ArticleCell systems2015
Pan-Cancer Analysis of Mutation Hotspots in Protein Domains.
Article in Cell systems, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
What it found
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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.
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.
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Who cites it
76 citing papers in PubMed, 124 citations in OpenAlex.
- Article
- The structural context of mutations in proteins predicts their effect on antibiotic resistance.eLife · 2026Article
- Convergent Evolution in Tumor Genomes Targets Functional Domains.bioRxiv : the preprint server for biology · 2026Article
- Whole exome sequencing identifies somatically mutated genes in bladder cancer: A pilot study from Bangladesh.Biochemistry and biophysics reports · 2026Article
- Integrating evidence from protein domains to identify cancer driver mutations.Protein science : a publication of the Protein Society · 2026Article
- TP53 mutations as drivers of chordoma progression and hallmarks of aggressive chordoma.Acta neuropathologica communications · 2025Article
- Amplifying mutational profiling of extracellular vesicle mRNA with SCOPE.Nature biotechnology · 2025Article
- MutationAssessor in cBioPortal.bioRxiv : the preprint server for biology · 2025Article
- Single-Sample Melt-Based Screening for Rifampicin Susceptibility in the Emerging Mutation Hotspot atACS infectious diseases · 2025Article
- Decoding the functional impact of the cancer genome through protein-protein interactions.Nature reviews. Cancer · 2025Review
- Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.iScience · 2024Article
- Dysregulated gene subnetworks in breast invasive carcinoma reveal novel tumor suppressor genes.Scientific reports · 2024Article
- Genetic variation of TLR3 gene is associated with the outcome of hepatitis b infection in mauritanian patients: case control study.BMC infectious diseases · 2024Article
- Machine learning and multi-omics data reveal driver gene-based molecular subtypes in hepatocellular carcinoma for precision treatment.PLoS computational biology · 2024Article
- A unified analysis of evolutionary and population constraint in protein domains highlights structural features and pathogenic sites.Communications biology · 2024Article
- The Impact of Mutational Hotspots on Cancer Survival.Cancers · 2024Article
- Singleton mutations in large-scale cancer genome studies: uncovering the tail of cancer genome.NAR cancer · 2024Article
- Integrating Clinical Cancer and PTM Proteomics Data Identifies a Mechanism of ACK1 Kinase Activation.Molecular cancer research : MCR · 2024Article
- Unraveling Extremely DamagingJournal of personalized medicine · 2023Article
- Pathogenic mutation hotspots in protein kinase domain structure.Protein science : a publication of the Protein Society · 2023Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
In cancer genomics, recurrence of mutations in independent tumor samples is a strong indicator of functional impact. However, rare functional mutations can escape detection by recurrence analysis owing to lack of statistical power. We enhance statistical power by extending the notion of recurrence of mutations from single genes to gene families that share homologous protein domains. Domain mutation analysis also sharpens the functional interpretation of the impact of mutations, as domains more succinctly embody function than entire genes. By mapping mutations in 22 different tumor types to equivalent positions in multiple sequence alignments of domains, we confirm well-known functional mutation hotspots, identify uncharacterized rare variants in one gene that are equivalent to well-characterized mutations in another gene, detect previously unknown mutation hotspots, and provide hypotheses about molecular mechanisms and downstream effects of domain mutations. With the rapid expansion of cancer genomics projects, protein domain hotspot analysis will likely provide many more leads linking mutations in proteins to the cancer phenotype.
Identifiers
What OpenQuestion holds
Registered trials
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.