Entry Detail



General Information

Database ID:exR0190196
RNA Name:hsa-miR-299-3p
RNA Type:miRNA
Chromosome:chr14
Starnd:+
Coordinate:
Start Site(bp):101023832End Site(bp):101023853
External Links:hsa-miR-299-3p



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
AFF4
chr5
132875395
132963634
-
AK2
chr1
33007940
33080996
-
AP3M1
chr10
74120255
74151063
-
ARCN1
chr11
118572390
118603033
+
CASP2
chr7
143288215
143307696
+
CMIP
chr16
81445170
81711762
+
COL4A2
chr13
110305812
110513209
+
CORO2B
chr15
68578993
68727806
+
DHX33
chr17
5440917
5468982
-
DNAJC9
chr10
73183362
73247255
-
E2F6
chr2
11444375
11466177
-
FHL2
chr2
105357712
105438513
-
GLCCI1
chr7
7968796
8094272
+
LY6E
chr8
143017982
143023832
+
MAP3K14
chr17
45263119
45317029
-
MAP3K2
chr2
127298730
127388465
-
MAP3K20
chr2
173075435
173268015
+
MBNL1
chr3
152243828
152465780
+
MPZL1
chr1
167721192
167791919
+
PCGF3
chr4
705748
770640
+
PGK1
chrX
77910739
78129295
+
PTPRJ
chr11
47980558
48170841
+
RAB8A
chr19
16111889
16134234
+
SAMD4B
chr19
39342396
39385710
+
SORBS3
chr8
22544986
22575788
+
TCF3
chr19
1609290
1652615
-
TMEM127
chr2
96248516
96265994
-
USP37
chr2
218450251
218568351
-
ZIC1
chr3
147393422
147510293
+
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001349
chr3
152132729
152150709
+
hsa_circ_0001605
chr6
42903447
42905047
+
hsa_circ_0001146
chr20
34241449
34246936
-
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC016876.2
chr17
7581964
7584086
-
AC135048.1
chr16
30948386
30956511
+
DSCAM-AS1
chr21
40383083
40385358
+
KCNQ1OT1
chr11
2608328
2699994
-
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