circRNA basic information
circBase ID: -
Name: hsa_circ_RASGRF2
Synonym: hsa-RASGRF2_0029
Host Gene: RASGRF2
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-RASGRF2_0029 is described as an example of an exonic-intronic circRNA associated with unannotated intronic splice sites, supporting the study’s observation that cryptic splice sites contribute to generating intron-containing circRNAs, particularly in blood, in DM1/DM2.

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: -