Entry Detail



General Information

Database ID:exR0004296
RNA Name:EDARADD
RNA Type:mRNA
Chromosome:chr1
Starnd:+
Coordinate:
Start Site(bp):236348257End Site(bp):236502915
External Links:ENSG00000186197



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
AL136454.1
chr1
192716132
192716653
+
AL020996.2
chr1
25811470
25823744
+
AL035078.4
chr11
31812391
32104665
+
ACTR2
chr2
65227753
65271253
+
AKIRIN2
chr6
87674860
87702233
-
ACO1
chr9
32384603
32454769
+
AC245033.1
chr15
82536788
82573194
-
ADGRE5
chr19
14380501
14408725
+
AL138752.2
chr9
37588413
38068687
-
AKAP11
chr13
42272152
42323261
+
AC124312.1
chr15
24955034
25000276
+
ACAD10
chr12
111686056
111757107
+
ALDH2
chr12
111766887
111817532
+
AC068946.1
chr2
219075329
219170827
-
AKAP8
chr19
15353385
15379798
-
AKR1A1
chr1
45550543
45570049
+
ACTR8
chr3
53867066
53882152
-
AC004832.3
chr22
30409255
30428990
+
ACTG1
chr17
81509971
81523847
-
ACLY
chr17
41866917
41930542
-
AC020909.1
chr19
50415799
50428409
+
AK2
chr1
33007940
33080996
-
ACAD9
chr3
128879596
128916067
+
ABRAXAS2
chr10
124801819
124836667
+
AKR1B1
chr7
134442356
134459284
-
ADGRL2
chr1
81306160
81992436
+
ADPRH
chr3
119579268
119589945
+
AL355315.1
chr10
97584374
97673910
+
AC011462.1
chr19
41350853
41425001
+
AC005832.4
chr12
4604944
4662643
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-21-5p
chr17
59841273
59841294
+
hsa-miR-4426
chr1
192716333
192716349
+
hsa-miR-6728-3p
chr1
8866502
8866522
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007952.4
chr17
19112000
19112636
-
AC010642.2
chr19
58309727
58327248
-
AC012236.1
chr15
31221999
31230838
-
AC016876.2
chr17
7581964
7584086
-
AC026362.1
chr12
122975320
122982907
+
AC125807.2
chr12
3041437
3044950
+
AC245014.3
chr1
145281116
145281462
+
AC245033.4
chr15
82533175
82540008
-
AL022311.1
chr22
37876148
37895563
+
AL096870.2
chr14
24209646
24215987
-
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.