Entry Detail



General Information

Database ID:exR0000202
RNA Name:ACTR1A
RNA Type:mRNA
Chromosome:chr10
Starnd:-
Coordinate:
Start Site(bp):102461881End Site(bp):102502712
External Links:ENSG00000138107



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
ACTR1B
chr2
97655939
97664044
-
AP002990.1
chr11
62559603
62591531
-
PPP3R1
chr2
68178857
68256237
-
MT-ND3
chrMT
10059
10404
+
CDK19
chr6
110609978
110815958
-
ERC2
chr3
55508311
56468467
-
MT-ND1
chrMT
3307
4262
+
INO80
chr15
40978880
41116280
-
TCOF1
chr5
150357629
150400308
+
OS9
chr12
57693955
57721557
+
GOLGA7
chr8
41490396
41510980
+
PAPOLA
chr14
96501433
96567111
+
IGFBP2
chr2
216632828
216664436
+
RPL27A
chr11
8682788
8714759
+
PDE7A
chr8
65717510
65842322
-
RPS6
chr9
19375715
19380236
-
HNRNPL
chr19
38836388
38852347
-
MT-ND4
chrMT
10760
12137
+
EIF5AL1
chr10
79512601
79516440
+
COMMD10
chr5
116085016
116412762
+
TMSB4X
chrX
12975110
12977227
+
RPL29
chr3
51993522
51995895
-
CBSL
chr21
6444869
6468040
-
GGCT
chr7
30496621
30504841
-
ARHGEF19
chr1
16197854
16212652
-
SAE1
chr19
47113274
47210636
+
TRIM28
chr19
58544064
58550722
+
CHST14
chr15
40470998
40474571
+
TBCB
chr19
36114289
36125947
+
CREBL2
chr12
12611827
12645108
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-363-3p
chrX
134169382
134169403
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC011297.1
chrY
6918682
6920791
+
AC027020.2
chr15
100547765
100550153
-
AC245014.3
chr1
145281116
145281462
+
XIST
chrX
73820649
73852723
-
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.