Entry Detail



General Information

Database ID:exR0190352
RNA Name:hsa-miR-432-5p
RNA Type:miRNA
Chromosome:chr14
Starnd:+
Coordinate:
Start Site(bp):100884496End Site(bp):100884518
External Links:hsa-miR-432-5p



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
ABL1
chr9
130713016
130887675
+
ANXA2
chr15
60347134
60402883
-
ATP5MC3
chr2
175176258
175184607
-
BLCAP
chr20
37492472
37527931
-
CA12
chr15
63321378
63381846
-
CALM1
chr14
90396502
90408268
+
CELSR2
chr1
109249539
109275751
+
CHTF8
chr16
69118010
69132578
-
DNAJC13
chr3
132417502
132539032
+
EPB41
chr1
28887091
29120046
+
FADS2
chr11
61792980
61867354
+
FN1
chr2
215360440
215436073
-
GGA3
chr17
75236599
75262363
-
GNAI2
chr3
50226292
50259362
+
HMBOX1
chr8
28890395
29064764
+
IGF1R
chr15
98648539
98964530
+
IPO9
chr1
201829149
201884291
+
KDM3B
chr5
138352685
138437028
+
MFHAS1
chr8
8783354
8893630
-
NAPEPLD
chr7
103099776
103149560
-
PHC3
chr3
170086732
170181749
-
PRELID3B
chr20
59033145
59042809
-
PTCD3
chr2
86106223
86142157
+
RASA1
chr5
87267883
87391931
+
SETD7
chr4
139495941
139606699
-
STAMBP
chr2
73828916
73873659
+
TMEM63A
chr1
225845536
225882380
-
TOB2
chr22
41433494
41446801
-
ZBTB34
chr9
126860665
126885878
+
ZNF12
chr7
6688433
6706947
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001454
chr4
154524454
154533552
+
hsa_circ_0001349
chr3
152132729
152150709
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC009133.5
chr16
29808679
29812227
+
AC016876.2
chr17
7581964
7584086
-
AC068768.1
chr12
123262060
123262402
+
AC239868.1
chr1
149861271
149862504
+
KCNQ1OT1
chr11
2608328
2699994
-
LINC00649
chr21
33915534
33977691
+
NEAT1
chr11
65422774
65445540
+
PCBP2-OT1
chr12
53464468
53465057
+
SNHG16
chr17
76557764
76565348
+
XIST
chrX
73820649
73852723
-
ZFAS1
chr20
49278178
49299600
+
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