Entry Detail



General Information

Database ID:exR0190147
RNA Name:hsa-miR-21-5p
RNA Type:miRNA
Chromosome:chr17
Starnd:+
Coordinate:
Start Site(bp):59841273End Site(bp):59841294
External Links:hsa-miR-21-5p



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
KAZN
chr1
13892792
15118043
+
UBE2T
chr1
202331657
202341980
-
CLEC2D
chr12
9664969
9699553
+
EIF4A2
chr3
186783205
186789897
+
MGST1
chr12
16347142
16609259
+
POLE3
chr9
113407235
113410675
-
SOWAHC
chr2
109614364
109618990
+
OSER1
chr20
44195939
44210771
-
EXOC4
chr7
133253073
134066589
+
EDARADD
chr1
236348257
236502915
+
HNRNPA0
chr5
137745651
137754363
-
GPSM3
chr6
32190766
32195523
-
CTH
chr1
70411218
70439851
+
CITED2
chr6
139371807
139374648
-
MTREX
chr5
55307989
55425579
+
AP3D1
chr19
2100988
2164468
-
ELP2
chr18
36129444
36180557
+
HSPA4
chr5
133052013
133106449
+
RGS1
chr1
192575763
192580024
+
HSD17B4
chr5
119452473
119637199
+
ZFP36L1
chr14
68787660
68796253
-
HMGA1
chr6
34236873
34246231
+
EEF1B2
chr2
206159585
206162928
+
DYNC1H1
chr14
101964573
102056443
+
DUSP2
chr2
96143169
96145440
-
MCRS1
chr12
49556544
49568145
-
ATRX
chrX
77504878
77786233
-
ZADH2
chr18
75195113
75209139
-
PLIN2
chr9
19108375
19149290
-
TREX1
chr3
48465811
48467645
+
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001731
chr7
100731990
100738448
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC068768.1
chr12
123262060
123262402
+
ARHGAP27P1-BPTFP1-KPNA2P3
chr17
64749663
64781707
-
OTUD6B-AS1
chr8
91059318
91070583
-
SNHG1
chr11
62851984
62855953
-
TUG1
chr22
30969245
30979395
+
XIST
chrX
73820649
73852723
-
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