Entry Detail



General Information

Database ID:exR0000116
RNA Name:ACADM
RNA Type:mRNA
Chromosome:chr1
Starnd:+
Coordinate:
Start Site(bp):75724347End Site(bp):75787575
External Links:ENSG00000117054



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
DBN1
chr5
177456608
177474401
-
HMGA1
chr6
34236873
34246231
+
ARID5A
chr2
96536743
96552634
+
RPN2
chr20
37178410
37241619
+
HACD3
chr15
65530418
65578349
+
ITGB3BP
chr1
63440770
63593721
-
HYOU1
chr11
119044188
119057227
-
SLC35G1
chr10
93893973
93956062
+
RBMXL1
chr1
88979456
88992960
-
DTX4
chr11
59171430
59208588
+
FOXN2
chr2
48314637
48379295
+
PNN
chr14
39175183
39183220
+
BUB1B
chr15
40161023
40221136
+
DDX39B
chr6
31530219
31542448
-
GDI2
chr10
5765223
5842132
-
FTL
chr19
48965309
48966879
+
PKM
chr15
72199029
72231822
-
SRRM1
chr1
24631716
24673281
+
EXOSC8
chr13
36998816
37009614
+
DHX8
chr17
43483865
43610338
+
TRPC4
chr13
37636636
37870425
-
POLDIP3
chr22
42583721
42614962
-
RPL30
chr8
98024851
98046469
-
COA7
chr1
52684449
52698347
-
DNMT3B
chr20
32762385
32809356
+
ATP6V1G2-DDX39B
chr6
31530219
31546608
-
RPS24
chr10
78033760
78056813
+
NR1H2
chr19
50329653
50383388
+
NCOA4
chr10
46005088
46030714
-
XPO1
chr2
61477849
61538626
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004812.2
chr12
120116907
120119000
+
AC009948.2
chr2
178548884
178550681
+
AC069287.1
chr11
112967
125927
-
AL831711.1
chr1
161433444
161440996
-
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.