circRNA basic information
circBase ID: hsa_circ_0005583
Name: hsa_circ_ATM
Synonym: -
Host Gene: ATM
Genomic location(hg19): chr11:108172374-108175579:+
Genomic location(hg38): chr11:108301647-108304852:+
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
0000499
MONDO name: non-arteritic anterior ischemic optic neuropathy
Disease details: nonarteritic anterior ischemic optic neuropathy
Disease DO ID:
0050864
Disease MeSH ID:
-
Disease NCIt ID:
-
Disease ICD11 ID:
8640162
Disease OMIM ID:
-
Species: Human
Species details: Homo sapiens
Tissue specimen:

peripheral blood

Cell lines:

-

In vivo animal model:

-

circRNA-disease information
Expression pattern:
DN
Associated gene: eFI4A3
Associated microRNA: -
Biological function: unknown
Molecular mechanism: Predicted RBP interaction (eFI4A3) potentially affecting nonsense-mediated mRNA decay and related protein expression.
Biological pathway or process:

mRNA stability (other); oxidative phosphorylation (other); neurodegeneration (other); ceRNA regulation (other)

Detected method:
Q
S
Validation methods:

RNA-seq; RT-qPCR; Clinical Sample Validation; Bioinformatics Analysis

Clinical significance:

Potential biomarker for NAION (predicted).

Description:

hsa_circ_0005583 (ATM-derived) is significantly down-regulated in peripheral blood of NAION patients and is proposed to relate to neurodegeneration/oxidative-stress-associated processes. The study predicts it may act via RBP eFI4A3 and involvement in nonsense-mediated mRNA decay, suggesting biomarker potential.

Confidence score:

0.4032

Other information
Title:

Transcriptomic Analysis of circRNAs in the Peripheral Blood of Nonarteritic Anterior Ischemic Optic Neuropathy.

Journal: BioMed research international
Published: 2020
PubMed ID: 33294447
Study type:

combined biological and clinical study

Data availability: The sequencing profile data used to support the findings of this study are included within the supplementary information file(s) uploaded to the system.
Code availability: -