Entry Detail



General Information

Database ID:exR0190159
RNA Name:hsa-miR-214-3p
RNA Type:miRNA
Chromosome:chr1
Starnd:-
Coordinate:
Start Site(bp):172138816End Site(bp):172138837
External Links:hsa-miR-214-3p



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
MTMR12
chr5
32226994
32312987
-
AP3M1
chr10
74120255
74151063
-
AMER1
chrX
64185117
64205708
-
GDI1
chrX
154436913
154443467
+
RPUSD1
chr16
784974
788397
-
SMG5
chr1
156249224
156282825
-
DHX36
chr3
154272546
154324487
-
PIP5K1C
chr19
3630183
3700479
-
C19orf47
chr19
40319536
40348527
-
MTMR3
chr22
29883155
30030866
+
ABHD2
chr15
89087459
89202355
+
MAPKAPK2
chr1
206684944
206734283
+
RHPN1
chr8
143368876
143384221
+
HDLBP
chr2
241227264
241317061
-
ARHGAP35
chr19
46860997
47005077
+
YWHAB
chr20
44885702
44908532
+
WDR5
chr9
134135365
134159968
+
RPS6KA1
chr1
26529761
26575030
+
JPT1
chr17
75135248
75168281
-
SEC61A1
chr3
128051641
128071683
+
TMEM161B
chr5
88189633
88269476
-
NECTIN1
chr11
119623408
119729200
-
SOX11
chr2
5692384
5701385
+
MYH9
chr22
36281277
36388067
-
RAB15
chr14
64945814
64973226
-
PLAGL2
chr20
32192504
32207743
-
TGIF2
chr20
36573488
36593950
+
NRIP1
chr21
14961235
15065936
-
LYSMD2
chr15
51723011
51751585
-
KMT2D
chr12
49018975
49059774
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0000540
chr14
55799534
55821940
+
hsa_circ_0001168
chr20
47691321
47707559
+
hsa_circ_0001146
chr20
34241449
34246936
-
hsa_circ_0000799
chr17
65941524
65972074
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC008040.1
chr3
169939353
169966734
-
AC010442.1
chr5
466124
473098
-
AC016876.2
chr17
7581964
7584086
-
AC068790.9
chr12
124085761
124088598
+
AC109460.3
chr16
28974804
28990775
+
ADAMTSL4-AS1
chr1
150560202
150574552
-
AL031282.2
chr1
1702736
1737688
-
AL160006.1
chr1
110058340
110062555
+
EPB41L4A-AS1
chr5
112160526
112164818
+
FGD5-AS1
chr3
14920347
14948424
-
LINC00665
chr19
36313067
36331770
-
LINC01535
chr19
37251885
37265535
+
MIR17HG
chr13
91347820
91354579
+
NEAT1
chr11
65422774
65445540
+
POLR2J4
chr7
43940895
44019175
-
SNHG16
chr17
76557764
76565348
+
STAG3L5P-PVRIG2P-PILRB
chr7
100336104
100367831
+
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