Entry Detail



General Information

Database ID:exR0000017
RNA Name:AAR2
RNA Type:mRNA
Chromosome:chr20
Starnd:+
Coordinate:
Start Site(bp):36236459End Site(bp):36270918
External Links:ENSG00000131043



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
MCM3AP
chr21
46235133
46286297
-
PLCB2
chr15
40278176
40307935
-
MANBAL
chr20
37289638
37317260
+
LDHA
chr11
18394560
18408425
+
DHX15
chr4
24517441
24584554
-
YWHAH
chr22
31944522
31957603
+
M6PR
chr12
8940361
8949761
-
LSS
chr21
46188141
46228824
-
MTHFR
chr1
11785723
11806455
-
EGLN2
chr19
40798996
40808434
+
COX6B1
chr19
35648323
35658782
+
PKP2
chr12
32790745
32896840
-
TEN1-CDK3
chr17
75979231
76005999
+
TMEM47
chrX
34627075
34657285
-
HMOX2
chr16
4474690
4510347
+
BRF1
chr14
105209286
105315589
-
CCDC77
chr12
389273
442642
+
DDX17
chr22
38483438
38507660
-
NELFE
chr6
31952087
31959038
-
PAGR1
chr16
29816152
29822489
+
LMTK2
chr7
98106862
98209638
+
RAB4B-EGLN2
chr19
40778242
40808418
+
HNRNPH3
chr10
68331174
68343191
+
ACTR1A
chr10
102461881
102502712
-
CANX
chr5
179678628
179731641
+
MCM7
chr7
100092728
100101940
-
RPL3
chr22
39312882
39320389
-
FLII
chr17
18244815
18258738
-
TUBA1A
chr12
49184795
49189080
-
PAICS
chr4
56435741
56464579
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-103a-3p
chr5
168560904
168560926
-
hsa-miR-147a
chr9
120244985
120245004
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
EBLN3P
chr9
37079645
37090928
+
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.