Entry Detail



General Information

Database ID:exR0000219
RNA Name:ACY1
RNA Type:mRNA
Chromosome:chr3
Starnd:+
Coordinate:
Start Site(bp):51983340End Site(bp):51989197
External Links:ENSG00000243989



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
INVS
chr9
100099243
100302175
+
PPP2R5E
chr14
63371364
63543377
-
SRSF1
chr17
58000919
58007346
-
ANP32A
chr15
68778535
68820897
-
KDELR2
chr7
6445953
6484190
-
OAS2
chr12
112978395
113011723
+
ILF3
chr19
10654261
10692417
+
SLC25A3
chr12
98593591
98606379
+
ABCG2
chr4
88090150
88231628
-
MAPK3
chr16
30114105
30123506
-
TUBA1B
chr12
49127782
49131397
-
NEDD8
chr14
24216857
24232367
-
ABHD14A-ACY1
chr3
51974706
51989183
+
LASP1
chr17
38869859
38921770
+
HERC1
chr15
63608618
63833948
-
LRIG3
chr12
58872149
58920522
-
TPI1
chr12
6867119
6870948
+
ZNF623
chr8
143636013
143656418
+
UBC
chr12
124911604
124917368
-
RPS3
chr11
75399515
75422280
+
RBM38
chr20
57391396
57409333
+
UCKL1
chr20
63939829
63956416
-
PPTC7
chr12
110533245
110583318
-
TRIM28
chr19
58544064
58550722
+
RPLP0
chr12
120196699
120201235
-
PABPN1
chr14
23321289
23326185
+
GANAB
chr11
62624826
62646726
-
PLAT
chr8
42174718
42207676
-
TMEM184B
chr22
38219291
38273010
-
GNL3
chr3
52681156
52694497
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-625-5p
chr14
65471116
65471136
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AD000090.1
chr19
35557956
35581954
+
DANCR
chr4
52712404
52720351
+
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.