circRNA basic information
circBase ID: -
Name: hsa_circ_RTN4
Synonym: circRTN4_03
Host Gene: RTN4
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
 0008056
MONDO name: myotonic dystrophy type 1
Disease details: myotonic dystrophy type 1
Disease DO ID:
 11722
Disease MeSH ID:
 -
Disease NCIt ID:
 C84679
Disease ICD11 ID:
 557405480
Disease OMIM ID:
 160900
Species: Human
Species details: Homo sapiens
Tissue specimen:

biceps brachii muscle biopsies; tibialis anterior muscle biopsies; differentiated myogenic cells
Cell lines:

-
In vivo animal model:

-
circRNA-disease information
Expression pattern:
UP
Associated gene: INSR, NFIX, CAPZB
Associated microRNA: -
Biological function: -
Molecular mechanism: -
Biological pathway or process:

not specified
Detected method:
Q
S
Validation methods:

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

Circular fraction/circular-to-linear ratio correlates with muscle strength and contributes to ROC-based discrimination of DM1 vs controls.
Description:

circRTN4_03 is significantly increased in DM1 skeletal muscle and shows an increased circular-to-linear ratio, suggesting dysregulation beyond linear RTN4 expression. It is also increased in differentiated DM1 myogenic cell cultures, and its levels/ratio correlate with splicing biomarkers and clinical muscle strength measures.
Confidence score:

0.5047
Other information
Title:

Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1.

Journal: International journal of molecular sciences
Published: 2019
PubMed ID: 31010208
Study type:

combined biological and clinical study
Data availability: GSE86356
Code availability: -