Entry Detail



General Information

Database ID:exR0000145
RNA Name:ACO2
RNA Type:mRNA
Chromosome:chr22
Starnd:+
Coordinate:
Start Site(bp):41469117End Site(bp):41528989
External Links:ENSG00000100412



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
RASA4
chr7
102573807
102616757
-
NOC2L
chr1
944203
959309
-
RPS17
chr15
82536750
82540459
-
LAMA1
chr18
6941742
7117797
-
DPYSL2
chr8
26514031
26658178
+
MTIF2
chr2
55236595
55269347
-
EDIL3
chr5
83940554
84384880
-
NAMPT
chr7
106248298
106286326
-
CDH1
chr16
68737292
68835541
+
AP002990.1
chr11
62559603
62591531
-
DDX19B
chr16
70289663
70335283
+
IFITM1
chr11
313506
315272
+
COMT
chr22
19941733
19969975
+
R3HDM2
chr12
57253762
57431005
-
HNRNPK
chr9
83968083
83980616
-
TMBIM6
chr12
49707725
49764934
+
TUBB
chr6
30720352
30725426
+
U2AF1L5
chr21
6484623
6499261
-
WDR74
chr11
62832342
62841809
-
IQCB1
chr3
121769761
121835079
-
KIF26A
chr14
104138723
104180894
+
CDCA2
chr8
25459199
25507911
+
RRP36
chr6
43021623
43034156
+
PTPRS
chr19
5158495
5340803
-
HDGFL3
chr15
83112738
83207823
-
DAP
chr5
10679230
10761272
-
CD52
chr1
26317958
26320523
+
PSMA2
chr7
42916861
42932185
-
COPG1
chr3
129249606
129277773
+
FRMPD4
chrX
11822423
12724523
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC079781.5
chr7
97851688
97972985
-
AC147651.4
chr7
603185
608482
+
AC245033.4
chr15
82533175
82540008
-
SNHG19
chr16
2154797
2155358
-
SNHG7
chr9
136721366
136728184
-
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.