Entry Detail



General Information

Database ID:exR0190070
RNA Name:hsa-miR-148a-3p
RNA Type:miRNA
Chromosome:chr7
Starnd:-
Coordinate:
Start Site(bp):25949922End Site(bp):25949943
External Links:hsa-miR-148a-3p



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
CD151
chr11
832887
839831
+
DYRK1A
chr21
37365573
37526358
+
E2F1
chr20
33675477
33686385
-
EMP1
chr12
13196723
13219941
+
FAM47E-STBD1
chr4
76251721
76311129
+
KLF4
chr9
107484852
107490482
-
LENG8
chr19
54448887
54462037
+
LYSMD2
chr15
51723011
51751585
-
LYSMD4
chr15
99715697
99733561
-
MLPH
chr2
237485428
237555322
+
MTMR9
chr8
11284816
11328146
+
NDST1
chr5
150485818
150558211
+
NFE2L1
chr17
48048329
48061545
+
OSBPL11
chr3
125528858
125595497
-
PFAS
chr17
8247618
8270491
+
PGRMC1
chrX
119236245
119244466
+
RC3H1
chr1
173931084
174022357
-
RNF145
chr5
159157409
159210053
-
RTN4
chr2
54972187
55112621
-
SELENON
chr1
25800176
25818221
+
STARD13
chr13
33103137
33350630
-
STBD1
chr4
76306026
76311599
+
SYVN1
chr11
65121780
65134533
-
TBC1D5
chr3
17157162
18444817
-
TMF1
chr3
69019827
69052339
-
TOMM70
chr3
100363431
100401089
-
TRIM3
chr11
6448613
6474459
-
VPS45
chr1
150067279
150145329
+
ZNF512B
chr20
63956704
63969930
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001454
chr4
154524454
154533552
+
hsa_circ_0000384
chr12
27867712
27877119
+
hsa_circ_0000284
chr11
33307958
33309057
+
hsa_circ_0000943
chr19
47421744
47440665
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007780.1
chr17
68413623
68524949
+
AC073896.4
chr12
56162359
56190284
-
AL049840.4
chr14
103694516
103695050
-
AL603839.3
chr1
40493157
40508661
-
H19
chr11
1995176
2001470
-
HCG18
chr6
30286690
30327382
-
KCNQ1OT1
chr11
2608328
2699994
-
LINC01089
chr12
121795267
121803906
-
NEAT1
chr11
65422774
65445540
+
NUTM2A-AS1
chr10
87201647
87342612
-
NUTM2B-AS1
chr10
79661394
79826594
-
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