Entry Detail



General Information

Database ID:exR0000203
RNA Name:ACTR1B
RNA Type:mRNA
Chromosome:chr2
Starnd:-
Coordinate:
Start Site(bp):97655939End Site(bp):97664044
External Links:ENSG00000115073



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
TEDC2
chr16
2460086
2464963
+
COMMD1
chr2
61888724
62147247
+
SDC2
chr8
96493813
96611790
+
SND1
chr7
127652194
128092609
+
RAB11A
chr15
65726054
65891989
+
ACTG1
chr17
81509971
81523847
-
PCBP1
chr2
70087477
70089203
+
WRAP73
chr1
3630767
3652761
-
ACTA1
chr1
229431245
229434098
-
SNURF
chr15
24954986
24977850
+
PIK3C2B
chr1
204422628
204494724
-
KEAP1
chr19
10486125
10503558
-
GAPDH
chr12
6534512
6538374
+
GSTP1
chr11
67583742
67586656
+
POTEE
chr2
131218067
131265278
+
KCTD2
chr17
75032575
75065889
+
YLPM1
chr14
74763316
74859435
+
MTRNR2L12
chr3
96617188
96618236
-
MFSD2B
chr2
24010081
24063321
+
PGAM1
chr10
97426191
97433444
+
BAG6
chr6
31639028
31652705
-
PTMA
chr2
231706895
231713541
+
PSMB1
chr6
170535120
170553307
-
PLXNB2
chr22
50274979
50307646
-
RPN1
chr3
128619969
128681075
-
ZNF106
chr15
42412823
42491141
-
CLNS1A
chr11
77514936
77637794
-
ABLIM1
chr10
114431113
114768061
-
AL136295.5
chr14
24147548
24166452
+
EWSR1
chr22
29268009
29300525
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC008555.1
chr19
34811589
34814345
-
AL021707.2
chr22
38667585
38681847
-
AL355075.4
chr14
20343048
20343685
-
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.