Entry Detail



General Information

Database ID:exR0004320
RNA Name:EEF1G
RNA Type:mRNA
Chromosome:chr11
Starnd:-
Coordinate:
Start Site(bp):62559596End Site(bp):62574086
External Links:ENSG00000254772



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
AL513165.2
chr9
37512547
37592469
-
AC120057.2
chr17
7240427
7244635
-
ABCB7
chrX
75051048
75156732
-
AHSA1
chr14
77457870
77469472
+
AC091167.2
chr15
90249556
90272208
+
ALDH4A1
chr1
18871430
18902724
-
AHNAK
chr11
62433542
62556235
-
AC104581.2
chr17
7925931
7930622
-
AKT1S1
chr19
49869033
49878459
-
AL139353.1
chr14
31334312
31457441
-
AC009690.1
chr15
72284727
72375981
-
AHCY
chr20
34280268
34311802
-
AL669918.1
chr6
32813767
32838822
-
ACD
chr16
67657512
67660815
-
ACTN1
chr14
68874143
68979440
-
AC008763.3
chr19
7678501
7682854
+
ACTB
chr7
5527148
5563784
-
AC007192.1
chr19
18153158
18178117
+
ADNP
chr20
50888916
50931437
-
ACAD8
chr11
134253495
134265855
+
AAR2
chr20
36236459
36270918
+
ADH5
chr4
99070978
99088801
-
AC012254.2
chr18
47108188
47176345
-
AC087289.3
chr17
75898645
75930129
-
AC004997.1
chr22
30285238
30299482
-
AC091167.6
chr15
90266317
90314499
+
ABCF1
chr6
30571393
30597179
+
ADSL
chr22
40346500
40390463
+
AIP
chr11
67483026
67491103
+
AATF
chr17
36948954
37056871
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-1244
chr2
231713368
231713393
+
hsa-miR-3648
chr21
8987026
8987046
+
hsa-miR-3654
chr7
133034860
133034878
-
hsa-miR-6747-3p
chr11
62567011
62567031
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004224.2
chr16
3458071
3515564
+
AC004687.1
chr17
58330884
58332508
-
AC007952.4
chr17
19112000
19112636
-
AC008124.1
chr12
45718046
45727775
-
AC010327.5
chr19
55216660
55221616
+
AC011461.1
chr19
10490339
10491000
-
AC012236.1
chr15
31221999
31230838
-
AC015917.2
chr17
28405240
28406796
+
AC016876.2
chr17
7581964
7584086
-
AC020663.1
chr16
4730115
4752565
-
AC021078.1
chr5
149494314
149504670
-
AC022167.2
chr16
8848105
8860456
+
AC091564.7
chr11
6610883
6616594
-
AC107884.1
chr11
7418826
7513644
-
AC107959.1
chr8
22984596
23019335
-
AC113189.2
chr17
7420103
7444081
+
AC113189.4
chr17
7439506
7445966
+
AC132217.1
chr11
2129121
2129964
-
AC139149.1
chr17
81514047
81527776
+
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
AL035458.2
chr20
34234840
34281173
-
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.