Entry Detail



General Information

Database ID:exR0000103
RNA Name:ABRACL
RNA Type:mRNA
Chromosome:chr6
Starnd:+
Coordinate:
Start Site(bp):139028745End Site(bp):139043302
External Links:ENSG00000146386



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
FGFBP3
chr10
91906584
91909486
-
RPL11
chr1
23691742
23696835
+
STIL
chr1
47250139
47314147
-
BIRC6
chr2
32357028
32618899
+
EIF4A1
chr17
7572706
7579006
+
REPIN1
chr7
150368189
150374044
+
UBE2I
chr16
1308880
1327018
+
UTP18
chr17
51260546
51297936
+
EZR
chr6
158765741
158819368
-
RPS5
chr19
58386400
58394806
+
NUCKS1
chr1
205712822
205750182
-
APLP2
chr11
130068147
130144811
+
POMT1
chr9
131502902
131523806
+
DCLRE1B
chr1
113905213
113914086
+
MIF
chr22
23894383
23895227
+
CALR
chr19
12938578
12944489
+
XPO7
chr8
21919662
22006585
+
GOT1
chr10
99396870
99430624
-
TUBB
chr6
30720352
30725426
+
MEX3A
chr1
156072013
156082465
-
PXMP2
chr12
132687587
132704985
+
BABAM1
chr19
17267376
17281249
+
HSPB8
chr12
119178642
119221131
+
PER1
chr17
8140472
8156506
-
DHX32
chr10
125836337
125896436
-
APP
chr21
25880550
26171128
-
SLC38A2
chr12
46358188
46372773
-
NEDD9
chr6
11183298
11382348
-
S100A16
chr1
153606886
153613145
-
SENP3-EIF4A1
chr17
7563287
7578715
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-205-5p
chr1
209432166
209432187
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC016876.2
chr17
7581964
7584086
-
AL035458.2
chr20
34234840
34281173
-
AC135586.2
chr12
132688049
132714912
+
AL359924.1
chr1
237862175
237928321
+
AP006621.3
chr11
777578
784297
+
MAPKAPK5-AS1
chr12
111839764
111842902
-
NEAT1
chr11
65422774
65445540
+
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.