Entry Detail



General Information

Database ID:exR0000209
RNA Name:ACTR6
RNA Type:mRNA
Chromosome:chr12
Starnd:+
Coordinate:
Start Site(bp):100199122End Site(bp):100241865
External Links:ENSG00000075089



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
ANKFY1
chr17
4163821
4263995
-
DDX24
chr14
94048287
94081212
-
AP002990.1
chr11
62559603
62591531
-
CD52
chr1
26317958
26320523
+
HNRNPC
chr14
21209136
21269494
-
RPS23
chr5
82273320
82278396
-
NAGK
chr2
71064344
71079808
+
EEF1G
chr11
62559596
62574086
-
RPL13
chr16
89560657
89566828
+
IGF2
chr11
2129112
2141238
-
UBE2D3
chr4
102794383
102868896
-
CD81
chr11
2376177
2397419
+
VSIG10
chr12
118063593
118136026
-
TMEM123
chr11
102396332
102470384
-
ACTB
chr7
5527148
5563784
-
GYG2
chrX
2828822
2882820
+
RAB35
chr12
120095099
120117502
-
NSUN5
chr7
73302516
73308826
-
HLA-C
chr6
31268749
31272130
-
ATP6AP2
chrX
40579372
40606848
+
FTH1
chr11
61959718
61967634
-
MTRNR2L12
chr3
96617188
96618236
-
ADH5
chr4
99070978
99088801
-
CLEC2D
chr12
9664969
9699553
+
NONO
chrX
71283192
71301168
+
RPS7
chr2
3575260
3580920
+
ZNF90
chr19
20077994
20127076
+
SLAMF1
chr1
160608106
160647295
-
ST8SIA1
chr12
22063773
22437041
-
YIPF3
chr6
43511832
43516985
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-6747-3p
chr11
62567011
62567031
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
LINC02539
chr6
137730170
137792835
-
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.