Journal:  BMC Bioinformatics       Date:  2011-07-05       Impact factor: 3.169

Review 7.  The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Shaw; Andrew Phillips; David N Cooper
Journal:  Hum Genet       Date:  2014-01       Impact factor: 4.132

8.  VarMod: modelling the functional effects of non-synonymous variants.

Authors:  Morena Pappalardo; Mark N Wass
Journal:  Nucleic Acids Res       Date:  2014-06-06       Impact factor: 16.971

Review 9.  Single nucleotide variations: biological impact and theoretical interpretation.

Authors:  Panagiotis Katsonis; Amanda Koire; Stephen Joseph Wilson; Teng-Kuei Hsu; Rhonald C Lua; Angela Dawn Wilkins; Olivier Lichtarge
Journal:  Protein Sci       Date:  2014-10-20       Impact factor: 6.725

10.  COSMIC: exploring the world's knowledge of somatic mutations in human cancer.

Authors:  Simon A Forbes; David Beare; Prasad Gunasekaran; Kenric Leung; Nidhi Bindal; Harry Boutselakis; Minjie Ding; Sally Bamford; Charlotte Cole; Sari Ward; Chai Yin Kok; Mingming Jia; Tisham De; Jon W Teague; Michael R Stratton; Ultan McDermott; Peter J Campbell
Journal:  Nucleic Acids Res       Date:  2014-10-29       Impact factor: 16.971

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  2 in total

Review 1.  Toward Systems Pathology for PTEN Diagnostics.

Authors:  Nahal Haddadi; Glena Travis; Najah T Nassif; Ann M Simpson; Deborah J Marsh
Journal:  Cold Spring Harb Perspect Med       Date:  2020-05-01       Impact factor: 6.915

2.  Variation benchmark datasets: update, criteria, quality and applications.

Authors:  Anasua Sarkar; Yang Yang; Mauno Vihinen
Journal:  Database (Oxford)       Date:  2020-01-01       Impact factor: 3.451

  2 in total

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