circRNA basic information
circBase ID: -
Name: hsa_circ_MAN1A2
Synonym: circMAN1A2
Host Gene: MAN1A2
Genomic location(hg19): -
Genomic location(hg38): -
Subcellular localization: not tested
 
 
 
 
 
 
 
Disease basic information
MONDO ID:
0018881
MONDO name: myelodysplastic syndrome
Disease details: myelodysplastic neoplasms / MDS
Disease DO ID:
0050908
Disease MeSH ID:
-
Disease NCIt ID:
C3247
Disease ICD11 ID:
-
Disease OMIM ID:
614286
Species: Human
Species details: Homo sapiens
Tissue specimen:

bone marrow CD34+ cells; bone marrow

Cell lines:

K562

In vivo animal model:

-

circRNA-disease information
Expression pattern:
UP
Associated gene: IL32, MS4A4A, FOSL1, MAGEC1
Associated microRNA: Hsa-miR-409-3p, hsa-miR-579-5p, hsa-miR-1238-3p
Biological function: Upregulated in MDS patients with U2AF1 mutations; knockdown in U2AF1-mutated K562 cells led to significant gene expression changes, including downregulation of IL32 and upregulation of MS4A4A, FOSL1 and MAGEC1.
Molecular mechanism: Predicted miRNA interaction and downstream gene expression regulation after circRNA knockdown; the article also relates upregulation to altered circRNA biogenesis in the presence of U2AF1 mutations.
Biological pathway or process:

ceRNA regulation (other); mRNA stability (other); other pathway/process (other)

Detected method:
S
Validation methods:

RNA-seq; Clinical Sample Validation; Bioinformatics Analysis; Transfection; RT-qPCR

Clinical significance:

Potential biomarker and therapeutic target investigation in U2AF1-mutated MDS.

Description:

circMAN1A2 was one of seven circRNAs upregulated in MDS patients with U2AF1 mutations and independently confirmed in cohort 2. Functional knockdown in U2AF1-mutated K562 cells altered cancer-panel gene expression, especially IL32, MS4A4A, FOSL1 and MAGEC1, suggesting a potential role in U2AF1-mutated MDS biology.

Confidence score:

0.4997

Other information
Title:

Impact of U2AF1 mutations on circular RNA expression in myelodysplastic neoplasms.

Journal: Leukemia
Published: 2023
PubMed ID: 36922625
Study type:

combined biological and clinical study

Data availability: GSE224576; GSE89834; restricted access patient and healthy control RNA sequencing data; Supplementary Table S7
Code availability: https://github.com/omiics/PPT_finder10