circRNA basic information
circBase ID: -
Name: hsa_circ_CDC42BPA
Synonym: circCDC42BPA
Host Gene: CDC42BPA
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
 0007064
MONDO name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Disease details: adenosine deaminase-deficient, severe combined immunodeficiency
Disease DO ID:
 5810
Disease MeSH ID:
 C531816
Disease NCIt ID:
 C3962
Disease ICD11 ID:
 -
Disease OMIM ID:
 102700
Species: Human
Species details: Homo sapiens
Tissue specimen:

lymphoblastoid cells (LCLs)
Cell lines:

lymphoblastoid cells (LCLs)
In vivo animal model:

-
circRNA-disease information
Expression pattern:
UP
Associated gene: -
Associated microRNA: -
Biological function: unknown
Molecular mechanism: Differentially expressed circRNA in a disease-relevant host gene; no direct mechanism tested.
Biological pathway or process:

not specified
Detected method:
Q
S
Validation methods:

RNA-seq; RNase R Treatment; RT-qPCR; Sanger Sequencing; Clinical Sample Validation; Bioinformatics Analysis
Clinical significance:

Higher circRNA expression in ADA-SCID and WAS patient samples compared to controls.
Description:

circCDC42BPA is up-regulated in ADA-SCID and WAS patient lymphoblastoid cells compared with controls and was validated by RNase R-based RT-qPCR (with junction confirmation by sequencing). The study links this increased circRNA level to a host gene relevant to WAS/ADA-SCID pathogenesis but does not establish a specific downstream regulatory axis.
Confidence score:

0.585
Other information
Title:

A map of human circular RNAs in clinically relevant tissues.

Journal: Journal of molecular medicine (Berlin, Germany)
Published: 2017
PubMed ID: 28842720
Study type:

combined biological and clinical study
Data availability: GSE100242
Code availability: -