Entry Detail



General Information

Database ID:exR0190416
RNA Name:hsa-miR-485-5p
RNA Type:miRNA
Chromosome:chr14
Starnd:+
Coordinate:
Start Site(bp):101055427End Site(bp):101055448
External Links:hsa-miR-485-5p



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
ZDHHC18
chr1
26826688
26857604
+
ZNF106
chr15
42412823
42491141
-
IFI6
chr1
27666064
27672198
-
FAM102A
chr9
127940582
127980989
-
SUMF2
chr7
56064002
56080670
+
TAOK1
chr17
29390464
29551904
+
MAP7D1
chr1
36155579
36180849
+
PSKH1
chr16
67893254
67929676
+
TSPAN4
chr11
842812
867116
+
GOLGA3
chr12
132768914
132829078
-
RAB35
chr12
120095099
120117502
-
MPDU1
chr17
7583529
7592789
+
THY1
chr11
119417378
119424985
-
TSR2
chrX
54440404
54448032
+
AP1M1
chr19
16197578
16245907
+
ARRDC1
chr9
137605685
137615360
+
COQ9
chr16
57447425
57461270
+
RMI2
chr16
11249619
11381662
+
MEPCE
chr7
100428790
100434118
+
GBF1
chr10
102245532
102382899
+
KRT80
chr12
52168996
52192014
-
CAPZB
chr1
19338775
19485539
-
GRHL2
chr8
101492439
101669726
+
RHOB
chr2
20447074
20449440
+
INO80
chr15
40978880
41116280
-
ABAT
chr16
8674596
8784575
+
B4GALT5
chr20
49632945
49713878
-
RCC2
chr1
17406760
17439677
-
AKT2
chr19
40230317
40285536
-
SMAD7
chr18
48919853
48952052
-
miRNA targets:NA
circRNA targets:
circRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa_circ_0001454
chr4
154524454
154533552
+
hsa_circ_0000417
chr12
69644908
69656342
+
hsa_circ_0000798
chr17
65941524
65944422
+
hsa_circ_0000552
chr14
71880664
71948928
+
hsa_circ_0001146
chr20
34241449
34246936
-
hsa_circ_0000799
chr17
65941524
65972074
+
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005899.4
chr17
32328441
32329395
+
AC016065.1
chr8
6403551
6407142
-
AC016355.1
chr15
67541072
67542604
-
AC016876.2
chr17
7581964
7584086
-
AC026362.1
chr12
122975320
122982907
+
AC069281.2
chr7
100572232
100578700
-
AC074117.1
chr2
27356246
27367622
+
AC118758.3
chr7
56809214
56848800
-
AL022311.1
chr22
37876148
37895563
+
AL132655.2
chr20
58817132
58817725
-
AP000662.1
chr11
57638024
57652790
+
COL4A2-AS2
chr13
110456396
110463287
-
GAS5
chr1
173858559
173868882
-
LINC00265
chr7
39733430
39793092
+
LINC01278
chrX
63222993
63561095
-
LINC01772
chr1
16460948
16468481
+
MALAT1
chr11
65497688
65506516
+
MIR29B2CHG
chr1
207801518
207879115
-
NEAT1
chr11
65422774
65445540
+
NUTM2A-AS1
chr10
87201647
87342612
-
SNHG16
chr17
76557764
76565348
+
SNHG3
chr1
28505980
28510892
+
XIST
chrX
73820649
73852723
-
ZFHX2-AS1
chr14
23511760
23560778
+
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