Entry Detail



General Information

Database ID:exR0000303
RNA Name:ADH5
RNA Type:mRNA
Chromosome:chr4
Starnd:-
Coordinate:
Start Site(bp):99070978End Site(bp):99088801
External Links:ENSG00000197894



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
GALNT2
chr1
230057990
230282122
+
CLPTM1
chr19
44954585
44993341
+
BUB1B
chr15
40161023
40221136
+
MAD1L1
chr7
1815793
2233243
-
PSAP
chr10
71816298
71851325
-
RSAD1
chr17
50478860
50485974
+
PTPN6
chr12
6946468
6961316
+
ACTR6
chr12
100199122
100241865
+
SRP68
chr17
76038775
76072517
-
CEBPZ
chr2
37201612
37231596
-
SEC61A1
chr3
128051641
128071683
+
TYRO3
chr15
41557675
41583589
+
RPS19
chr19
41860255
41872925
+
SMARCA4
chr19
10960825
11079426
+
ILF2
chr1
153661788
153671028
-
NUDCD3
chr7
44379119
44490658
-
SEC22A
chr3
123201927
123274136
+
RAN
chr12
130872037
130877678
+
OTX2
chr14
56799905
56816693
-
RPL15
chr3
23916545
23924374
+
SLX1A
chr16
30193887
30197561
+
C5orf30
chr5
103258763
103278660
+
TUBB
chr6
30720352
30725426
+
WDFY1
chr2
223855716
223945357
-
AL136454.1
chr1
192716132
192716653
+
VIM
chr10
17228241
17237593
+
TAF6
chr7
100107070
100119841
-
HMGA1
chr6
34236873
34246231
+
PABPC1
chr8
100685816
100722809
-
VCL
chr10
73995193
74121363
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-1825
chr20
32237830
32237847
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
C5orf17
chr5
23951348
24178263
+
OXCT1-AS1
chr5
41869927
41872241
+
SLX1A-SULT1A3
chr16
30193892
30204310
+
SNHG15
chr7
44983023
44986961
-
TUG1
chr22
30969245
30979395
+
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.