Entry Detail



General Information

Database ID:exR0005005
RNA Name:FAU
RNA Type:mRNA
Chromosome:chr11
Starnd:-
Coordinate:
Start Site(bp):65120630End Site(bp):65122177
External Links:ENSG00000149806



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
ABCA2
chr9
137007234
137028922
-
ABCB9
chr12
122920951
122981649
-
ABHD12
chr20
25294742
25390835
-
AC007192.1
chr19
18153158
18178117
+
AC008982.1
chr19
38817471
38840178
-
AC010132.3
chr7
42909273
42932174
-
AC010422.3
chr19
12643831
12648397
-
AC114490.2
chr1
34981533
35031741
-
AC135050.2
chr16
31083439
31094956
-
ACAD9
chr3
128879596
128916067
+
ACAT2
chr6
159762045
159779112
+
ACIN1
chr14
23058564
23095614
-
ACSS1
chr20
25006230
25058980
-
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACTN1
chr14
68874143
68979440
-
ACTN4
chr19
38647649
38731589
+
ADH5
chr4
99070978
99088801
-
ADM
chr11
10305073
10307397
+
ADPRM
chr17
10697594
10711558
+
AGBL5
chr2
27042364
27070622
+
AHCY
chr20
34280268
34311802
-
AL031708.1
chr16
1632259
1686715
+
AL133352.1
chr10
100505628
100529881
-
AL138752.2
chr9
37588413
38068687
-
AL162377.3
chr13
51763951
51845159
-
ALDH18A1
chr10
95605941
95656711
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-4485-3p
chr11
10508277
10508296
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005899.4
chr17
32328441
32329395
+
AC009022.1
chr16
69976297
70065948
-
AC010642.2
chr19
58309727
58327248
-
AC139149.1
chr17
81514047
81527776
+
AD000090.1
chr19
35557956
35581954
+
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.