circRNA basic information
circBase ID: -
Name: hsa_circ_TMEM56
Synonym: circTMEM56
Host Gene: TMEM56
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
0005045
MONDO name: hypertrophic cardiomyopathy
Disease details: hypertrophic cardiomyopathy
Disease DO ID:
11984
Disease MeSH ID:
D002312
Disease NCIt ID:
C34449
Disease ICD11 ID:
1830681485
Disease OMIM ID:
-
Species: Human
Species details: Homo sapiens
Tissue specimen:

serum

Cell lines:

-

In vivo animal model:

-

circRNA-disease information
Expression pattern:
DN
Associated gene: -
Associated microRNA: -
Biological function: Biomarker potential for HCM and indicator of disease severity in HOCM (negatively correlated with LVOT gradient and IVS thickness).
Molecular mechanism: Not specified (evaluated as circulating biomarker; mechanistic interactions not experimentally investigated).
Biological pathway or process:

not specified

Detected method:
Q
Validation methods:

RT-qPCR; Clinical Sample Validation; ROC Analysis; Bioinformatics Analysis

Clinical significance:

Circulating circTMEM56 can distinguish between healthy subjects and HCM/HNCM/HOCM patients (ROC AUC reported); additionally indicates disease severity in HOCM via negative correlation with echocardiographic parameters.

Description:

Serum circTMEM56 is significantly down-regulated in HCM patients versus controls. It demonstrates diagnostic discrimination for HCM subtypes and correlates with echocardiographic severity measures in HOCM, suggesting utility as a circulating biomarker and severity indicator.

Confidence score:

0.459

Other information
Title:

Serum circular RNAs act as blood-based biomarkers for hypertrophic obstructive cardiomyopathy.

Journal: Scientific reports
Published: 2019
PubMed ID: 31889077
Study type:

combined biological and clinical study

Data availability: All data generated or analyzed during this study are included in this published article and its Supplementary Information files.
Code availability: www.r-project.org