Entry Detail



General Information

Database ID:exR0000204
RNA Name:ACTR2
RNA Type:mRNA
Chromosome:chr2
Starnd:+
Coordinate:
Start Site(bp):65227753End Site(bp):65271253
External Links:ENSG00000138071



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
TBPL1
chr6
133952170
133990432
+
LEPROT
chr1
65420587
65436007
+
SHMT2
chr12
57229573
57234935
+
DDX10
chr11
108665069
108940927
+
VASH2
chr1
212950520
212992037
+
FUS
chr16
31180110
31194871
+
FAAP100
chr17
81539885
81553961
-
KIAA0355
chr19
34254552
34355571
+
WASF2
chr1
27404230
27490167
-
TUBA3D
chr2
131476119
131482934
+
UBA52
chr19
18571730
18577550
+
SURF6
chr9
133328776
133336188
-
AMOT
chrX
112774503
112840815
-
RBM47
chr4
40423267
40630875
-
TBC1D7
chr6
13266542
13328583
-
GLS
chr2
190880821
190965552
+
PRMT5
chr14
22920525
22929408
-
IGF2
chr11
2129112
2141238
-
GZF1
chr20
23362182
23373062
+
UCHL5
chr1
193012250
193060080
-
VTA1
chr6
142147162
142224685
+
MXI1
chr10
110207605
110287365
+
FRMD8
chr11
65386621
65413525
+
RTN3
chr11
63681446
63759891
+
KPNA1
chr3
122421902
122514945
-
AL035078.4
chr11
31812391
32104665
+
MTRNR2L12
chr3
96617188
96618236
-
RAC2
chr22
37225270
37244448
-
RBM8A
chr1
145917714
145927678
-
ATP9B
chr18
79069285
79378287
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC068831.7
chr15
91022766
91023200
+
AC138761.1
chr17
22266395
22288301
+
LINC01018
chr5
6582136
6600288
+
LINC01641
chr1
227393554
227431035
+
OIP5-AS1
chr15
41283990
41309737
+
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.