circRNA basic information
circBase ID: hsa_circ_0001296
Name: hsa_circ_SMARCC1
Synonym: hsa_the circ_0001296
Host Gene: SMARCC1
Genomic location(hg19): chr3:47719687-47727660:-
Genomic location(hg38): chr3:47678197-47686170:-
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
 0006955
MONDO name: rheumatic heart disease
Disease details: rheumatic heart disease / RHD
Disease DO ID:
 0050827
Disease MeSH ID:
 D012214
Disease NCIt ID:
 C34882
Disease ICD11 ID:
 291726710
Disease OMIM ID:
 -
Species: Human
Species details: Homo sapiens
Tissue specimen:

plasma
Cell lines:

-
In vivo animal model:

-
circRNA-disease information
Expression pattern:
UP
Associated gene: SNRPD1, SF3B3, SNW1, SNIP1, PLRG1, SF3B4, CT47A10, CT47A5, CT47A3, CT47A8
Associated microRNA: hsa-miR-510-5p, hsa-miR-3925-3p, hsa-miR-6773-3p, hsa-miR-4326, hsa-miR-509-3p, hsa-miR-3192-3p, hsa-miR-4431, hsa-miR-4714-5p, hsa-miR-8070
Biological function: Potential diagnostic biomarker for RHD; may influence disease progression through modulation of a predicted circRNA-miRNA-mRNA network.
Molecular mechanism: Predicted competing endogenous RNA (ceRNA) mechanism via circRNA-miRNA-mRNA/hub gene regulatory network.
Biological pathway or process:

autophagy (other); MAPK (other); TGF-beta/SMAD (other); Wnt/beta-catenin (other); ceRNA regulation (other)
Detected method:
Q
M
Validation methods:

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

ROC analysis showed hsa_circ_0001296 had an AUC of 0.896 (95% CI: 0.83-0.96; sensitivity: 69.6%; specificity: 95.7%) for predicting RHD.
Description:

hsa_circ_0001296 is up-regulated in RHD patient plasma and shows strong diagnostic performance by ROC analysis. Bioinformatic analyses predict a ceRNA network involving multiple miRNAs and hub genes, with enrichment in autophagy, MAPK and TGF-beta/SMAD-related functions, suggesting potential roles in RHD pathogenesis that require further experimental validation.
Confidence score:

0.5047
Other information
Title:

Expression profiles and bioinformatic analysis of circular RNA in rheumatic heart disease: potential hsa_circ_0001490 and hsa_circ_0001296 as a diagnostic biomarker.

Journal: Frontiers in cardiovascular medicine
Published: 2025
PubMed ID: 40822008
Study type:

combined biological and clinical study
Data availability: GSE168932
Code availability: -