Entry Detail



General Information

Database ID:exR0190028
RNA Name:hsa-miR-129-5p
RNA Type:miRNA
Chromosome:chr7
Starnd:+
Coordinate:
Start Site(bp):128207876End Site(bp):128207896
External Links:hsa-miR-129-5p



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
TNRC6B
chr22
40044817
40335808
+
KRIT1
chr7
92198969
92246166
-
SLC7A2
chr8
17497088
17570573
+
TRIM71
chr3
32817997
32897824
+
SHCBP1
chr16
46578591
46621379
-
NEDD4
chr15
55826922
55993746
-
ZNF605
chr12
132918306
132956306
-
DDX18
chr2
117814691
117832377
+
CPSF7
chr11
61402641
61430031
-
RAD1
chr5
34905260
34918989
-
UBN2
chr7
139230356
139308236
+
DEGS1
chr1
224175756
224193441
+
SEC62
chr3
169966635
169998373
+
CRK
chr17
1420689
1463162
-
SLC35E1
chr19
16549831
16572415
-
TRIM14
chr9
98069275
98119222
-
ALDH5A1
chr6
24494867
24537207
+
UFL1
chr6
96521595
96555276
+
DUSP14
chr17
37489891
37513501
+
WSB1
chr17
27294076
27315926
+
DNAJC24
chr11
31369840
31432835
+
CHURC1
chr14
64914361
64944591
+
MLEC
chr12
120687149
120701859
+
CAMTA1
chr1
6785454
7769706
+
THUMPD1
chr16
20702816
20742084
-
EIF4A1
chr17
7572706
7579006
+
ACER3
chr11
76860867
77026797
+
TTPAL
chr20
44475874
44494603
+
PDS5A
chr4
39822863
39977956
-
FBXW7
chr4
152320544
152536092
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0000943
chr19
47421744
47440665
+
hsa_circ_0001168
chr20
47691321
47707559
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004069.1
chr4
105137280
105140619
-
AC097634.1
chr3
71584943
71587409
+
AL049795.2
chr1
32170733
32176568
+
FGD5-AS1
chr3
14920347
14948424
-
MALAT1
chr11
65497688
65506516
+
NEAT1
chr11
65422774
65445540
+
NUTM2A-AS1
chr10
87201647
87342612
-
OIP5-AS1
chr15
41283990
41309737
+
TBC1D3P1-DHX40P1
chr17
59962363
60018975
-
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