Entry Detail



General Information

Database ID:exR0190377
RNA Name:hsa-miR-454-3p
RNA Type:miRNA
Chromosome:chr17
Starnd:-
Coordinate:
Start Site(bp):59137787End Site(bp):59137809
External Links:hsa-miR-454-3p



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
TARDBP
chr1
11012344
11026420
+
PPP1R9A
chr7
94907202
95296415
+
KIAA0232
chr4
6781375
6884170
+
ITGB8
chr7
20330702
20415754
+
PHF20
chr20
35771974
35950370
+
ATP6V1C1
chr8
103021063
103073051
+
CALU
chr7
128739292
128773400
+
CIT
chr12
119685791
119877320
-
G6PD
chrX
154531391
154547572
-
CHD9
chr16
53055033
53329150
+
BHLHE40
chr3
4979437
4985323
+
ADARB1
chr21
45073853
45226560
+
SLC12A7
chr5
1050384
1112063
-
EIF5A2
chr3
170888418
170908644
-
TGIF2
chr20
36573488
36593950
+
AKAP10
chr17
19904302
19978343
-
MLPH
chr2
237485428
237555322
+
CD151
chr11
832887
839831
+
LDLRAD3
chr11
35943981
36232136
+
UBQLN1
chr9
83659968
83707958
-
APCDD1
chr18
10454635
10489949
+
SYNJ1
chr21
32628759
32728048
-
MPPED2
chr11
30384493
30586872
-
LYSMD2
chr15
51723011
51751585
-
PRICKLE2
chr3
64092236
64445476
-
MLLT1
chr19
6210381
6279975
-
RTN4
chr2
54972187
55112621
-
MTMR9
chr8
11284816
11328146
+
MAP3K20
chr2
173075435
173268015
+
SH3PXD2A
chr10
103594027
103855543
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0000591
chr15
41961025
41962156
+
hsa_circ_0001454
chr4
154524454
154533552
+
hsa_circ_0000384
chr12
27867712
27877119
+
hsa_circ_0001723
chr7
91924202
91948826
+
hsa_circ_0000892
chr19
11941431
12014514
+
hsa_circ_0001605
chr6
42903447
42905047
+
hsa_circ_0000155
chr1
168007608
168014465
+
hsa_circ_0001495
chr5
68470703
68471364
+
hsa_circ_0000943
chr19
47421744
47440665
+
hsa_circ_0000018
chr1
15860731
15863309
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC011503.2
chr19
23927788
23929287
+
AC021092.1
chr19
44103007
44113183
-
AC135050.6
chr16
31122235
31124064
+
AC234582.1
chr1
155195004
155205495
+
AL031595.3
chr22
44139365
44153626
+
AL049840.4
chr14
103694516
103695050
-
AL158206.1
chr9
19453209
19455173
+
AL158825.2
chr9
75009828
75016036
-
AL603839.3
chr1
40493157
40508661
-
CKMT2-AS1
chr5
81201341
81301565
-
H19
chr11
1995176
2001470
-
HAGLR
chr2
176164051
176188958
-
KCNQ1OT1
chr11
2608328
2699994
-
LINC01089
chr12
121795267
121803906
-
MIR17HG
chr13
91347820
91354579
+
NEAT1
chr11
65422774
65445540
+
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