Evidence map›Paper›PMID 29126202›Full record

ArticleNucleic acids research2018

ActiveDriverDB: human disease mutations and genome variation in post-translational modification sites of proteins.

Michal Krassowski, Marta Paczkowska, Kim Cullion, Tina Huang, Irakli Dzneladze, B F Francis Ouellette, Joseph T Yamada, Amelie Fradet-Turcotte, Jüri Reimand

Abstract read
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Article in Nucleic acids research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 2 pooled it
–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

56 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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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

9 authors.

Michal KrassowskiComputational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
Marta PaczkowskaComputational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
Kim CullionComputational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
Tina HuangComputational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
Irakli DzneladzeComputational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
B F Francis OuelletteComputational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
Joseph T YamadaComputational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
Amelie Fradet-TurcotteDepartment of Molecular Biology, Medical Biochemistry and Pathology, Université Laval, Québec, Québec, Canada.
Jüri ReimandComputational Biology Program, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Interpretation of genetic variation is needed for deciphering genotype-phenotype associations, mechanisms of inherited disease, and cancer driver mutations. Millions of single nucleotide variants (SNVs) in human genomes are known and thousands are associated with disease. An estimated 21% of disease-associated amino acid substitutions corresponding to missense SNVs are located in protein sites of post-translational modifications (PTMs), chemical modifications of amino acids that extend protein function. ActiveDriverDB is a comprehensive human proteo-genomics database that annotates disease mutations and population variants through the lens of PTMs. We integrated >385,000 published PTM sites with ∼3.6 million substitutions from The Cancer Genome Atlas (TCGA), the ClinVar database of disease genes, and human genome sequencing projects. The database includes site-specific interaction networks of proteins, upstream enzymes such as kinases, and drugs targeting these enzymes. We also predicted network-rewiring impact of mutations by analyzing gains and losses of kinase-bound sequence motifs. ActiveDriverDB provides detailed visualization, filtering, browsing and searching options for studying PTM-associated mutations. Users can upload mutation datasets interactively and use our application programming interface in pipelines. Integrative analysis of mutations and PTMs may help decipher molecular mechanisms of phenotypes and disease, as exemplified by case studies of TP53, BRCA2 and VHL. The open-source database is available at https://www.ActiveDriverDB.org.

Indexed as

Databases, GeneticDatabases, ProteinMutationAmino Acid SubstitutionData MiningDatasets as TopicDiseaseGenetic Association StudiesGenetic VariationGenome, HumanGenomicsHumansMolecular Sequence AnnotationPolymorphism, Single NucleotideProtein KinasesProtein Processing, Post-TranslationalProtein Kinases

Identifiers

PMID29126202
PMCPMC5753267

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LicenceCC BY-NC
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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.