circRNA basic information
circBase ID: hsa_circ_0006853
Name: hsa_circ_RPPH1
Synonym: -
Host Gene: RPPH1
Genomic location(hg19): chr14:20811282-20811360:-
Genomic location(hg38): chr14:20343123-20343201:-
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
 0010526
MONDO name: Fabry disease
Disease details: Fabry disease / FD
Disease DO ID:
 14499
Disease MeSH ID:
 D000795
Disease NCIt ID:
 C84701
Disease ICD11 ID:
 66996647
Disease OMIM ID:
 301500
Species: Human
Species details: Homo sapiens
Tissue specimen:

blood
Cell lines:

-
In vivo animal model:

-
circRNA-disease information
Expression pattern:
UP
Associated gene: -
Associated microRNA: -
Biological function: blood-based biomarker distinguishing patients with Fabry disease from healthy controls and patients with acute kidney injury; associated with Classic phenotype, severe mutations, early symptoms, therapy, nephropathy, cardiomyopathy and cerebrovascular disease
Molecular mechanism: not functionally validated; bioinformatic prediction of potential RBP and miRNA binding sites
Biological pathway or process:

not specified
Detected method:
Q
Validation methods:

Microarray; RT-qPCR; Clinical Sample Validation; ROC Analysis; Bioinformatics Analysis
Clinical significance:

AUC=0.73; distinguished patients with Fabry disease from healthy controls and patients with acute kidney injury; levels related to disease severity, genotype, specific therapy, early symptoms and organ complications
Description:

hsa_circ_0006853 is a blood-based Fabry disease biomarker validated by qPCR. It is elevated in FD, distinguishes FD from healthy and AKI controls, and is associated with Classic phenotype, severe genotype, therapy status, early symptoms and organ involvement.
Confidence score:

0.5047
Other information
Title:

Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes.

Journal: Journal of medical genetics
Published: 2022
PubMed ID: 33547137
Study type:

combined biological and clinical study
Data availability: All data relevant to the study are included in the article or uploaded as online supplemental information.
Code availability: -