Entry Detail



General Information

Database ID:exR0004316
RNA Name:EEF1B2
RNA Type:mRNA
Chromosome:chr2
Starnd:+
Coordinate:
Start Site(bp):206159585End Site(bp):206162928
External Links:ENSG00000114942



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
ABHD8
chr19
17292131
17310236
-
ABI2
chr2
203328239
203447728
+
AC005258.1
chr19
2269525
2341172
+
AC006978.2
chr7
30362400
30412502
+
AC007192.1
chr19
18153158
18178117
+
AC008763.3
chr19
7678501
7682854
+
AC009133.6
chr16
29812261
29820092
+
AC099811.2
chr17
42119674
42154916
-
AC118553.2
chr1
99970011
100083321
+
AC139530.2
chr17
81703371
81720539
+
ACAP3
chr1
1292390
1309609
-
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACTG2
chr2
73892314
73919865
+
ACTN4
chr19
38647649
38731589
+
ACTR1A
chr10
102461881
102502712
-
ACTR2
chr2
65227753
65271253
+
ACTR3
chr2
113890063
113962596
+
ADAM8
chr10
133262420
133276868
-
ADSL
chr22
40346500
40390463
+
AHDC1
chr1
27534035
27604431
-
AHSA1
chr14
77457870
77469472
+
AIMP1
chr4
106315544
106349456
+
AK2
chr1
33007940
33080996
-
AL049629.2
chr11
33698261
33722467
-
ALDH4A1
chr1
18871430
18902724
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-21-5p
chr17
59841273
59841294
+
hsa-miR-6892-5p
chr7
143382686
143382706
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004477.1
chr17
48045141
48048073
-
AC007952.4
chr17
19112000
19112636
-
AC017100.1
chr18
31685655
31686823
+
AC105339.2
chr15
82752884
82757208
+
AL022311.1
chr22
37876148
37895563
+
AL132655.2
chr20
58817132
58817725
-
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.