circRNA basic information
circBase ID: hsa_circ_0000247
Name: hsa_circ_MCU
Synonym: -
Host Gene: MCU
Genomic location(hg19): chr10:74474868-74475660:+
Genomic location(hg38): chr10:72715110-72715902:+
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
 0004976
MONDO name: amyotrophic lateral sclerosis
Disease details: amyotrophic lateral sclerosis / ALS
Disease DO ID:
 332
Disease MeSH ID:
 D000690
Disease NCIt ID:
 C34373
Disease ICD11 ID:
 1982355687
Disease OMIM ID:
 -
Species: Human
Species details: Homo sapiens
Tissue specimen:

skeletal muscle biopsies; spinal cord
Cell lines:

iPSC-derived motor neurons
In vivo animal model:

genetically engineered animal model
circRNA-disease information
Expression pattern:
DN
Associated gene: -
Associated microRNA: -
Biological function: unknown
Molecular mechanism: unknown
Biological pathway or process:

not specified
Detected method:
Q
S
Validation methods:

RNA-seq; RNase R Treatment; RT-qPCR; divergent primers PCR; Clinical Sample Validation; Bioinformatics Analysis
Clinical significance:

reduced in ALS muscle and spinal cord; increased in ALS frontal cortex
Description:

hsa_circ_0000247 is selectively downregulated in ALS skeletal muscle while MCU mRNA is not changed; it is decreased in ALS spinal cord and increased in ALS frontal cortex (late stage). No mechanism was described.
Confidence score:

0.585
Other information
Title:

Transcriptomic analysis of human ALS skeletal muscle reveals a disease-specific pattern of dysregulated circRNAs.

Journal: Aging
Published: 2022
PubMed ID: 36585921
Study type:

combined biological and clinical study
Data availability: GSE215424
Code availability: -