circRNA basic information
circBase ID: -
Name: hsa_circ_USP25
Synonym: hsa_circRNA_103112
Host Gene: USP25
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
0008608
MONDO name: Down syndrome
Disease details: Down's syndrome
Disease DO ID:
14250
Disease MeSH ID:
D004314
Disease NCIt ID:
C2993
Disease ICD11 ID:
1624623908
Disease OMIM ID:
190685
Species: Human
Species details: Homo sapiens
Tissue specimen:

umbilical cord blood; peripheral blood

Cell lines:

-

In vivo animal model:

-

circRNA-disease information
Expression pattern:
UP
Associated gene: USP25
Associated microRNA: hsa-miR-20b-3p, hsa-miR-93-3p, hsa-miR-370-3p, hsa-miR-520d-3p, hsa-miR-651-3p
Biological function: may contribute to DS pathogenesis and serve as a non-invasive prenatal biomarker
Molecular mechanism: predicted miRNA sponge (MREs) and circRNA-miRNA-mRNA interaction network affecting diploid gene expression balance; linked to USP25 dosage imbalance
Biological pathway or process:

ceRNA regulation (other)

Detected method:
Q
M
Validation methods:

Microarray; RT-qPCR; Clinical Sample Validation; Bioinformatics Analysis

Clinical significance:

hsa_circRNA_103112 in peripheral blood of a pregnant woman may serve as potential biomarker of fetal DS during non-invasive prenatal screening

Description:

hsa_circRNA_103112 is upregulated in DS in both umbilical cord blood and peripheral blood. It is predicted to act as a miRNA sponge (hsa-miR-20b-3p/93-3p/370-3p/520d-3p/651-3p) within a circRNA-miRNA-mRNA interaction network and is linked to the host gene USP25, suggesting involvement in DS pathogenesis and potential use as a non-invasive prenatal blood biomarker.

Confidence score:

0.4032

Other information
Title:

Differential expression profile study and gene function analysis of maternal foetal-derived circRNA for screening for Down's syndrome.

Journal: Experimental and therapeutic medicine
Published: 2020
PubMed ID: 32010263
Study type:

combined biological and clinical study

Data availability: available from the corresponding author on reasonable request
Code availability: -