circRNA basic information
circBase ID: -
Name: hsa_circ_SLC8A1
Synonym: circSLC8A1
Host Gene: SLC8A1
Genomic location(hg19): chr2:40655613-40657444:-
Genomic location(hg38): chr2:40428473-40430304:-
Subcellular localization: cytoplasm
 
 
 
 
 
 
 
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:

-
Cell lines:

iPSC-NIL
In vivo animal model:

-
circRNA-disease information
Expression pattern:
DN
Associated gene: ADAM12, HLTF, SNX18, DPYSL3, EXOC7, FUBP1, NEDD4L
Associated microRNA: miR-335-3p, miR-27a-3p, miR-27b-3p, miR-30d-3p
Biological function: Potential miRNA sponge affecting ALS-relevant target genes and processes.
Molecular mechanism: Predicted ceRNA (miRNA sponge) mechanism in a circRNA-miRNA-mRNA network.
Biological pathway or process:

ceRNA regulation (other)
Detected method:
Q
S
Validation methods:

RNA-seq; RT-qPCR; Nuclear-Cytoplasmic Fractionation; Bioinformatics Analysis
Clinical significance:

-
Description:

circSLC8A1 is down-regulated in FUS P525L mutant human motor neurons (with concordant downregulation of its linear counterpart) and is predicted to function as a miRNA sponge. It may bind miR-335-3p, miR-27a/b-3p and miR-30d-3p, potentially affecting ALS-relevant targets involved in neuroprotection, DNA repair, trafficking/axon guidance and synaptic transmission.
Confidence score:

0.2799
Other information
Title:

FUS Alters circRNA Metabolism in Human Motor Neurons Carrying the ALS-Linked P525L Mutation.

Journal: International journal of molecular sciences
Published: 2023
PubMed ID: 36834591
Study type:

combined biological and bioinformatics study
Data availability: GSE94888; GSE203173; phs000747; GSE118347; PXD019596
Code availability: -