Entry Detail



General Information

Database ID:exR0000466
RNA Name:AKT1
RNA Type:mRNA
Chromosome:chr14
Starnd:-
Coordinate:
Start Site(bp):104769349End Site(bp):104795751
External Links:ENSG00000142208



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
PPM1B
chr2
44167969
44244384
+
KEAP1
chr19
10486125
10503558
-
AC010422.3
chr19
12643831
12648397
-
FKBP1A
chr20
1368978
1393172
-
ACACA
chr17
37084992
37406836
-
TUFM
chr16
28842411
28846348
-
SCFD2
chr4
52872982
53366066
-
P4HB
chr17
81843161
81860624
-
CRELD1
chr3
9933816
9945406
+
SIGIRR
chr11
405716
417455
-
KDM4B
chr19
4969113
5153598
+
TMEM106C
chr12
47963569
47968878
+
FAT1
chr4
186587794
186726722
-
POU5F1
chr6
31164337
31180731
-
INTS5
chr11
62646848
62653302
-
ZC3H14
chr14
88562970
88627596
+
TPI1
chr12
6867119
6870948
+
CA14
chr1
150257251
150265078
+
KDELR3
chr22
38468078
38483447
+
DLG3
chrX
70444835
70505490
+
FBRSL1
chr12
132489551
132585188
+
MOV10
chr1
112673141
112700746
+
ENAH
chr1
225486835
225653142
-
EEF1A1
chr6
73515750
73523797
-
RARRES2
chr7
150338317
150341662
-
MVD
chr16
88651935
88663161
-
TUBB
chr6
30720352
30725426
+
HNRNPL
chr19
38836388
38852347
-
HPCAL1
chr2
10302889
10427617
+
PPA1
chr10
70202835
70233911
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004816.1
chr14
70809841
70815994
+
AC012313.3
chr19
58346854
58362751
-
AC067930.1
chr8
143579636
143580670
+
GSEC
chr11
126340889
126355587
-
MIR663AHG
chr20
26167817
26251546
-
PDCD4-AS1
chr10
110869868
110872233
-
XIST
chrX
73820649
73852723
-
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.