Entry Detail



General Information

Database ID:exR0190531
RNA Name:hsa-miR-625-5p
RNA Type:miRNA
Chromosome:chr14
Starnd:+
Coordinate:
Start Site(bp):65471116End Site(bp):65471136
External Links:hsa-miR-625-5p



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
PPP2R1A
chr19
52190048
52229518
+
SF3B3
chr16
70523791
70577670
+
LRFN1
chr19
39306568
39315336
-
SLC6A6
chr3
14402576
14489349
+
VPS37B
chr12
122865330
122896127
-
SMARCC2
chr12
56162359
56189567
-
WIZ
chr19
15419978
15449956
-
SLC7A5
chr16
87830023
87869507
-
MED22
chr9
133338312
133348131
-
PPARD
chr6
35342558
35428191
+
FAM102A
chr9
127940582
127980989
-
ABL2
chr1
179099330
179229684
-
PPP6C
chr9
125146573
125189939
-
ABCF2
chr7
151207837
151227166
-
ABHD14A-ACY1
chr3
51974706
51989183
+
BCL9L
chr11
118893875
118925608
-
JUN
chr1
58780791
58784047
-
NUMB
chr14
73275107
73458617
-
SDF2
chr17
28648346
28662189
-
SREBF2
chr22
41833079
41907307
+
COL6A2
chr21
46098112
46132848
+
ACY1
chr3
51983340
51989197
+
E2F1
chr20
33675477
33686385
-
PRDX2
chr19
12796820
12801800
-
MSI1
chr12
120341330
120369164
-
COPS7B
chr2
231781671
231809254
+
CPSF7
chr11
61402641
61430031
-
SCAMP4
chr19
1905372
1926013
+
ITGA5
chr12
54395261
54419266
-
RNF44
chr5
176526712
176538025
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001434
chr4
106345352
106377902
-
hsa_circ_0001409
chr4
48835417
48859382
+
hsa_circ_0001358
chr3
169694733
169706147
+
hsa_circ_0001146
chr20
34241449
34246936
-
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC010542.4
chr16
66549280
66551189
+
AC145207.5
chr17
81878425
81881106
-
AC234582.1
chr1
155195004
155205495
+
H19
chr11
1995176
2001470
-
LINC00240
chr6
26956932
27059749
+
MALAT1
chr11
65497688
65506516
+
SNHG7
chr9
136721366
136728184
-
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