Entry Detail



General Information

Database ID:exR0189998
RNA Name:hsa-miR-122-5p
RNA Type:miRNA
Chromosome:chr18
Starnd:+
Coordinate:
Start Site(bp):58451088End Site(bp):58451109
External Links:hsa-miR-122-5p



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
MSI2
chr17
57255851
57684689
+
FAM102A
chr9
127940582
127980989
-
NAGK
chr2
71064344
71079808
+
SPRED2
chr2
65310851
65432637
-
HGSNAT
chr8
43140464
43202855
+
PPDPF
chr20
63520765
63522206
+
SH3GL1
chr19
4360370
4400547
-
SETD1A
chr16
30957754
30984664
+
PEA15
chr1
160205337
160215376
+
C19orf54
chr19
40740856
40751553
-
PIP4K2A
chr10
22534854
22714578
-
RPRD1B
chr20
38033725
38127780
+
CACNG4
chr17
66964707
67033398
+
SOX11
chr2
5692384
5701385
+
IGFBP5
chr2
216672105
216695549
-
RAB1B
chr11
66268590
66277492
+
CSRP1
chr1
201483530
201509456
-
VTI1A
chr10
112446998
112818744
+
ZNF3
chr7
100064033
100082548
-
NHLRC3
chr13
39038306
39050109
+
ZNF614
chr19
52012765
52030240
-
NDOR1
chr9
137205685
137217009
+
ALDOA
chr16
30064164
30070457
+
GRK3
chr22
25564675
25729294
+
C19orf47
chr19
40319536
40348527
-
SLC9A1
chr1
27098809
27166981
-
STK4
chr20
44966479
45080021
+
IER2
chr19
13150411
13154911
+
PRR12
chr19
49591182
49626439
+
KRT7
chr12
52232520
52252186
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC021092.1
chr19
44103007
44113183
-
AC103702.1
chr17
48579630
48582259
-
AL358472.3
chr1
153966516
153966930
+
AL645465.1
chr1
244375100
244409592
-
DSCAM-AS1
chr21
40383083
40385358
+
NEAT1
chr11
65422774
65445540
+
SNHG7
chr9
136721366
136728184
-
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