circRNA basic information
circBase ID: -
Name: hsa_circ_SMARCA5
Synonym: circSMARCA5
Host Gene: SMARCA5
Genomic location(hg19): chr4:144464662-144465125:+
Genomic location(hg38): chr4:143543509-143543972:+
Subcellular localization: nucleus
 
 
 
 
 
 
 
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: -
Associated microRNA: -
Biological function: Downregulated nuclear circRNA; localization enrichment in nucleus may be reduced in mutant condition.
Molecular mechanism: not specified
Biological pathway or process:

not specified
Detected method:
Q
S
Validation methods:

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

-
Description:

circSMARCA5 is down-regulated in FUS P525L mutant human motor neurons and is predominantly nuclear. The study suggests a possible (not significant) shift in localization in mutant conditions, which may relate to its downregulation, but no specific downstream axis was established.
Confidence score:

0.2263
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: -