Entry Detail



General Information

Database ID:exR0190029
RNA Name:hsa-miR-1294
RNA Type:miRNA
Chromosome:chr5
Starnd:+
Coordinate:
Start Site(bp):154347153End Site(bp):154347174
External Links:hsa-miR-1294



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
CYB5R3
chr22
42617840
42649392
-
STK40
chr1
36339624
36385896
-
EIF4A1
chr17
7572706
7579006
+
TRAPPC10
chr21
44012309
44106552
+
ABCA1
chr9
104781006
104928155
-
POGK
chr1
166839447
166856344
+
FGFR1
chr8
38400215
38468834
-
KMT2A
chr11
118436490
118526832
+
RAB8A
chr19
16111889
16134234
+
TEX261
chr2
70985942
70994873
-
ANKRD49
chr11
94493979
94499578
+
PGRMC1
chrX
119236245
119244466
+
PTMS
chr12
6765516
6770952
+
CRY2
chr11
45847118
45883248
+
PTP4A1
chr6
63521746
63583436
+
APLP2
chr11
130068147
130144811
+
CDKN1B
chr12
12715058
12722369
+
UBE2G2
chr21
44768580
44801826
-
PDPR
chr16
70113626
70162537
+
AKT2
chr19
40230317
40285536
-
RNF157
chr17
76142465
76240493
-
ZHX3
chr20
41178448
41317672
-
ARHGAP28
chr18
6729718
6915716
+
PRRC2B
chr9
131373636
131500197
+
FYCO1
chr3
45917899
45995824
-
ZNF512B
chr20
63956704
63969930
-
SMAD7
chr18
48919853
48952052
-
PDE4DIP
chr1
148808181
149048286
+
TAGLN2
chr1
159918107
159925732
-
NACC1
chr19
13116862
13141147
+
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0000247
chr10
74474868
74475660
+
hsa_circ_0000798
chr17
65941524
65944422
+
hsa_circ_0000246
chr10
74468040
74475660
+
hsa_circ_0001085
chr2
191765289
191789319
+
hsa_circ_0000744
chr17
15968183
15971435
-
hsa_circ_0000799
chr17
65941524
65972074
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007161.3
chr7
7640752
8004053
+
AC021078.1
chr5
149494314
149504670
-
AC022150.4
chr19
52650437
52653284
-
AL022311.1
chr22
37876148
37895563
+
H19
chr11
1995176
2001470
-
LINC00265
chr7
39733430
39793092
+
NEAT1
chr11
65422774
65445540
+
TUG1
chr22
30969245
30979395
+
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