circRNA basic information
circBase ID: hsa_circ_0006404
Name: hsa_circ_FOXO3
Synonym: CircFOXO3
Host Gene: FOXO3
Genomic location(hg19): chr6:108984657-108986092:+
Genomic location(hg38): chr6:108663454-108664889:+
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
 0005010
MONDO name: coronary artery disorder
Disease details: coronary artery disease
Disease DO ID:
 3393
Disease MeSH ID:
 D003324
Disease NCIt ID:
 C26732
Disease ICD11 ID:
 1059873720
Disease OMIM ID:
 -
Species: Human
Species details: Homo sapiens
Tissue specimen:

peripheral blood mononuclear cells (PBMCs)
Cell lines:

-
In vivo animal model:

-
circRNA-disease information
Expression pattern:
DN
Associated gene: p21, CDK2, ID-1, E2F1, FAK, HIF1a
Associated microRNA: miR-149, miR-22, miR-136
Biological function: Associated with CAD susceptibility via SNP-dependent reduction of circFOXO3 expression.
Molecular mechanism: A flanking-intron SNP (rs12196996) is associated with reduced circFOXO3 expression (suggesting altered back-splicing/formation) without affecting linear FOXO3 mRNA expression.
Biological pathway or process:

not specified
Detected method:
Q
Validation methods:

divergent primers PCR; Sanger Sequencing; RT-qPCR; Clinical Sample Validation; Cohort Study; Bioinformatics Analysis
Clinical significance:

rs12196996 at circFOXO3 flanking intron is associated with CAD risk and links to decreased circFOXO3 expression; suggested as a biomarker for CAD risk assessment.
Description:

This study links the flanking-intron SNP rs12196996 to reduced circFOXO3 expression in PBMCs and increased susceptibility to coronary artery disease in a Chinese Han case-control cohort. The variant appears to affect circFOXO3 formation/expression without altering linear FOXO3 levels, suggesting a circRNA-specific regulatory effect relevant to CAD risk.
Confidence score:

0.6238
Other information
Title:

CircFOXO3 rs12196996, a polymorphism at the gene flanking intron, is associated with circFOXO3 levels and the risk of coronary artery disease.

Journal: Aging
Published: 2020
PubMed ID: 32614786
Study type:

clinical study
Data availability: -
Code availability: -