Entry Detail



General Information

Database ID:exR0190339
RNA Name:hsa-miR-422a
RNA Type:miRNA
Chromosome:chr15
Starnd:-
Coordinate:
Start Site(bp):63870989End Site(bp):63871010
External Links:hsa-miR-422a



Disease Information

Disease Name:Pompe Disease
Disease Category:Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH ID:D006009
Type:Diseases Category/Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Alias:Glycogen Storage Disease Type II//Acid Maltase Deficiency Disease//Deficiency Disease, Acid Maltase//Deficiency Disease, Lysosomal alpha-1,4-Glucosidase//GAA Deficiency//Deficiencies, GAA//Deficiency, GAA//GAA Deficiencies//Generalized Glycogenosis//Generalized Glycogenoses//Glycogenoses, Generalized//Glycogenosis, Generalized//Glycogen Storage Disease II//Glycogen Storage Disease Type 2//Glycogenosis 2//Glycogenosis Type II//Type II, Glycogenosis//Type IIs, Glycogenosis//GSD II//Lysosomal alpha-1,4-Glucosidase Deficiency Disease//Lysosomal alpha 1,4 Glucosidase Deficiency Disease//Pompe Disease//Disease, Pompe//Pompe's Disease//Disease, Pompe's//Pompes Disease//Deficiency of Alpha-Glucosidase//Alpha-Glucosidase Deficiencies//Alpha-Glucosidase Deficiency//Deficiency of Alpha Glucosidase//GSD2//GSD2s//Acid Alpha-Glucosidase Deficiency//Acid Alpha Glucosidase Deficiency//Acid Alpha-Glucosidase Deficiencies//Alpha-Glucosidase Deficiencies, Acid//Alpha-Glucosidase Deficiency, Acid//Deficiencies, Acid Alpha-Glucosidase//Deficiency, Acid Alpha-Glucosidase//Glycogen Storage Disease Type II, Juvenile//Juvenile Glycogen Storage Disease Type II//Glycogen Storage Disease Type II, Infantile//Infantile Glycogen Storage Disease Type II//Acid Maltase Deficiency//Acid Maltase Deficiencies//Deficiencies, Acid Maltase//Deficiency, Acid Maltase//Maltase Deficiencies, Acid//Alpha-1,4-Glucosidase Deficiency//Alpha 1,4 Glucosidase Deficiency//Alpha-1,4-Glucosidase Deficiencies//Deficiencies, Alpha-1,4-Glucosidase//Deficiency, Alpha-1,4-Glucosidase//Adult Glycogen Storage Disease Type II//Glycogen Storage Disease Type II, Adult



Expression Detail

GEO ID:GSE113829
Description:MICRO-RNA AS BIOMARKERS IN POMPE DISEASE
Experimental Design:Disease vs Control
Case Disease Type:Pompe disease
Case Disease SubType:NA
Case Sample:Pompe Disease
Control Sample:Control
Number of Case:6
Number of Control:6
Number of Samples:12





Regulatory Relationship

mRNA targets:
Gene SymbolChromosomeStart Site(bp)End Site(bp)Strand
ARHGAP11A
chr15
32615144
32639941
+
CPEB3
chr10
92046692
92291078
-
FOSL1
chr11
65892049
65900573
-
ISCA1
chr9
86264546
86283102
-
KDM5A
chr12
280057
389320
-
MAP3K14
chr17
45263119
45317029
-
ORAI1
chr12
121626550
121642677
+
PIK3R3
chr1
46040140
46133036
-
PLEKHO2
chr15
64841883
64868002
+
SEH1L
chr18
12947133
12987536
+
SOX4
chr6
21593751
21598619
+
TMEM245
chr9
109015135
109119947
-
TOB2
chr22
41433494
41446801
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001459
chr4
178274461
178274882
+
hsa_circ_0001460
chr4
178274461
178281831
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC023509.1
chr12
53441741
53467528
+
AL049795.2
chr1
32170733
32176568
+
KCNQ1OT1
chr11
2608328
2699994
-
LINC00641
chr14
21200079
21206900
-
MALAT1
chr11
65497688
65506516
+
NORAD
chr20
36045618
36051018
-
OIP5-AS1
chr15
41283990
41309737
+
Display:



Experiment Detail

GEO ID:GSE113829
Sample Source:Blood
Source Fraction:Plasma
Platform:GPL15433
Method:NGS
Num of detected RNA Type:1
Num of detected RNAs of this Type:1111
Sample treatment protocol:For plasma samples EDTA was used as anticoagulant.
RNA Extract protocol:miRNA enriched-total RNA was extracted using miRNeasy kit (QIAGEN) for tissues or using miRNeasy serum/plasma kit (qiagen) for plasma.
RNA library preparation protocol:Small RNA libraries were constructed using a Truseq small RNA sample preparation kit (Illumina).



Reference

PMID:29997386
Title:microRNAs as biomarkers in Pompe disease.
Author:Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O, Coletta M, Karali M, Acampora E, Damiano C, Minopoli N, Fecarotta S, Della Casa R, Mongini T, Vercelli L, Santoro L, Ruggiero L, Deodato F, Taurisano R, Bembi B, Dardis A, Banfi S, Pijnappel WWP, van der Ploeg AT, Parenti G.
Journal:Genet Med. 2019 Mar;21(3):591-600.
Description:We studied microRNAs as potential biomarkers for Pompe disease