Entry Detail



General Information

Database ID:exR0000183
RNA Name:ACSS3
RNA Type:mRNA
Chromosome:chr12
Starnd:+
Coordinate:
Start Site(bp):80936414End Site(bp):81261210
External Links:ENSG00000111058



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
TRAM1L1
chr4
117083554
117085576
-
NMNAT2
chr1
183248237
183418380
-
EPB41L2
chr6
130839347
131063322
-
CNST
chr1
246566444
246668595
+
TJP1
chr15
29699367
29968865
-
UBL7
chr15
74445977
74461182
-
SENP3-EIF4A1
chr17
7563287
7578715
+
UBE2E1
chr3
23805955
23891640
+
MIDN
chr19
1248553
1259140
+
TUBB
chr6
30720352
30725426
+
KXD1
chr19
18557762
18569387
+
U2SURP
chr3
142964497
143060725
+
TPI1
chr12
6867119
6870948
+
UBE2D2
chr5
139526431
139628434
+
SCAPER
chr15
76347904
76905444
-
PTGES3
chr12
56663341
56688408
-
DEK
chr6
18223860
18264548
-
OPRD1
chr1
28812142
28871267
+
POLR1D
chr13
27620742
27744237
+
RPS23
chr5
82273320
82278396
-
EIF4A1
chr17
7572706
7579006
+
RHEB
chr7
151466012
151520120
-
RPS6KC1
chr1
213051233
213274774
+
ME2
chr18
50879080
50954257
+
ARF4
chr3
57571363
57598220
-
ENO1
chr1
8861000
8879190
-
SWT1
chr1
185157080
185291781
+
CRABP2
chr1
156699606
156705816
-
NONO
chrX
71283192
71301168
+
HMGN4
chr6
26538366
26546933
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC016876.2
chr17
7581964
7584086
-
NIFK-AS1
chr2
121649320
121728563
+
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.