Research Paper Volume 15, Issue 22 pp 12982—12997

Multi-omics analysis of the oncogenic role of optic atrophy 1 in human cancer

Ziyi Wu1, *, , Nuo Xu2, *, , Guoqing Li3, , Wen Yang4, , Chen Zhang5, , Hua Zhong6, , Gen Wu6, , Fei Chen2, , Dianqing Li1, ,

  • 1 Department of Orthopedics, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, China
  • 2 Department of Spine Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China
  • 3 Xiangya School of Medicine, Central South University, Changsha, Hunan 410013, China
  • 4 The Department of Network Center, Hainan Normal University, Haikou, Hainan 571158, China
  • 5 Department of Emergency, The Fourth People’s Hospital of Zigong, Zigong, Sichuan 643000, China
  • 6 Department of Orthopedics, The Fifth Affiliated Hospital, Southern Medical University, Guangzhou, Guangdong 510900, China
* Equal contribution

Received: August 3, 2023       Accepted: October 15, 2023       Published: November 16, 2023
How to Cite

Copyright: © 2023 Wu et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Objective: To investigate the prognostic significance of optic atrophy 1 (OPA1) in pan-cancer and analyze the relationship between OPA1 and immune infiltration in cancer.

Results: OPA1 exhibited high expression levels or mutations in various types of tumor cells, and its expression levels were significantly correlated with the survival rate of tumor patients. In different tumor tissues, there was a notable positive correlation between OPA1 expression levels and the infiltration of cancer-associated fibroblasts in the immune microenvironment. Additionally, OPA1 and its related genes were found to be involved in several crucial biological processes, including protein phosphorylation, protein import into the nucleus, and protein binding.

Conclusion: OPA1 is highly expressed or mutated in numerous tumors and is strongly associated with protein phosphorylation, patient prognosis, and immune cell infiltration. OPA1 holds promise as a novel prognostic marker with potential clinical utility across various tumor types.

Methods: We examined OPA1 expression in pan-cancer at both the gene and protein levels using various databases, including Tumor Immune Estimation Resource 2.0 (TIMER 2.0), Gene Expression Profiling Interactive Analysis (GEPIA2), UALCAN, and The Human Protein Atlas (HPA). We utilized the Kaplan-Meier plotter and GEPIA datasets to analyze the relationship between OPA1 expression levels and patient prognosis. Through the cBioPortal database, we detected OPA1 mutations in tumors and examined their relationship with patient prognosis. We employed the TIMER 2.0 database to explore the correlation between OPA1 expression levels in tumor tissue and the infiltration of cancer-associated fibroblasts in the immune microenvironment. Furthermore, we conducted a gene search associated with OPA1 and performed enrichment analysis to identify the main signaling pathways and biological processes linked to them.


ACC: Adrenocortical carcinoma; BLCA: Bladder urothelial carcinoma; BRCA: Breast invasive carcinoma; CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma; CHOL: Cholangiocarcinoma; CNC: Copy number change; CPSF2: Cleavage and polyadenylation specific factor 2; DAVID: Database for Annotation, Visualization, and Integrated Discovery; DFS: Disease-free survival; DLBC: Lymphoid neoplasm diffuse large B-cell lymphoma; DSS: Disease-specific survival; ESCA: Esophageal carcinoma; FYTTD1: Forty-two-three domains containing 1; GBM: Glioblastoma multiforme; GEPIA: Gene Expression Profiling Interactive Analysis; GO: Gene ontology; GTEx: The Genotype-Tissue Expression Project; HNSC: Head and Neck squamous cell carcinoma; HPA: The Human Protein Atlas; IMM: Inner mitochondrial membrane; KEGG: Kyoto Encyclopedia of Genes and Genomes; KIRC: Kidney renal clear cell carcinoma; KIRP: Kidney renal papillary cell carcinoma; KPNA1: Karyopherin subunit alpha 1; KPNA4: Karyopherin subunit alpha 4; LIHC: Liver hepatocellular carcinoma; LUAD: Lung adenocarcinoma; LUSC: Lung squamous cell carcinoma; MESO: Mesothelioma; MFN: Mitochondrial fusion proteins; OMM: Outer mitochondrial membrane; OPA1: Optic atrophy 1; OS: Overall survival; OV: Ovarian serous cystadenocarcinoma; PAAD: Pancreatic adenocarcinoma; PAK2: P21 (RAC1) activated kinase 2; PCPG: Pheochromocytoma and Paraganglioma; PFS: Progression-free survival; READ: Rectum adenocarcinoma; STAD: Stomach adenocarcinoma; SFXN1: Sideroflexin 1; TCGA: The Cancer Genome Atlas; THCA: Thyroid carcinoma; THYM: Thymoma; TIMER: Tumor Immune Estimation Resource; UCS: Uterine carcinosarcoma; UCEC: Uterine corpus endometrial carcinoma.