Entry Detail



General Information

Database ID:exR0190138
RNA Name:hsa-miR-200c-3p
RNA Type:miRNA
Chromosome:chr12
Starnd:+
Coordinate:
Start Site(bp):6963742End Site(bp):6963764
External Links:hsa-miR-200c-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
CHD9
chr16
53055033
53329150
+
CTNND1
chr11
57753243
57819546
+
FOXP1
chr3
70952817
71583993
-
GPR180
chr13
94601857
94634661
+
KLF3
chr4
38664197
38701517
+
NRBP1
chr2
27427790
27442259
+
NRIP1
chr21
14961235
15065936
-
PTP4A1
chr6
63521746
63583436
+
RBM12
chr20
35648925
35664956
-
SLC35B4
chr7
134289332
134316930
-
SMAD7
chr18
48919853
48952052
-
SRP72
chr4
56467617
56503681
+
THAP2
chr12
71664301
71680644
+
XPO4
chr13
20777329
20903048
-
AC008982.1
chr19
38817471
38840178
-
CASD1
chr7
94509219
94557019
+
CEBPZ
chr2
37201612
37231596
-
ECH1
chr19
38815422
38831841
-
PSMB2
chr1
35599541
35641526
-
SNX5
chr20
17941597
17968980
-
SZRD1
chr1
16352575
16398145
+
WDR13
chrX
48590042
48608869
+
ZNF217
chr20
53567065
53609907
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001731
chr7
100731990
100738448
+
hsa_circ_0001486
chr5
56526672
56527148
+
hsa_circ_0000552
chr14
71880664
71948928
+
hsa_circ_0001358
chr3
169694733
169706147
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC024940.6
chr12
31280422
31280895
-
AC092295.2
chr19
36489649
36491040
+
AC116913.1
chr15
66488658
66492109
-
AF254983.1
chr21
10482738
10605716
+
AL049840.4
chr14
103694516
103695050
-
LINC00667
chr18
5237826
5290608
+
MALAT1
chr11
65497688
65506516
+
NEAT1
chr11
65422774
65445540
+
OIP5-AS1
chr15
41283990
41309737
+
SNHG22
chr18
49814023
49851059
+
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