Entry Detail



General Information

Database ID:exR0190105
RNA Name:hsa-miR-183-5p
RNA Type:miRNA
Chromosome:chr7
Starnd:-
Coordinate:
Start Site(bp):129774967End Site(bp):129774988
External Links:hsa-miR-183-5p



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
CPNE3
chr8
86514435
86561498
+
ENAH
chr1
225486835
225653142
-
GAPDH
chr12
6534512
6538374
+
GNG5
chr1
84498325
84506581
-
MYLIP
chr6
16129086
16148248
+
NCK2
chr2
105744912
105894274
+
NDST1
chr5
150485818
150558211
+
NR4A2
chr2
156324437
156342348
-
PRKAR2A
chr3
48744597
48847874
-
RAB8A
chr19
16111889
16134234
+
RBFOX2
chr22
35738736
36028824
-
RNF169
chr11
74748849
74842413
+
RTL8A
chrX
135050932
135052196
-
RTL8B
chrX
135020513
135022542
-
SIN3A
chr15
75369379
75455842
-
TGOLN2
chr2
85318020
85328296
-
VANGL1
chr1
115641970
115698224
+
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001164
chr20
45891031
45923523
-
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC126365.1
chr17
20788071
20789584
+
AL132780.1
chr14
22929607
22956374
+
KCNQ1OT1
chr11
2608328
2699994
-
MIRLET7BHG
chr22
46053869
46113928
+
NEAT1
chr11
65422774
65445540
+
OIP5-AS1
chr15
41283990
41309737
+
SNHG16
chr17
76557764
76565348
+
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