Entry Detail



General Information

Database ID:exR0001520
RNA Name:BSG
RNA Type:mRNA
Chromosome:chr19
Starnd:+
Coordinate:
Start Site(bp):571277End Site(bp):583493
External Links:ENSG00000172270



Disease Information

Disease Name:Down Syndrome
Disease Category:Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH ID:D004314
Type:Diseases Category/Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Alias:Syndrome, Down//Mongolism//47,XY,+21//Trisomy G//47,XX,+21//Down's Syndrome//Downs Syndrome//Syndrome, Down's//Trisomy 21//Trisomy 21, Mitotic Nondisjunction//Down Syndrome, Partial Trisomy 21//Partial Trisomy 21 Down Syndrome//Trisomy 21, Meiotic Nondisjunction



Expression Detail

GEO ID:GSE16176
Description:Expression profiles of amniotic fluid from human fetuses with Down syndrome and euploid controls
Experimental Design:Disease vs Control
Case Disease Type:Down Syndrome
Case Disease SubType:NA
Case Sample:Down Syndrome
Control Sample:Normal
Number of Case:7
Number of Control:7
Number of Samples:14





Regulatory Relationship

mRNA targets:
Gene SymbolChromosomeStart Site(bp)End Site(bp)Strand
ABCC1
chr16
15949577
16143074
+
ABCC5
chr3
183919934
184017939
-
ABCF1
chr6
30571393
30597179
+
AC005258.1
chr19
2269525
2341172
+
AC010422.3
chr19
12643831
12648397
-
AC011005.1
chr7
129126518
129130793
+
AC012531.3
chr12
53985845
54034888
+
AC058822.1
chr4
53377839
54295272
+
AC104109.3
chr5
134167170
134226071
-
AC245033.1
chr15
82536788
82573194
-
ACBD4
chr17
45132600
45144181
+
ACO2
chr22
41469117
41528989
+
ACTB
chr7
5527148
5563784
-
ACVR2B
chr3
38453890
38493142
+
ADH5
chr4
99070978
99088801
-
ADPRHL2
chr1
36088892
36093932
+
ADRA1D
chr20
4220630
4249287
-
AGAP3
chr7
151085831
151144436
+
AGAP4
chr10
45825594
45853875
-
AGFG1
chr2
227472152
227561214
+
AGPAT4
chr6
161129967
161274061
-
AHCY
chr20
34280268
34311802
-
AHNAK
chr11
62433542
62556235
-
AKAP17A
chrX
1591604
1602520
+
AKT1
chr14
104769349
104795751
-
AL133352.1
chr10
100505628
100529881
-
AL139353.1
chr14
31334312
31457441
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-664b-5p
chrX
154768596
154768619
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007161.3
chr7
7640752
8004053
+
AC007952.4
chr17
19112000
19112636
-
AC012531.2
chr12
54017110
54035361
+
AC124068.2
chr15
89335053
89336161
+
AC245033.4
chr15
82533175
82540008
-
AD000090.1
chr19
35557956
35581954
+
AL035458.2
chr20
34234840
34281173
-
Display:



Experiment Detail

GEO ID:GSE16176
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:NA
RNA Extract protocol:RNA was extracted from 10 mL AF with 30 mL TRIzol LS Reagent (Invitrogen, Carlsbad, CA) and 8 mL chloroform. After RNA extraction, RNA was purified and DNA was removed using the RNeasy® Maxi Kit, including the DNase step according to the manufacturer's protocol (QIAGEN, Valencia, CA). RNA was precipitated using 3M NaOAc and 100% ethanol, and 80% ethanol was added after 4 hours incubation at -20 °C. cDNA, synthesized from extracted RNA, was amplified and purified using the WT-Ovation™ Pico RNA Amplification System (NuGEN, San Carlos, CA) and the DNA Clean & Concentrator™-25 (Zymo Research, Orange, CA).
RNA library preparation protocol:biotin Samples were labeled using the FL-Ovation™ cDNA Biotin Module V2 (NuGEN, San Carlos, CA).



Reference

PMID:19474297
Title:Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses
Author:Slonim DK, Koide K, Johnson KL, Tantravahi U, Cowan JM, Jarrah Z, Bianchi DW
Journal:Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9425-9.
Description:To characterize the differences between second trimester Down syndrome (DS) and euploid fetuses, we used Affymetrix microarrays to compare gene expression in uncultured amniotic fluid supernatant samples.