circRNA basic information
circBase ID: -
Name: hsa_circ_HIPK3
Synonym: circHIPK3
Host Gene: HIPK3
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; quadriceps muscle biopsies; PBMCs; plasma
Cell lines:

-
In vivo animal model:

-
circRNA-disease information
Expression pattern:
UP
Associated gene: INSR, NFIX
Associated microRNA: miR-29b, miR-193a, miR-30a
Biological function: -
Molecular mechanism: ceRNA mechanism (miRNA sponge)
Biological pathway or process:

ceRNA regulation (other)
Detected method:
Q
S
Validation methods:

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

Increased circular fraction/circular-to-linear ratio correlates with muscle strength and helps discriminate DM1 patients from controls by ROC analysis.
Description:

circHIPK3 is increased in DM1 skeletal muscle, with an increased circular-to-linear ratio, and its circular fraction correlates with muscle strength and disease severity/splicing biomarkers. The paper also notes known miRNA-sponge activity of circHIPK3 (miR-29b/miR-193a/miR-30a), suggesting a potential ceRNA-related role, though not functionally tested in DM1 here.
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: -