Entry Detail



General Information

Database ID:exR0004317
RNA Name:EEF1D
RNA Type:mRNA
Chromosome:chr8
Starnd:-
Coordinate:
Start Site(bp):143579697End Site(bp):143599541
External Links:ENSG00000104529



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
-
ABCA2
chr9
137007234
137028922
-
ABCC5
chr3
183919934
184017939
-
ABHD10
chr3
111979010
111993368
+
AC012184.2
chr16
70299194
70372582
+
AC074143.1
chr16
67163385
67165815
+
AC090004.1
chr3
14135217
14148252
+
AC092143.1
chr16
89919165
89936092
+
AC092647.5
chr7
55887277
55955239
+
AC093525.2
chr16
2496032
2520218
+
AC244197.3
chrX
149477104
149540926
-
AC245033.1
chr15
82536788
82573194
-
ACLY
chr17
41866917
41930542
-
ACTA1
chr1
229431245
229434098
-
ACTB
chr7
5527148
5563784
-
ACTC1
chr15
34790230
34795549
-
ACTG1
chr17
81509971
81523847
-
ACTR3
chr2
113890063
113962596
+
ADGRE5
chr19
14380501
14408725
+
AFMID
chr17
78187317
78207701
+
AHCYL2
chr7
129225023
129430211
+
AL713999.1
chr1
155169409
155187272
-
ALDH9A1
chr1
165662216
165698863
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-4517
chr16
28958587
28958611
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC067930.1
chr8
143579636
143580670
+
AC069281.2
chr7
100572232
100578700
-
AC245033.4
chr15
82533175
82540008
-
AD000090.1
chr19
35557956
35581954
+
AL132780.1
chr14
22929607
22956374
+
AL133166.1
chr14
29210986
29392048
-
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.