Entry Detail



General Information

Database ID:exR0080575
RNA Name:RPL13A
RNA Type:mRNA
Chromosome:chr19
Starnd:+
Coordinate:
Start Site(bp):49487554End Site(bp):49492308
External Links:ENSG00000142541



Disease Information

Disease Name:Fragile X Syndrome
Disease Category:Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH ID:D005600
Type:Diseases Category/Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Alias:Fragile X Syndromes//Syndrome, Fragile X//Syndromes, Fragile X//Marker X Syndrome//Marker X Syndromes//Syndrome, Marker X//Syndromes, Marker X//Mental Retardation, X-Linked, Associated With Marxq28//X-Linked Mental Retardation and Macroorchidism//X Linked Mental Retardation and Macroorchidism//Fragile X Mental Retardation Syndrome//Martin-Bell Syndrome//Martin Bell Syndrome//Syndrome, Martin-Bell//Fra(X) Syndrome//FRAXE Syndrome//FRAXE Syndromes//Syndrome, FRAXE//Syndromes, FRAXE//Mental Retardation, X-Linked, Associated With Fragile Site Fraxe//Fragile X-F Mental Retardation Syndrome//Mar (X) Syndrome//FRAXA Syndrome//FRAXA Syndromes//Syndrome, FRAXA//Syndromes, FRAXA



Expression Detail

GEO ID:GSE83556
Description:Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions
Experimental Design:Disease vs Control
Case Disease Type:Fragile X Syndrome
Case Disease SubType:NA
Case Sample:Fragile X Syndrome
Control Sample:Normal
Number of Case:22
Number of Control:18
Number of Samples:40





Regulatory Relationship

mRNA targets:
Gene SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC068580.4
chr11
1734821
1763954
-
AGAP3
chr7
151085831
151144436
+
ABHD17B
chr9
71862452
71910931
-
AC120057.2
chr17
7240427
7244635
-
ADAM28
chr8
24294069
24359014
+
AC124312.1
chr15
24955034
25000276
+
AKT2
chr19
40230317
40285536
-
ADD3
chr10
109996368
110135565
+
ABL2
chr1
179099330
179229684
-
ACTB
chr7
5527148
5563784
-
AHCY
chr20
34280268
34311802
-
AGBL5
chr2
27042364
27070622
+
AC092143.1
chr16
89919165
89936092
+
AKR7A2
chr1
19303965
19312146
-
AC010422.3
chr19
12643831
12648397
-
AL049779.1
chr14
67659820
67690367
-
AFG3L2
chr18
12328944
12377227
-
AC015813.2
chr17
57989038
58007246
-
AIF1L
chr9
131096476
131123152
+
ACBD5
chr10
27195214
27242130
-
AC004922.1
chr7
99325879
99394653
+
AKT3
chr1
243488233
243851079
-
AC005258.1
chr19
2269525
2341172
+
AKAP8L
chr19
15380050
15419141
-
ALDOA
chr16
30064164
30070457
+
AJUBA
chr14
22971177
22982551
-
ACTR3
chr2
113890063
113962596
+
ADPGK
chr15
72751369
72785846
-
AL049629.2
chr11
33698261
33722467
-
ACKR3
chr2
236567787
236582354
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-92a-3p
chrX
134169544
134169565
-
hsa-miR-3654
chr7
133034860
133034878
-
hsa-miR-7704
chr2
176188843
176188861
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004918.1
chr7
141652381
141656810
-
AC007773.1
chr19
32390050
32405560
-
AC007952.4
chr17
19112000
19112636
-
AC009022.1
chr16
69976297
70065948
-
AC010168.2
chr12
14762504
14767931
-
AC011447.3
chr19
20122569
20321305
-
AC020663.1
chr16
4730115
4752565
-
AC021078.1
chr5
149494314
149504670
-
AC023509.1
chr12
53441741
53467528
+
AC051619.7
chr15
45200325
45200632
-
AC067852.2
chr17
42552436
42554748
-
AC068473.5
chr18
79677287
79679358
-
AC104461.1
chr1
200333193
200478669
+
AC105036.3
chr15
75527150
75601205
-
AC132217.1
chr11
2129121
2129964
-
AC139149.1
chr17
81514047
81527776
+
AC245014.3
chr1
145281116
145281462
+
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
Display:



Experiment Detail

GEO ID:GSE83556
Sample Source:Amniotic Fluid
Source Fraction:Supernatant
Platform:GPL570
Method:Microarray
Num of detected RNA Type:1
Num of detected RNAs of this Type:17063
Sample treatment protocol:RNA was extracted from 5-15 mL amniotic fluid supernatant (centrifugation at 350g, 4C, 10, min).
RNA Extract protocol:All samples were processed using the Qiagen Circulating Nucleic Acid kit with an on-column DNase digestion step to remove genomic DNA. The RNA was then purified and concentrated with the RNeasy MinElute Clean up kit and eluted in RNasefree water.
RNA library preparation protocol:RNA was converted to cDNA and amplified using the Ovation Pico WTA kit V2 and then purified with the QIAquick PCR Purification kit. Samples were labeled using the Encore Biotin Module (NuGEN, San Carlos, CA)Samples were labeled using the Encore Biotin Module (NuGEN, San Carlos, CA).



Reference

PMID:NA
Title:NA
Author:NA
Journal:NA
Description:NA