Entry Detail



General Information

Database ID:exR0000185
RNA Name:ACTA2
RNA Type:mRNA
Chromosome:chr10
Starnd:-
Coordinate:
Start Site(bp):88935074End Site(bp):88991339
External Links:ENSG00000107796



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
ZNF516
chr18
76357682
76495242
-
HNRNPDL
chr4
82422564
82430408
-
RPS16
chr19
39433137
39435949
-
HLA-B
chr6
31269491
31357188
-
ATP5F1B
chr12
56638175
56645984
-
TMSB4X
chrX
12975110
12977227
+
HLA-A
chr6
29941260
29945884
+
POTEF
chr2
130073535
130129222
-
GCN1
chr12
120127202
120194715
-
HNRNPH3
chr10
68331174
68343191
+
TRAP1
chr16
3651639
3717553
-
ATP5PB
chr1
111448864
111462773
+
PWWP2B
chr10
132397168
132417859
+
PHF23
chr17
7235029
7239722
-
HLA-DMA
chr6
32948613
32969094
-
RPS8
chr1
44775251
44778779
+
PEX2
chr8
76980258
77001044
-
BAIAP2L1
chr7
98291650
98401090
-
CLUH
chr17
2689386
2712663
-
UQCRC1
chr3
48599002
48610976
-
CCT7
chr2
73233420
73253021
+
HLA-DQA1
chr6
32628179
32647062
+
ACTG1
chr17
81509971
81523847
-
CNBP
chr3
129169484
129183922
-
PTTG1
chr5
160421855
160428739
+
ATN1
chr12
6924463
6942321
+
DDIT4
chr10
72273924
72276036
+
POLN
chr4
2071918
2242121
-
RAB12
chr18
8609437
8639382
+
RARA
chr17
40309180
40357643
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC139149.1
chr17
81514047
81527776
+
AC013269.1
chr2
130530275
130537182
+
MALAT1
chr11
65497688
65506516
+
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.