circRNA basic information
circBase ID: -
Name: hsa_circ_SAMD8
Synonym: hsa_circRNA_100632
Host Gene: SAMD8
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
0005147
MONDO name: type 1 diabetes mellitus
Disease details: type 1 diabetes mellitus / T1DM
Disease DO ID:
9744
Disease MeSH ID:
D003922
Disease NCIt ID:
C2986
Disease ICD11 ID:
1651053999
Disease OMIM ID:
222100
Species: Human
Species details: Homo sapiens
Tissue specimen:

peripheral blood mononuclear cells (PBMCs)

Cell lines:

-

In vivo animal model:

-

circRNA-disease information
Expression pattern:
UP
Associated gene: THBS1, SLC40A1, ALDH1A1, NFAT5
Associated microRNA: hsa-miR-1-3p, hsa-miR-27a-3p, hsa-miR-221-3p, hsa-miR-222-3p, hsa-miR-503-5p
Biological function: May promote progression of T1D (and potentially FT1D) through induction of beta-cell failure; implicated in immune response regulation.
Molecular mechanism: Predicted ceRNA mechanism: hsa_circRNA_100632 may sponge diabetes-associated miRNAs (e.g., hsa-miR-221-3p, hsa-miR-222-3p, hsa-miR-27a-3p) to modulate target genes (e.g., THBS1, SLC40A1, ALDH1A1, NFAT5).
Biological pathway or process:

ceRNA regulation (other); immune regulation (other)

Detected method:
Q
M
Validation methods:

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

Clinical significance:

Diagnostic marker for FT1D; distinguishes FT1D from controls and from T1D with reported AUCs.

Description:

hsa_circRNA_100632 (derived from SAMD8) is up-regulated in PBMCs of FT1D (and also T1D) patients and shows diagnostic performance for distinguishing FT1D from controls and from T1D. Mechanistically, it is predicted to act via a circRNA-miRNA-mRNA ceRNA network (e.g., sponging miR-221-3p/miR-222-3p or miR-27a-3p to affect targets such as THBS1/SLC40A1/ALDH1A1 or NFAT5), potentially linking to immune regulation in FT1D.

Confidence score:

0.5047

Other information
Title:

Identification of hsa_circRNA_100632 as a novel molecular biomarker for fulminant type 1 diabetes.

Journal: Frontiers in immunology
Published: 2023
PubMed ID: 36911697
Study type:

combined biological and clinical study

Data availability: OMIX002351
Code availability: -