Entry Detail



General Information

Database ID:exR0000343
RNA Name:AEN
RNA Type:mRNA
Chromosome:chr15
Starnd:+
Coordinate:
Start Site(bp):88621337End Site(bp):88632281
External Links:ENSG00000181026



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
HSP90AA1
chr14
102080738
102139699
-
PTEN
chr10
87863625
87971930
+
MAPK9
chr5
180233143
180292099
-
PABPC1
chr8
100685816
100722809
-
ITM2C
chr2
230864639
230879248
+
KAT7
chr17
49788681
49835026
+
HCCS
chrX
11111301
11123086
+
MESD
chr15
80946289
80989828
-
PPP1CB
chr2
28751640
28802940
+
PEBP1
chr12
118136124
118145584
+
STARD7
chr2
96184859
96208825
-
YBX1
chr1
42682418
42703805
+
MYL6
chr12
56158161
56163496
+
STRN4
chr19
46719511
46746994
-
AC006538.2
chr19
2717769
2740048
-
APH1A
chr1
150265399
150269580
-
JUNB
chr19
12791486
12793315
+
TSR2
chrX
54440404
54448032
+
PLK1
chr16
23677656
23690367
+
MATK
chr19
3777970
3802129
-
CSDE1
chr1
114716913
114758676
-
FKBP8
chr19
18531751
18544077
-
TOR1A
chr9
129812942
129824244
-
R3HDM2
chr12
57253762
57431005
-
GBE1
chr3
81489703
81761645
-
IVD
chr15
40405485
40435947
+
GPBP1
chr5
57173948
57264679
+
ZNF202
chr11
123723914
123741675
-
HSPA4
chr5
133052013
133106449
+
MDK
chr11
46380756
46383837
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-24-3p
chr9
95086064
95086085
+
hsa-miR-27a-3p
chr19
13836447
13836467
-
hsa-miR-101-3p
chr1
65058442
65058462
-
hsa-miR-27b-3p
chr9
95085505
95085525
+
hsa-miR-513a-5p
chrX
147213538
147213555
-
hsa-miR-455-5p
chr9
114209449
114209470
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007952.4
chr17
19112000
19112636
-
AC093827.4
chr4
86924630
86936202
-
AD000090.1
chr19
35557956
35581954
+
CCDC183-AS1
chr9
136803927
136808848
-
LNCPRESS1
chr7
101299578
101301346
+
NEAT1
chr11
65422774
65445540
+
SNHG3
chr1
28505980
28510892
+
XIST
chrX
73820649
73852723
-
ZFAS1
chr20
49278178
49299600
+
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.