Entry Detail



General Information

Database ID:exR0190263
RNA Name:hsa-miR-330-5p
RNA Type:miRNA
Chromosome:chr19
Starnd:-
Coordinate:
Start Site(bp):45639049End Site(bp):45639070
External Links:hsa-miR-330-5p



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
ZNF3
chr7
100064033
100082548
-
ALDH5A1
chr6
24494867
24537207
+
ENG
chr9
127815012
127854756
-
NEMP1
chr12
57055643
57088063
-
STX3
chr11
59713456
59805882
+
RTL10
chr22
19846138
19854896
-
GIPC1
chr19
14477760
14496149
-
ANKRD13B
chr17
29589769
29614761
+
UBE4A
chr11
118359585
118399211
+
MARK2
chr11
63838928
63911019
+
ATXN1
chr6
16299112
16761491
-
NME4
chr16
396725
410367
+
TMEM127
chr2
96248516
96265994
-
PDXK
chr21
43719094
43762307
+
GUCD1
chr22
24540423
24555935
-
MTG2
chr20
62183029
62203568
+
VLDLR
chr9
2621787
2660056
+
EIF4A1
chr17
7572706
7579006
+
GIGYF1
chr7
100679507
100694037
-
DOLPP1
chr9
129081111
129090438
+
SMAD3
chr15
67063763
67195169
+
MAP4
chr3
47850690
48089272
-
ABL1
chr9
130713016
130887675
+
PAQR4
chr16
2969270
2973484
+
NR4A2
chr2
156324437
156342348
-
CRTC3
chr15
90529923
90645345
+
PPME1
chr11
74171267
74254703
+
GOSR2
chr17
46923075
46975524
+
MYO1C
chr17
1464186
1492686
-
AGTRAP
chr1
11736084
11754802
+
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0000128
chr1
151139409
151139890
+
hsa_circ_0000384
chr12
27867712
27877119
+
hsa_circ_0001727
chr7
99621041
99621930
+
hsa_circ_0001865
chr9
86292641
86293514
-
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC016876.2
chr17
7581964
7584086
-
AC144548.1
chr12
110387463
110445548
-
AL355075.4
chr14
20343048
20343685
-
AL359924.1
chr1
237862175
237928321
+
AP000553.1
chr22
21652270
21670237
+
KCNQ1OT1
chr11
2608328
2699994
-
MIRLET7BHG
chr22
46053869
46113928
+
NEAT1
chr11
65422774
65445540
+
SNHG1
chr11
62851984
62855953
-
SNHG3
chr1
28505980
28510892
+
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