Entry Detail



General Information

Database ID:exR0190219
RNA Name:hsa-miR-31-5p
RNA Type:miRNA
Chromosome:chr9
Starnd:-
Coordinate:
Start Site(bp):21512158End Site(bp):21512178
External Links:hsa-miR-31-5p



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
ABHD4
chr14
22598237
22613215
+
ANKRD52
chr12
56237807
56258384
-
BACH2
chr6
89926528
90296908
-
CHD1
chr5
98853985
98928957
-
CTNND1
chr11
57753243
57819546
+
FAM222B
chr17
28755978
28855232
-
FURIN
chr15
90868588
90883458
+
GRK2
chr11
67266473
67286556
+
HACD3
chr15
65530418
65578349
+
HOXA7
chr7
27153716
27157936
-
KIF3B
chr20
32277651
32335011
+
LONRF1
chr8
12721906
12756073
-
MAP3K14
chr17
45263119
45317029
-
PATL1
chr11
59636716
59669037
-
PLCB1
chr20
8077251
8968360
+
PPP1R3C
chr10
91628442
91633071
-
PRRC2B
chr9
131373636
131500197
+
RTL8B
chrX
135020513
135022542
-
RTL8C
chrX
135032355
135033546
+
SERF2
chr15
43777087
43802589
+
SMAD3
chr15
67063763
67195169
+
TRIM35
chr8
27284886
27311272
-
XPNPEP3
chr22
40857077
40932815
+
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001728
chr7
99695763
99695845
-
hsa_circ_0001349
chr3
152132729
152150709
+
hsa_circ_0000241
chr10
70847874
70856944
+
hsa_circ_0000931
chr19
38226804
38231095
-
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004832.5
chr22
30420512
30420912
+
AC016876.2
chr17
7581964
7584086
-
AC074117.1
chr2
27356246
27367622
+
AC087477.2
chr15
96354237
96405235
+
GAS5
chr1
173858559
173868882
-
MAGI2-AS3
chr7
79452877
79471208
+
MIR497HG
chr17
7015818
7019659
-
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