circRNA basic information
circBase ID: -
Name: hsa_circ_ATM
Synonym: -
Host Gene: ATM
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
 0011908
MONDO name: juvenile myelomonocytic leukemia
Disease details: Juvenile myelomonocytic leukemia
Disease DO ID:
 0050458
Disease MeSH ID:
 D054429
Disease NCIt ID:
 C9233
Disease ICD11 ID:
 1786015803
Disease OMIM ID:
 607785
Species: Human
Species details: Homo sapiens
Tissue specimen:

bone marrow; peripheral blood
Cell lines:

-
In vivo animal model:

-
circRNA-disease information
Expression pattern:
DN
Associated gene: -
Associated microRNA: -
Biological function: Down-regulated circRNA in JMML; described as abundant in healthy donor BM and generally decreased in JMML.
Molecular mechanism: not specified
Biological pathway or process:

not specified
Detected method:
Q
S
Validation methods:

RNA-seq; RT-qPCR; Sanger Sequencing; Clinical Sample Validation
Clinical significance:

-
Description:

circATM(2-4) is consistently down-regulated in JMML versus healthy donors in both RNA-seq and qRT-PCR validation cohorts. The paper does not establish a specific downstream molecular mechanism for circATM in JMML.
Confidence score:

0.4773
Other information
Title:

CircRNAs Dysregulated in Juvenile Myelomonocytic Leukemia: CircMCTP1 Stands Out.

Journal: Frontiers in cell and developmental biology
Published: 2020
PubMed ID: 33490078
Study type:

combined biological and clinical study
Data availability: GSE147523; GSE71452
Code availability: -