circRNA basic information
circBase ID: -
Name: hsa_circ_CPNE1
Synonym: hsa_CPNE1_0001
Host Gene: CPNE1
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
 0016107
MONDO name: myotonic dystrophy
Disease details: myotonic dystrophy
Disease DO ID:
 450
Disease MeSH ID:
 D009223
Disease NCIt ID:
 C84914
Disease ICD11 ID:
 192087511
Disease OMIM ID:
 -
Species: Human
Species details: Homo sapiens
Tissue specimen:

frontal cortex; whole blood
Cell lines:

B-lymphocytes
In vivo animal model:

-
circRNA-disease information
Expression pattern:
UN
Associated gene: -
Associated microRNA: -
Biological function: -
Molecular mechanism: -
Biological pathway or process:

not specified
Detected method:
S
Validation methods:

Back-Splice Junction PCR / divergent primers PCR; Sanger Sequencing; RNA-seq
Clinical significance:

-
Description:

hsa_CPNE1_0001 is reported as an example circRNA whose back-splice junction uses cryptic splice sites located in the last coding exons, illustrating non-canonical splice-site usage contributing to circRNA biogenesis in DM1/DM2 tissues.
Confidence score:

0.385
Other information
Title:

Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2.

Journal: Human genetics
Published: 2025
PubMed ID: 39903274
Study type:

bioinformatics study
Data availability: GSE157428; GSE138691; GSE86356
Code availability: -