Entry Detail



General Information

Database ID:exR0004321
RNA Name:EEF2
RNA Type:mRNA
Chromosome:chr19
Starnd:-
Coordinate:
Start Site(bp):3976056End Site(bp):3985463
External Links:ENSG00000167658



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
AAMP
chr2
218264123
218270257
-
AHNAK
chr11
62433542
62556235
-
ACIN1
chr14
23058564
23095614
-
ALAS1
chr3
52198086
52214327
+
ABHD12
chr20
25294742
25390835
-
AL365205.1
chr6
41780349
41790141
+
AC073612.1
chr12
71674204
71698968
+
AKT2
chr19
40230317
40285536
-
AC010422.3
chr19
12643831
12648397
-
AC008763.2
chr19
7629796
7643048
+
AC092073.1
chr19
34396315
34409364
+
AASS
chr7
122073549
122144255
-
AKAP8L
chr19
15380050
15419141
-
AL021546.1
chr12
120438198
120460006
+
AC093525.2
chr16
2496032
2520218
+
ACO1
chr9
32384603
32454769
+
ACSS1
chr20
25006230
25058980
-
ACAP3
chr1
1292390
1309609
-
AC011448.1
chr19
19516227
19536076
+
ADAR
chr1
154582057
154628013
-
ABCF1
chr6
30571393
30597179
+
AC034102.2
chr12
56101331
56109289
+
ABCF2
chr7
151207837
151227166
-
AC008695.1
chr5
131425891
131796983
-
AKAP17A
chrX
1591604
1602520
+
ALDOA
chr16
30064164
30070457
+
ACTA2
chr10
88935074
88991339
-
ADRA2A
chr10
111077029
111080907
+
ACAP1
chr17
7336529
7351477
+
AL136454.1
chr1
192716132
192716653
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-20b-5p
chrX
134169850
134169872
-
hsa-miR-1291
chr12
48654494
48654517
-
hsa-miR-4426
chr1
192716333
192716349
+
hsa-miR-1307-5p
chr10
103394341
103394361
-
hsa-miR-6850-5p
chr8
144791970
144791991
-
hsa-miR-7111-3p
chr6
35470558
35470579
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AD000090.1
chr19
35557956
35581954
+
AC026471.1
chr16
31456711
31459736
-
AC026362.1
chr12
122975320
122982907
+
AC009403.2
chr7
155474256
155644406
-
AL022311.1
chr22
37876148
37895563
+
AC245014.3
chr1
145281116
145281462
+
AC004540.2
chr7
26369310
26376701
-
AC132217.1
chr11
2129121
2129964
-
AC005618.1
chr5
141326210
141329357
+
AC011445.1
chr19
39314651
39320858
-
AC091564.7
chr11
6610883
6616594
-
AC024940.6
chr12
31280422
31280895
-
AC067852.1
chr17
42536510
42562062
+
AC093019.2
chr1
100057990
100084471
-
AC016876.2
chr17
7581964
7584086
-
AL035458.2
chr20
34234840
34281173
-
AC022819.1
chr15
99157231
99161140
-
AC126365.1
chr17
20788071
20789584
+
AL137782.1
chr13
75549773
75807120
+
AC011498.6
chr19
4454014
4455286
+
AC010331.1
chr19
47607873
47608454
-
AC007066.2
chr9
122937623
122940333
+
AC009403.1
chr7
155611231
155645205
-
AL121992.1
chr1
15586136
15603626
-
AC139149.1
chr17
81514047
81527776
+
AC245033.4
chr15
82533175
82540008
-
AC109460.3
chr16
28974804
28990775
+
AC002116.1
chr19
36008638
36014235
-
AC092490.1
chr12
8788253
8795789
+
AC102953.2
chr7
1464497
1467522
-
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.