Entry Detail



General Information

Database ID:exR0005009
RNA Name:FBL
RNA Type:mRNA
Chromosome:chr19
Starnd:-
Coordinate:
Start Site(bp):39834458End Site(bp):39846379
External Links:ENSG00000105202



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
ABCC8
chr11
17392498
17476879
-
ABHD12
chr20
25294742
25390835
-
AC006064.6
chr12
6556886
6607367
-
AC008878.2
chr19
7533595
7540059
+
AC010323.1
chr19
8308283
8321379
-
AC010422.3
chr19
12643831
12648397
-
AC092143.1
chr16
89919165
89936092
+
AC116366.3
chr5
132410832
132646079
+
AC138811.2
chr16
18788063
18801519
-
AC245033.1
chr15
82536788
82573194
-
ACADVL
chr17
7217125
7225266
+
ACLY
chr17
41866917
41930542
-
ACSL1
chr4
184755595
184826818
-
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACVR1B
chr12
51951699
51997078
+
AEN
chr15
88621337
88632281
+
AGAP2
chr12
57723761
57742157
-
AKIRIN2
chr6
87674860
87702233
-
AKR1A1
chr1
45550543
45570049
+
AL160269.1
chr9
96235331
96352058
-
ALDH18A1
chr10
95605941
95656711
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC067930.1
chr8
143579636
143580670
+
AC245014.3
chr1
145281116
145281462
+
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.