Entry Detail



General Information

Database ID:exR0190651
RNA Name:hsa-miR-93-5p
RNA Type:miRNA
Chromosome:chr7
Starnd:-
Coordinate:
Start Site(bp):100093815End Site(bp):100093837
External Links:hsa-miR-93-5p



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
AFF4
chr5
132875395
132963634
-
ADARB1
chr21
45073853
45226560
+
LONP2
chr16
48244300
48363122
+
ZNF468
chr19
52838010
52857649
-
CAPRIN1
chr11
34051731
34102610
+
C9orf40
chr9
74946583
74952912
-
WAC
chr10
28532493
28623112
+
MAP3K3
chr17
63622415
63696303
+
SEC16A
chr9
136440096
136483759
-
WASF3
chr13
26557683
26688948
+
NUDT21
chr16
56429133
56452199
-
NAA16
chr13
41311267
41377030
+
DYNLRB1
chr20
34516409
34540958
+
OCRL
chrX
129539849
129592561
+
CLIP4
chr2
29097705
29189643
+
SLAIN2
chr4
48341529
48426201
+
SLC46A3
chr13
28700064
28718970
-
CHD2
chr15
92900189
93027996
+
MTHFR
chr1
11785723
11806455
-
ZDHHC12
chr9
128720870
128724127
-
KLHL28
chr14
44924319
45042322
-
EFNA3
chr1
155078837
155087538
+
LDLRAD3
chr11
35943981
36232136
+
WIPF2
chr17
40219304
40284136
+
PXYLP1
chr3
141228726
141367753
+
FCF1
chr14
74713144
74738620
+
EAPP
chr14
34515938
34539711
-
PDRG1
chr20
31944337
31952046
-
CHD9
chr16
53055033
53329150
+
CUL1
chr7
148697914
148801110
+
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001495
chr5
68470703
68471364
+
hsa_circ_0000494
chr13
76134888
76143643
+
hsa_circ_0000018
chr1
15860731
15863309
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC015871.3
chr15
79920195
79922455
-
AC021078.1
chr5
149494314
149504670
-
AC021092.1
chr19
44103007
44113183
-
AC024940.6
chr12
31280422
31280895
-
AC084082.1
chr8
66112667
66126632
+
AC087477.2
chr15
96354237
96405235
+
AC243964.3
chr19
44631573
44725217
-
AL031428.1
chr1
23020147
23088058
-
AL137782.1
chr13
75549773
75807120
+
AL158206.1
chr9
19453209
19455173
+
AL161772.1
chr13
20699307
20703718
-
ARHGAP27P1-BPTFP1-KPNA2P3
chr17
64749663
64781707
-
CKMT2-AS1
chr5
81201341
81301565
-
EPB41L4A-AS1
chr5
112160526
112164818
+
ERICD
chr8
140636281
140638283
+
FGD5-AS1
chr3
14920347
14948424
-
H19
chr11
1995176
2001470
-
HAGLR
chr2
176164051
176188958
-
HOTAIR
chr12
53962308
53974956
-
MALAT1
chr11
65497688
65506516
+
NEAT1
chr11
65422774
65445540
+
NORAD
chr20
36045618
36051018
-
SNHG16
chr17
76557764
76565348
+
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