Entry Detail



General Information

Database ID:exR0190053
RNA Name:hsa-miR-138-5p
RNA Type:miRNA
Chromosome:chr16
Starnd:+
Coordinate:
Start Site(bp):56858527End Site(bp):56858549
External Links:hsa-miR-138-5p



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
KRT80
chr12
52168996
52192014
-
STX3
chr11
59713456
59805882
+
SIN3A
chr15
75369379
75455842
-
RNH1
chr11
494512
507300
-
ACTN4
chr19
38647649
38731589
+
CDCA7L
chr7
21900899
21945903
-
COPS7B
chr2
231781671
231809254
+
LARP4B
chr10
806914
931705
-
GSK3A
chr19
42230190
42242625
-
GNAI2
chr3
50226292
50259362
+
NINJ1
chr9
93121496
93134251
-
IGF2BP1
chr17
48997385
49056145
+
TFAP2A
chr6
10393186
10419659
-
FOXC1
chr6
1609915
1613897
+
PATL1
chr11
59636716
59669037
-
SRF
chr6
43171269
43181506
+
MAFG
chr17
81918270
81927735
-
AHDC1
chr1
27534035
27604431
-
FOXP4
chr6
41546426
41602384
+
HIF1AN
chr10
100529072
100559998
+
PRKACA
chr19
14091688
14118084
-
SMG1
chr16
18804853
18926454
-
IQGAP1
chr15
90388242
90502239
+
CTDSP1
chr2
218398256
218405941
+
HMGA1
chr6
34236873
34246231
+
KLF11
chr2
10042849
10054836
+
ZHX2
chr8
122781655
122974510
+
IQSEC1
chr3
12897043
13283281
-
PLXNB2
chr22
50274979
50307646
-
TRIB1
chr8
125430358
125438403
+
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001454
chr4
154524454
154533552
+
hsa_circ_0000402
chr12
53670403
53671011
+
hsa_circ_0000798
chr17
65941524
65944422
+
hsa_circ_0001146
chr20
34241449
34246936
-
hsa_circ_0000799
chr17
65941524
65972074
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC092718.4
chr16
81030770
81031485
+
AC144548.1
chr12
110387463
110445548
-
AL137127.1
chr1
19072110
19075511
-
H19
chr11
1995176
2001470
-
MCF2L-AS1
chr13
112967484
112968824
-
MCM3AP-AS1
chr21
46229196
46259390
+
NEAT1
chr11
65422774
65445540
+
PARD6G-AS1
chr18
80147924
80179839
+
STAG3L5P-PVRIG2P-PILRB
chr7
100336104
100367831
+
TUG1
chr22
30969245
30979395
+
TFAP2A-AS1
chr6
10409340
10416446
+
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