Entry Detail



General Information

Database ID:exR0189973
RNA Name:hsa-let-7e-5p
RNA Type:miRNA
Chromosome:chr19
Starnd:+
Coordinate:
Start Site(bp):51692793End Site(bp):51692814
External Links:hsa-let-7e-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
ARHGAP28
chr18
6729718
6915716
+
BACH1
chr21
29194071
29630751
+
BCAM
chr19
44809071
44821421
+
BLOC1S6
chr15
45587214
45615945
+
C15orf41
chr15
36579626
36810248
+
C19orf53
chr19
13774456
13778773
+
COIL
chr17
56938199
56961050
-
CTPS2
chrX
16587999
16712936
-
GRPEL2
chr5
149345430
149354583
+
HDLBP
chr2
241227264
241317061
-
HMGA1
chr6
34236873
34246231
+
IGDCC3
chr15
65327127
65378002
-
IGF2BP1
chr17
48997385
49056145
+
MNT
chr17
2384073
2401104
-
MPDZ
chr9
13105704
13279590
-
OPA3
chr19
45527427
45602212
-
PACS1
chr11
66070272
66244744
+
PDPR
chr16
70113626
70162537
+
PHC3
chr3
170086732
170181749
-
PLD3
chr19
40348456
40380439
+
PLPP6
chr9
4662294
4665258
+
PPARA
chr22
46150521
46243756
+
RAB40C
chr16
589357
629272
+
RANBP2
chr2
108719482
108785809
+
SH3PXD2B
chr5
172325000
172454525
-
TECPR2
chr14
102362941
102502477
+
TNRC6B
chr22
40044817
40335808
+
TRIM65
chr17
75880335
75896951
-
UBE2G2
chr21
44768580
44801826
-
YOD1
chr1
207043849
207052980
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0000247
chr10
74474868
74475660
+
hsa_circ_0000987
chr2
30748452
30756180
+
hsa_circ_0000246
chr10
74468040
74475660
+
hsa_circ_0000018
chr1
15860731
15863309
+
hsa_circ_0000038
chr1
28800065
28802803
+
hsa_circ_0000799
chr17
65941524
65972074
+
hsa_circ_0001164
chr20
45891031
45923523
-
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC006064.5
chr12
6510275
6510522
+
AC074117.1
chr2
27356246
27367622
+
AC109460.3
chr16
28974804
28990775
+
AC124045.1
chr3
44667412
44669364
+
AP000766.1
chr11
107312132
107316271
-
ARHGAP27P1-BPTFP1-KPNA2P3
chr17
64749663
64781707
-
KCNQ1OT1
chr11
2608328
2699994
-
LINC00265
chr7
39733430
39793092
+
LINC02381
chr12
54126082
54147485
+
MIRLET7BHG
chr22
46053869
46113928
+
NEAT1
chr11
65422774
65445540
+
NUTM2A-AS1
chr10
87201647
87342612
-
SNHG16
chr17
76557764
76565348
+
SNHG4
chr5
139274102
139284899
+
TMPO-AS1
chr12
98512973
98516422
-
XIST
chrX
73820649
73852723
-
ZNF436-AS1
chr1
23368997
23371839
+
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