Entry Detail



General Information

Database ID:exR0000223
RNA Name:ADA
RNA Type:mRNA
Chromosome:chr20
Starnd:-
Coordinate:
Start Site(bp):44619522End Site(bp):44652233
External Links:ENSG00000196839



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
S100A11
chr1
152032506
152047907
-
ELOVL5
chr6
53267398
53349179
-
SSR4
chrX
153793516
153798499
+
HSP90AB1
chr6
44246166
44253888
+
WASHC3
chr12
102012840
102062149
-
RAB14
chr9
121178133
121223014
-
LAT2
chr7
74199652
74229834
+
EEF1A1
chr6
73515750
73523797
-
CDKN1A
chr6
36676460
36687339
+
ZNF703
chr8
37695782
37700019
+
NACA
chr12
56712427
56731628
-
SEC62
chr3
169966635
169998373
+
HLA-C
chr6
31268749
31272130
-
SRSF4
chr1
29147743
29181900
-
URB1
chr21
32311018
32393012
-
GYPC
chr2
126656133
126696667
+
PEX5
chr12
7188685
7218574
+
AGAP3
chr7
151085831
151144436
+
XRCC5
chr2
216107464
216206303
+
DVL2
chr17
7225342
7234517
-
RPS19
chr19
41860255
41872925
+
EVL
chr14
99971449
100144236
+
MRPL38
chr17
75898643
75905413
-
RPL27A
chr11
8682788
8714759
+
RALY
chr20
33993646
34108308
+
TUBA1B
chr12
49127782
49131397
-
NPC2
chr14
74476192
74494177
-
CD81
chr11
2376177
2397419
+
DRAP1
chr11
65919274
65921563
+
SORD
chr15
45023181
45077185
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AL359924.1
chr1
237862175
237928321
+
LINC00996
chr7
150433654
150448140
+
SNHG1
chr11
62851984
62855953
-
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.