# ShinyDegSEM: an interactive application for pathway perturbation analysis in gene expression studies via structural equation modeling

**Authors:** Zhehan Jiang, Jihong Zhang, Yuanfang Liu, Jinying Ouyang, Linlin Sun, Hao Guo

PMC · DOI: 10.7717/peerj.20033 · PeerJ · 2025-10-10

## TL;DR

ShinyDegSEM is an interactive tool that uses structural equation modeling to analyze gene expression data and identify perturbed biological pathways.

## Contribution

The novelty lies in integrating SEM with pathway analysis in an accessible R Shiny application for gene expression studies.

## Key findings

- ShinyDegSEM streamlines the identification of differentially expressed genes and perturbed pathways.
- The tool enables model refinement and comparison between experimental and control groups using SEM.
- It provides intuitive visualizations of deregulated genes and altered gene relationships.

## Abstract

Researchers in biology and bioinformatics are increasingly interested in unraveling the complex mechanisms underlying phenotypic variations. A key challenge lies in identifying perturbed biological pathways and understanding how these perturbations propagate through intricate gene regulatory networks.

To address this challenge, we developed ShinyDegSEM, an interactive R Shiny application that leverages structural equation modeling (SEM) to facilitate pathway perturbation analysis in gene expression studies. ShinyDegSEM streamlines identifying differentially expressed genes (DEGs), generating pathway models based on biological knowledge, and evaluating these models to uncover perturbed pathway modules. This article is a tutorial to guide users through the analysis workflow, providing detailed explanations and examples. This feature ensures that even novice researchers can quickly grasp the concepts and apply the tool to their datasets.

The application integrates multiple steps, including DEG detection using significance analysis of microarray, perturbed pathway analysis with signaling pathway impact analysis, and SEM-based model refinement and comparison between experimental and control groups. The interactive interface of ShinyDegSEM allows researchers to easily upload their gene expression data, select appropriate criteria for DEG detection and pathway analysis, and visualize the results in intuitive graphs and tables. The tool provides insights into deregulated genes and modified gene-gene relationships within perturbed pathways.

## Full-text entities

- **Genes:** DLG4 (discs large MAGUK scaffold protein 4) [NCBI Gene 1742] {aka MRD62, PSD95, SAP-90, SAP90}, ARPC4 (actin related protein 2/3 complex subunit 4) [NCBI Gene 10093] {aka ARC20, DEVLO, P20-ARC}, GRN (granulin precursor) [NCBI Gene 2896] {aka CLN11, FTD2, GEP, GP88, PCDGF, PEPI}, PLA2G4A (phospholipase A2 group IVA) [NCBI Gene 5321] {aka GURDP, PLA2G4, cPLA2, cPLA2-alpha}, CRKL (CRK like proto-oncogene, adaptor protein) [NCBI Gene 1399], ARF6 (ARF GTPase 6) [NCBI Gene 382], PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma) [NCBI Gene 23396] {aka LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma}, SPI1 (Spi-1 proto-oncogene) [NCBI Gene 6688] {aka AGM10, OF, PU.1, SFPI1, SPI-1, SPI-A}, SHANK2 (SH3 and multiple ankyrin repeat domains 2) [NCBI Gene 22941] {aka AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3}
- **Diseases:** MS (MESH:D009103), Chagas Disease (MESH:D014355), FTLD-U (MESH:D057180), autoimmune dysregulation (MESH:C580192), phagocytic dysfunction (MESH:D010585), SRMR (MESH:D018365), LRTs (MESH:D013736), SEM (MESH:D004195), Lobar Degeneration (MESH:D057174), cardiovascular disease (MESH:D002318), SML (MESH:D058926), SCZ (MESH:D012559), inflammation (MESH:D007249)
- **Chemicals:** PIR (-)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

9 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12517285/full.md

## References

67 references — full list in the complete paper: https://tomesphere.com/paper/PMC12517285/full.md

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Source: https://tomesphere.com/paper/PMC12517285