Entry Detail



General Information

Database ID:exR0004314
RNA Name:EEF1A1
RNA Type:mRNA
Chromosome:chr6
Starnd:-
Coordinate:
Start Site(bp):73515750End Site(bp):73523797
External Links:ENSG00000156508



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
ADNP
chr20
50888916
50931437
-
AIF1L
chr9
131096476
131123152
+
AC008982.1
chr19
38817471
38840178
-
ADRM1
chr20
62302093
62308862
+
ALDH16A1
chr19
49453225
49471050
+
AGO2
chr8
140520156
140635633
-
ALDOA
chr16
30064164
30070457
+
ACIN1
chr14
23058564
23095614
-
ACAT1
chr11
108116695
108147603
+
ADA
chr20
44619522
44652233
-
AC073508.2
chr17
40627356
40665141
-
ABCF1
chr6
30571393
30597179
+
AKT2
chr19
40230317
40285536
-
ADORA2A
chr22
24417879
24442357
+
ACTB
chr7
5527148
5563784
-
ABRACL
chr6
139028745
139043302
+
AIDA
chr1
222668013
222713210
-
ACTR1A
chr10
102461881
102502712
-
ALDH9A1
chr1
165662216
165698863
-
ACTG1
chr17
81509971
81523847
-
AL035078.4
chr11
31812391
32104665
+
AC015813.2
chr17
57989038
58007246
-
ACACA
chr17
37084992
37406836
-
AC018523.2
chr11
14493783
14520344
-
ABHD2
chr15
89087459
89202355
+
ACAP1
chr17
7336529
7351477
+
AGL
chr1
99850361
99924023
+
AL121758.1
chr20
646626
675800
-
ACAA2
chr18
49782164
49813953
-
AC008763.3
chr19
7678501
7682854
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-21-5p
chr17
59841273
59841294
+
hsa-miR-142-3p
chr17
58331245
58331267
-
hsa-miR-155-5p
chr21
25573983
25574006
+
hsa-miR-3654
chr7
133034860
133034878
-
hsa-miR-6797-3p
chr19
41869675
41869696
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004687.1
chr17
58330884
58332508
-
AC004816.1
chr14
70809841
70815994
+
AC012236.1
chr15
31221999
31230838
-
AC015813.1
chr17
57989039
57994850
-
AC016876.2
chr17
7581964
7584086
-
AC019205.1
chr6
73263212
73301789
+
AC020663.1
chr16
4730115
4752565
-
AC023509.1
chr12
53441741
53467528
+
AC063949.2
chr12
92421531
92483680
+
AC092490.1
chr12
8788253
8795789
+
AC104461.1
chr1
200333193
200478669
+
AC132217.1
chr11
2129121
2129964
-
AC139149.1
chr17
81514047
81527776
+
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
AL031058.1
chr6
7540451
7541338
-
AL035458.2
chr20
34234840
34281173
-
AL080317.2
chr6
111309203
111313517
+
AL121985.1
chr1
160670778
160699761
+
AL132780.1
chr14
22929607
22956374
+
AL137026.2
chr10
44259602
44261813
-
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.