Entry Detail



General Information

Database ID:exR0190262
RNA Name:hsa-miR-330-3p
RNA Type:miRNA
Chromosome:chr19
Starnd:-
Coordinate:
Start Site(bp):45639009End Site(bp):45639031
External Links:hsa-miR-330-3p



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
ANP32B
chr9
97983341
98015943
+
ATRX
chrX
77504878
77786233
-
BCL2L11
chr2
111119378
111168445
+
CBX2
chr17
79778148
79787983
+
CCSER2
chr10
84328586
84518521
+
CRCP
chr7
66114604
66154568
+
DAG1
chr3
49468703
49535618
+
ERLIN1
chr10
100150094
100186033
-
GNAI2
chr3
50226292
50259362
+
HNRNPAB
chr5
178204533
178211163
+
MRFAP1
chr4
6640091
6642745
+
MTMR12
chr5
32226994
32312987
-
NPAT
chr11
108157215
108222638
-
PFN1
chr17
4945652
4949061
-
PKN2
chr1
88684222
88836255
+
RAB10
chr2
26034084
26137454
+
SNX27
chr1
151612006
151699091
+
TNKS
chr8
9555912
9782346
+
TOMM34
chr20
44942130
44960397
-
TRIM25
chr17
56836387
56914080
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0000591
chr15
41961025
41962156
+
hsa_circ_0000540
chr14
55799534
55821940
+
hsa_circ_0001731
chr7
100731990
100738448
+
hsa_circ_0001168
chr20
47691321
47707559
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC020978.7
chr16
68224713
68227734
+
AC079781.5
chr7
97851688
97972985
-
AC124045.1
chr3
44667412
44669364
+
AC125257.1
chr17
41848518
41851447
-
AL132655.1
chr20
58833809
58836529
-
AL137129.1
chr14
61734138
61776260
+
AL157392.3
chr10
13631143
13668445
+
FGD5-AS1
chr3
14920347
14948424
-
MIR663AHG
chr20
26167817
26251546
-
NEAT1
chr11
65422774
65445540
+
OIP5-AS1
chr15
41283990
41309737
+
SNHG25
chr17
64145970
64146476
+
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