Entry Detail



General Information

Database ID:exR0190447
RNA Name:hsa-miR-516b-5p
RNA Type:miRNA
Chromosome:chr19
Starnd:+
Coordinate:
Start Site(bp):53736860End Site(bp):53736881
External Links:hsa-miR-516b-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
BCL2L11
chr2
111119378
111168445
+
CHKB-CPT1B
chr22
50568869
50582965
-
CPT1B
chr22
50568861
50578465
-
DNAJC9
chr10
73183362
73247255
-
FAM13B
chr5
137937960
138051961
-
FNBP4
chr11
47716494
47767443
-
FOSL2
chr2
28392448
28417317
+
FSD1
chr19
4304598
4323843
+
GOLGA1
chr9
124878275
124948492
-
HIF1AN
chr10
100529072
100559998
+
MAK16
chr8
33485182
33501262
+
NEMP1
chr12
57055643
57088063
-
NID1
chr1
235975830
236065109
-
PIGS
chr17
28553383
28571794
-
QSER1
chr11
32892820
32993316
+
RABGAP1
chr9
122940833
123104866
+
S100A16
chr1
153606886
153613145
-
SGPP1
chr14
63684216
63728065
-
STAT3
chr17
42313324
42388568
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0000698
chr16
47531309
47549512
+
hsa_circ_0001727
chr7
99621041
99621930
+
hsa_circ_0001495
chr5
68470703
68471364
+
hsa_circ_0000825
chr18
8718421
8720494
+
hsa_circ_0001387
chr4
1902352
1936989
+
hsa_circ_0000038
chr1
28800065
28802803
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC016876.2
chr17
7581964
7584086
-
AC079781.5
chr7
97851688
97972985
-
AL157392.3
chr10
13631143
13668445
+
COL4A2-AS2
chr13
110456396
110463287
-
LINC00324
chr17
8220642
8224043
-
LINC01184
chr5
127939152
128083172
-
MIR194-2HG
chr11
64889560
64893449
-
NEAT1
chr11
65422774
65445540
+
PCBP1-AS1
chr2
69962263
70103220
-
TBC1D3P1-DHX40P1
chr17
59962363
60018975
-
TUG1
chr22
30969245
30979395
+
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