Entry Detail



General Information

Database ID:exR0190194
RNA Name:hsa-miR-28-5p
RNA Type:miRNA
Chromosome:chr3
Starnd:+
Coordinate:
Start Site(bp):188688794End Site(bp):188688815
External Links:hsa-miR-28-5p



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
RTL8A
chrX
135050932
135052196
-
LYPD3
chr19
43460787
43465608
-
RGMA
chr15
93035273
93089204
-
GLYR1
chr16
4803203
4847288
-
E2F6
chr2
11444375
11466177
-
PTPN23
chr3
47381011
47413435
+
KCTD5
chr16
2682523
2709030
+
GPCPD1
chr20
5544439
5611006
-
ENSA
chr1
150600851
150629612
-
AMOTL2
chr3
134355874
134375479
-
SSR2
chr1
156009048
156020951
-
FAM102A
chr9
127940582
127980989
-
N4BP1
chr16
48538726
48620148
-
CPSF2
chr14
92121969
92172145
+
EZH1
chr17
42700275
42745049
-
KIAA1522
chr1
32741830
32774970
+
LONRF2
chr2
100271875
100322501
-
MAPK1
chr22
21754500
21867680
-
LASP1
chr17
38869859
38921770
+
SMYD1
chr2
88067825
88113384
+
NAPA
chr19
47487637
47515091
-
URGCP
chr7
43875894
43926411
-
SMG5
chr1
156249224
156282825
-
DYRK1A
chr21
37365573
37526358
+
RTL8B
chrX
135020513
135022542
-
SLC31A1
chr9
113221544
113264492
+
SEH1L
chr18
12947133
12987536
+
ZBTB7B
chr1
155002630
155018522
+
TUB
chr11
8019244
8106112
+
TEX261
chr2
70985942
70994873
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0000417
chr12
69644908
69656342
+
hsa_circ_0001146
chr20
34241449
34246936
-
hsa_circ_0001164
chr20
45891031
45923523
-
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC009065.4
chr16
2119207
2120248
+
AC016876.2
chr17
7581964
7584086
-
AC026362.1
chr12
122975320
122982907
+
AC118758.3
chr7
56809214
56848800
-
MALAT1
chr11
65497688
65506516
+
NEAT1
chr11
65422774
65445540
+
OIP5-AS1
chr15
41283990
41309737
+
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