Entry Detail



General Information

Database ID:exR0000182
RNA Name:ACSS2
RNA Type:mRNA
Chromosome:chr20
Starnd:+
Coordinate:
Start Site(bp):34872146End Site(bp):34927962
External Links:ENSG00000131069



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
RPS19
chr19
41860255
41872925
+
TUBA1B
chr12
49127782
49131397
-
VPS26B
chr11
134224671
134247788
+
EIF6
chr20
35278911
35284985
-
KIAA0930
chr22
45190338
45240769
-
KLHDC4
chr16
87696485
87765992
-
TXNL4A
chr18
79970813
80033949
-
TUBA1A
chr12
49184795
49189080
-
NDUFB1
chr14
92116122
92121917
-
DUT
chr15
48331011
48343373
+
NUCKS1
chr1
205712822
205750182
-
SIK3
chr11
116843402
117098437
-
COPS7B
chr2
231781671
231809254
+
LMBR1
chr7
156668946
156893216
-
PFN1
chr17
4945652
4949061
-
SLC52A3
chr20
760080
776015
-
BLOC1S4
chr4
6716174
6717664
+
GDI2
chr10
5765223
5842132
-
DDX5
chr17
64498254
64508199
-
TPI1
chr12
6867119
6870948
+
KXD1
chr19
18557762
18569387
+
NDUFS7
chr19
1383527
1395589
+
DPF2
chr11
65333852
65354262
+
AL121753.1
chr20
35267885
35280043
-
STAT5B
chr17
42199177
42276707
-
RPS11
chr19
49496365
49499708
+
DYNLL1
chr12
120469850
120498493
+
PPP6R1
chr19
55229779
55259017
-
STAU1
chr20
49113339
49188367
-
HSP90AB1
chr6
44246166
44253888
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-18a-5p
chr13
91350756
91350778
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AL022311.1
chr22
37876148
37895563
+
AL022332.1
chr22
25279529
25282674
-
GAS5
chr1
173858559
173868882
-
LINC01405
chr12
110934590
110959093
+
MIR17HG
chr13
91347820
91354579
+
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.