Entry Detail



General Information

Database ID:exR0190279
RNA Name:hsa-miR-34c-5p
RNA Type:miRNA
Chromosome:chr11
Starnd:+
Coordinate:
Start Site(bp):111513451End Site(bp):111513473
External Links:hsa-miR-34c-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
ZDHHC17
chr12
76763588
76853696
+
PHF19
chr9
120855651
120894896
-
CD151
chr11
832887
839831
+
ATXN7L3
chr17
44191805
44200113
-
TNRC6B
chr22
40044817
40335808
+
GATAD2B
chr1
153789030
153923360
-
SEC61A1
chr3
128051641
128071683
+
NFAT5
chr16
69565094
69704666
+
NPTX1
chr17
80466834
80477843
-
TMEM109
chr11
60914158
60923443
+
SUPT6H
chr17
28662198
28702679
+
ARPP19
chr15
52547045
52569883
-
PXDC1
chr6
3722614
3752026
-
TRIO
chr5
14143342
14532128
+
AGTRAP
chr1
11736084
11754802
+
NCOA1
chr2
24491914
24770702
+
JRK
chr8
142657460
142681968
-
TOB2
chr22
41433494
41446801
-
NFKBIA
chr14
35401511
35404749
-
ANGEL1
chr14
76786168
76826246
-
MTMR9
chr8
11284816
11328146
+
AMER1
chrX
64185117
64205708
-
NECTIN1
chr11
119623408
119729200
-
MRPL19
chr2
75646783
75690851
+
IGSF3
chr1
116574399
116667755
-
FOSL1
chr11
65892049
65900573
-
TKFC
chr11
61333210
61353295
+
CRTC3
chr15
90529923
90645345
+
FGFRL1
chr4
1009936
1026898
+
ZIC5
chr13
99962964
99971909
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001723
chr7
91924202
91948826
+
hsa_circ_0001495
chr5
68470703
68471364
+
hsa_circ_0000943
chr19
47421744
47440665
+
hsa_circ_0000038
chr1
28800065
28802803
+
hsa_circ_0001865
chr9
86292641
86293514
-
hsa_circ_0001146
chr20
34241449
34246936
-
hsa_circ_0001164
chr20
45891031
45923523
-
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC018521.1
chr17
47945424
47981736
+
AC116913.1
chr15
66488658
66492109
-
HCG18
chr6
30286690
30327382
-
KCNQ1OT1
chr11
2608328
2699994
-
LINC00665
chr19
36313067
36331770
-
NEAT1
chr11
65422774
65445540
+
SNHG7
chr9
136721366
136728184
-
TERC
chr3
169764520
169765060
-
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