Entry Detail



General Information

Database ID:exR0080613
RNA Name:RPL5
RNA Type:mRNA
Chromosome:chr1
Starnd:+
Coordinate:
Start Site(bp):92832013End Site(bp):92841924
External Links:ENSG00000122406



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
ABCB4
chr7
87401697
87480435
-
AC004922.1
chr7
99325879
99394653
+
AGTPBP1
chr9
85546539
85742029
-
ACO1
chr9
32384603
32454769
+
AL136454.1
chr1
192716132
192716653
+
ALDH18A1
chr10
95605941
95656711
-
ACTR3
chr2
113890063
113962596
+
ADSL
chr22
40346500
40390463
+
AC073896.1
chr12
56285916
56316059
-
AC015802.6
chr17
76563710
76570544
-
AC091167.2
chr15
90249556
90272208
+
AGK
chr7
141551278
141655244
+
ACIN1
chr14
23058564
23095614
-
AGO1
chr1
35869808
35930532
+
AASS
chr7
122073549
122144255
-
ABL1
chr9
130713016
130887675
+
AL022238.4
chr22
40346529
40410054
+
AL365273.2
chr10
95860548
95924844
+
ACP6
chr1
147629652
147670524
-
ACVR1B
chr12
51951699
51997078
+
ALDOA
chr16
30064164
30070457
+
ACTR2
chr2
65227753
65271253
+
AGA
chr4
177430774
177442437
-
AK2
chr1
33007940
33080996
-
AEN
chr15
88621337
88632281
+
ADNP2
chr18
80109262
80147523
+
AC073612.1
chr12
71674204
71698968
+
AL121594.1
chr14
35122549
35317474
+
ACTB
chr7
5527148
5563784
-
AGRN
chr1
1020120
1056118
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-3654
chr7
133034860
133034878
-
hsa-miR-4426
chr1
192716333
192716349
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC010163.1
chr10
78293842
78301003
+
AC018521.1
chr17
47945424
47981736
+
AC022167.2
chr16
8848105
8860456
+
AC024940.6
chr12
31280422
31280895
-
AC104461.1
chr1
200333193
200478669
+
AC132217.1
chr11
2129121
2129964
-
AC139149.1
chr17
81514047
81527776
+
AD000090.1
chr19
35557956
35581954
+
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