Entry Detail



General Information

Database ID:exR0190554
RNA Name:hsa-miR-654-5p
RNA Type:miRNA
Chromosome:chr14
Starnd:+
Coordinate:
Start Site(bp):101040234End Site(bp):101040255
External Links:hsa-miR-654-5p



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
BCL9L
chr11
118893875
118925608
-
ATP11A
chr13
112690329
112887168
+
PHB
chr17
49404049
49414905
-
ZDHHC3
chr3
44915257
44976185
-
PKM
chr15
72199029
72231822
-
ATXN7L3
chr17
44191805
44200113
-
SH3PXD2A
chr10
103594027
103855543
-
ITGA5
chr12
54395261
54419266
-
TP53
chr17
7661779
7687550
-
CBFA2T3
chr16
88874858
88977207
-
CS
chr12
56271699
56300391
-
LY6E
chr8
143017982
143023832
+
SPINT1
chr15
40844018
40858207
+
AGTRAP
chr1
11736084
11754802
+
URM1
chr9
128371361
128392016
+
BCL7A
chr12
122019422
122062044
+
MEF2D
chr1
156463727
156500779
-
DHCR24
chr1
54849627
54887195
-
JADE2
chr5
134524312
134583230
+
LSM12
chr17
44034328
44067619
-
ZMIZ1
chr10
79068966
79316528
+
TOB2
chr22
41433494
41446801
-
ACTN4
chr19
38647649
38731589
+
XPO6
chr16
28097979
28211920
-
KMT2D
chr12
49018975
49059774
-
SMAD3
chr15
67063763
67195169
+
BCAM
chr19
44809071
44821421
+
IGF2BP1
chr17
48997385
49056145
+
GID4
chr17
18039408
18068405
+
NID1
chr1
235975830
236065109
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0000417
chr12
69644908
69656342
+
hsa_circ_0000642
chr15
80390757
80415142
+
hsa_circ_0000816
chr17
80521229
80526077
+
hsa_circ_0000643
chr15
80412669
80415142
+
hsa_circ_0000943
chr19
47421744
47440665
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC239868.1
chr1
149861271
149862504
+
AL035458.2
chr20
34234840
34281173
-
AL356488.2
chr1
109100193
109100619
+
NEAT1
chr11
65422774
65445540
+
NORAD
chr20
36045618
36051018
-
OIP5-AS1
chr15
41283990
41309737
+
STAG3L5P-PVRIG2P-PILRB
chr7
100336104
100367831
+
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