Entry Detail



General Information

Database ID:exR0190127
RNA Name:hsa-miR-196b-5p
RNA Type:miRNA
Chromosome:chr7
Starnd:-
Coordinate:
Start Site(bp):27169528End Site(bp):27169549
External Links:hsa-miR-196b-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
ACP1
chr2
264140
278283
+
ARHGAP28
chr18
6729718
6915716
+
ARL5A
chr2
151788984
151828492
-
BLOC1S6
chr15
45587214
45615945
+
C15orf41
chr15
36579626
36810248
+
C19orf53
chr19
13774456
13778773
+
COL6A2
chr21
46098112
46132848
+
CS
chr12
56271699
56300391
-
FAM222B
chr17
28755978
28855232
-
HOXA7
chr7
27153716
27157936
-
IGDCC3
chr15
65327127
65378002
-
IGF2BP1
chr17
48997385
49056145
+
LDOC1
chrX
141111605
141177129
-
LYSMD2
chr15
51723011
51751585
-
PDE6D
chr2
231732433
231786272
-
PFKFB3
chr10
6144934
6254644
+
TMEM161B
chr5
88189633
88269476
-
XPO4
chr13
20777329
20903048
-
XPO6
chr16
28097979
28211920
-
ZMYND11
chr10
134465
254637
+
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001454
chr4
154524454
154533552
+
hsa_circ_0000095
chr1
95609446
95616975
+
hsa_circ_0001522
chr5
122881110
122893258
+
hsa_circ_0000799
chr17
65941524
65972074
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005034.3
chr2
75697583
75697996
+
ARHGAP27P1-BPTFP1-KPNA2P3
chr17
64749663
64781707
-
FGD5-AS1
chr3
14920347
14948424
-
GAS5
chr1
173858559
173868882
-
H19
chr11
1995176
2001470
-
KCNQ1OT1
chr11
2608328
2699994
-
NEAT1
chr11
65422774
65445540
+
SNHG16
chr17
76557764
76565348
+
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