Cited by 3,451Bioinformatics and Genomic NetworksGenomics and Phylogenetic StudiesBiomedical Text Mining and Ontologies

Gene set knowledge discovery with enrichr

Open access
Xie, Zhuorui, Bailey, Allison, Kuleshov, Maxim V., Clarke, Daniel J. B., Evangelista, John E., Jenkins, Sherry L., Lachmann, Alexander, Wojciechowicz, Megan L. +4 more·2021·Current Protocols

Abstract

Profiling samples from patients, tissues, and cells with genomics, transcriptomics, epigenomics, proteomics, and metabolomics ultimately produces lists of genes and proteins that need to be further analyzed and integrated in the context of known biology. Enrichr (Chen et al., 2013; Kuleshov et al., 2016) is a gene set search engine that enables the querying of hundreds of thousands of annotated gene sets. Enrichr uniquely integrates knowledge from many high‐profile projects to provide synthesized information about mammalian genes and gene sets. The platform provides various methods to compute gene set enrichment, and the results are visualized in several interactive ways. This protocol provides a summary of the key features of Enrichr, which include using Enrichr programmatically and embedding an Enrichr button on any website. © 2021 Wiley Periodicals LLC. Basic Protocol 1 : Analyzing lists of differentially expressed genes from transcriptomics, proteomics and phosphoproteomics, GWAS studies, or other experimental studies Basic Protocol 2 : Searching Enrichr by a single gene or key search term Basic Protocol 3 : Preparing raw or processed RNA‐seq data through BioJupies in preparation for Enrichr analysis Basic Protocol 4 : Analyzing gene sets for model organisms using modEnrichr Basic Protocol 5 : Using Enrichr in Geneshot Basic Protocol 6 : Using Enrichr in ARCHS4 Basic Protocol 7 : Using the enrichment analysis visualization Appyter to visualize Enrichr results Basic Protocol 8 : Using the Enrichr API Basic Protocol 9 : Adding an Enrichr button to a website

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Crossref · 10.1002/cpz1.90

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  • The genes most co-expressed with IGKV4-1 are associated with the microglia pathogen phagocytosis pathway (WP3937), and tend to be microglia enriched.

    “The genes that are most co‐expressed with IGKV4‐1 are associated with the microglia pathogen phagocytosis pathway (WP3937), and tend to be microglia enriched, 34”

    From A genetic and proteomic comparison of key AD biomarkers across tissues (2024) · cites this paper as [34]

    Basic Protocol 6 describes how to find co-expressed genes and upload them to Enrichr, but does not report results for IGKV4-1. Searches for IGKV4-1, WP3937, and microglia enrichment found no passage in our copy supporting the claimed pathway association or cell-type enrichment. (LLM, conf=0.73)

    Experimental — accuracy not yet measured
  • The IGKV4-1 gene on chromosome 2, proposed as the functional gene for the GFAP pQTL, is implicated in the immune system and is associated with the complement cascade and B-cell receptor signaling.

    “With respect to the novel plasma pQTL, the IGKV4‐1 gene on chromosome 2, proposed as the functional gene for the GFAP pQTL, is implicated in the immune system and is associated with the complement cascade and B‐cell receptor signaling. 34”

    From A genetic and proteomic comparison of key AD biomarkers across tissues (2024) · cites this paper as [34]

    The Basic Protocol 2 and Basic Protocol 5 passages describe how Enrichr finds gene associations, but do not report findings for IGKV4-1. Searches for IGKV4-1, GFAP pQTL, the complement cascade, and B-cell receptor signaling found no passage in our copy establishing the claimed associations. Page numbers were not available for these passages. (LLM, conf=0.76)

    Experimental — accuracy not yet measured

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Authors
Xie, Z., Bailey, A., Kuleshov, M. V., Clarke, D. J. B., Evangelista, J. E., Jenkins, S. L., Lachmann, A., Wojciechowicz, M. L., Kropiwnicki, E., Jagodnik, K. M., Jeon, M., & Ma'ayan, A.
Affiliations
  • Icahn School of Medicine at Mount Sinai (US)
  • Department of Pharmacological Sciences Mount Sinai Center for Bioinformatics Icahn School of Medicine at Mount Sinai New York New York
Venue
Current Protocols
Publisher
Wiley
Published
2021-03
Volume
1
Issue
3
Pages
e90-e90
ISSN
2691-1299 (ISSN-L)
OpenAlex
W3145969289
Cited by
3,451
References
4
Citations by year
2026: 718 · 2025: 871 · 2024: 726 · 2023: 601 · 2022: 433 · 2021: 100
FWCI
152.39
Type
journal article
Language
en
Open access
Locations
  • Current Protocols (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Institutes of Health (U24CA224260, U54HL127624)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biomedical Text Mining and Ontologies
Keywords
gene set enrichment analysis, differentially expressed genes, transcriptomics, proteomics, phosphoproteomics, genome-wide association study, model organisms, interactive visualization
MeSH terms
RNA-Seq, Animals, Humans, Software, Computational Biology, Genomics, Knowledge Discovery

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