Entry Detail



General Information

Database ID:exR0000126
RNA Name:ACBD3
RNA Type:mRNA
Chromosome:chr1
Starnd:-
Coordinate:
Start Site(bp):226144679End Site(bp):226186741
External Links:ENSG00000182827



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
MTRNR2L12
chr3
96617188
96618236
-
SLC16A2
chrX
74421493
74533917
+
RPS24
chr10
78033760
78056813
+
NUSAP1
chr15
41320794
41381050
+
LRWD1
chr7
102464956
102473168
+
S1PR4
chr19
3172346
3180332
+
RSU1
chr10
16590611
16817463
-
RPL15
chr3
23916545
23924374
+
FOCAD
chr9
20658309
20995955
+
GPR176
chr15
39799008
39920266
-
RAPGEF1
chr9
131576770
131740074
-
UTP18
chr17
51260546
51297936
+
LIMCH1
chr4
41359607
41700044
+
ZNF224
chr19
44094339
44109886
+
TTC39C
chr18
23992773
24135610
+
IGFBP5
chr2
216672105
216695549
-
YTHDF1
chr20
63195429
63216139
-
RGS10
chr10
119499817
119542719
-
CFL1
chr11
65823022
65862026
-
TPT1
chr13
45333471
45341370
-
RASGRP2
chr11
64726911
64745456
-
ACLY
chr17
41866917
41930542
-
UQCRQ
chr5
132866630
132868847
+
ID4
chr6
19837370
19842197
+
CSNK1E
chr22
38290691
38318084
-
PUM1
chr1
30931506
31065991
-
ZBTB33
chrX
120250752
120258398
+
TSN
chr2
121737103
121767853
+
HK1
chr10
69269984
69401884
+
DNPEP
chr2
219373527
219400022
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC009404.1
chr2
117833937
117841658
+
AC023908.2
chr15
39770559
39801333
-
AL022311.1
chr22
37876148
37895563
+
AL513314.2
chr1
222477252
222504622
-
MIR663AHG
chr20
26167817
26251546
-
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.