circRNA basic information
circBase ID: hsa_circ_0004846
Name: hsa_circ_SAMD4A
Synonym: circSamd4circSAMD4A
Host Gene: SAMD4A
Genomic location(hg19): chr14:55168779-55169298:+
Genomic location(hg38): chr14:54702061-54702580:+
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:

spinal cord; quadriceps; cortex; brainstem
Cell lines:

-
In vivo animal model:

genetically engineered animal model
circRNA-disease information
Expression pattern:
DN
Associated gene: Samd4/SAMD4A
Associated microRNA: -
Biological function: -
Molecular mechanism: circRNA/host-gene expression correlation not significant
Biological pathway or process:

myogenesis (other)
Detected method:
Q
Validation methods:

RT-qPCR; Clinical Sample Validation
Clinical significance:

-
Description:

circSAMD4A is significantly down-regulated in sALS brain; in the mouse model it is part of the circRNA set showing tissue-dependent deregulation, though circSamd4 did not significantly correlate with host gene expression.
Confidence score:

0.2995
Other information
Title:

Circular RNA expression in ALS is progressively deregulated and tissue-dependent.

Journal: BMC genomics
Published: 2025
PubMed ID: 40596818
Study type:

combined biological and clinical study
Data availability: GSE289637
Code availability: -