Entry Detail



General Information

Database ID:exR0083902
RNA Name:U2AF1
RNA Type:mRNA
Chromosome:chr21
Starnd:-
Coordinate:
Start Site(bp):43092956End Site(bp):43107587
External Links:ENSG00000160201



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
ABHD13
chr13
108218392
108234243
+
ABLIM1
chr10
114431113
114768061
-
AC007192.1
chr19
18153158
18178117
+
ACO2
chr22
41469117
41528989
+
ADAP2
chr17
30906344
30959322
+
ADI1
chr2
3497366
3519531
-
AHCY
chr20
34280268
34311802
-
AIMP2
chr7
6009255
6023834
+
AKAP9
chr7
91940867
92110673
+
AL928654.3
chr14
105487199
105492267
+
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-1181
chr19
10403505
10403525
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC010655.2
chr7
128455937
128469197
+
AC010655.4
chr7
128455840
128493859
+
AC016876.2
chr17
7581964
7584086
-
AC026362.1
chr12
122975320
122982907
+
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