Entry Detail



General Information

Database ID:exR0190143
RNA Name:hsa-miR-205-5p
RNA Type:miRNA
Chromosome:chr1
Starnd:+
Coordinate:
Start Site(bp):209432166End Site(bp):209432187
External Links:hsa-miR-205-5p



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
DOCK6
chr19
11199295
11262524
-
MKRN2
chr3
12557087
12583713
+
NUP93
chr16
56730118
56850286
+
EP300
chr22
41092592
41180077
+
CDC42
chr1
22025511
22101360
+
LSM1
chr8
38163335
38176730
-
TSPYL4
chr6
116249964
116254075
-
HINT1
chr5
131159027
131171735
-
YTHDF2
chr1
28736621
28769775
+
PPP3CC
chr8
22440819
22541142
+
SLTM
chr15
58879050
58933679
-
RUNX1T1
chr8
91954967
92103286
-
CALM3
chr19
46601074
46610782
+
PRKCSH
chr19
11435288
11450968
+
SFPQ
chr1
35176378
35193145
-
PLXNA1
chr3
126988594
127037392
+
KAZN
chr1
13892792
15118043
+
OGDH
chr7
44606572
44709066
+
ZCCHC8
chr12
122471599
122501073
-
SLC25A3
chr12
98593591
98606379
+
AFF4
chr5
132875395
132963634
-
CAPZA2
chr7
116811070
116922049
+
SLC3A2
chr11
62856102
62888875
+
ACSL1
chr4
184755595
184826818
-
XRCC6
chr22
41621119
41664048
+
NDUFAF1
chr15
41387353
41402519
-
SOSTDC1
chr7
16461481
16530580
-
E2F1
chr20
33675477
33686385
-
CCZ1B
chr7
6794134
6826770
-
GNPDA2
chr4
44682200
44726588
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001434
chr4
106345352
106377902
-
hsa_circ_0001731
chr7
100731990
100738448
+
hsa_circ_0000733
chr17
1561546
1562030
-
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC009133.5
chr16
29808679
29812227
+
GAS5
chr1
173858559
173868882
-
MALAT1
chr11
65497688
65506516
+
MCM3AP-AS1
chr21
46229196
46259390
+
NEAT1
chr11
65422774
65445540
+
NORAD
chr20
36045618
36051018
-
SNHG16
chr17
76557764
76565348
+
SNHG5
chr6
85650491
85678932
-
AL356133.1
chr9
26801733
26805862
+
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