Entry Detail



General Information

Database ID:exR0000022
RNA Name:AASS
RNA Type:mRNA
Chromosome:chr7
Starnd:-
Coordinate:
Start Site(bp):122073549End Site(bp):122144255
External Links:ENSG00000008311



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
IRF3
chr19
49659569
49665875
-
CDK2
chr12
55966781
55972789
+
FUBP1
chr1
77944055
77979110
-
CDC34
chr19
531760
542092
+
AC010422.3
chr19
12643831
12648397
-
NDUFA4
chr7
10931943
10940153
-
ACTG1
chr17
81509971
81523847
-
C16orf70
chr16
67109941
67148544
+
AC015813.2
chr17
57989038
58007246
-
MATR3
chr5
139273752
139331671
+
QSOX1
chr1
180154869
180204030
+
FAR1
chr11
13668668
13732346
+
LMNB2
chr19
2427638
2456959
-
PKM
chr15
72199029
72231822
-
RPL18A
chr19
17859910
17864153
+
HDLBP
chr2
241227264
241317061
-
WDR3
chr1
117929720
117966543
+
ATP8B2
chr1
154325553
154351304
+
SLC25A5
chrX
119468422
119471396
+
SRSF5
chr14
69726900
69772005
+
ACTN1
chr14
68874143
68979440
-
ATP6V1G2-DDX39B
chr6
31530219
31546608
-
ADAMTS8
chr11
130404923
130428609
-
NASP
chr1
45583846
45618904
+
STX6
chr1
180972712
181023121
-
SLC25A28
chr10
99610522
99620609
-
RICTOR
chr5
38937920
39074399
-
LARP1
chr5
154712843
154817605
+
EIF3L
chr22
37848868
37889407
+
CMTM6
chr3
32481312
32502852
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC106864.1
chr4
112693047
112706810
-
AC138904.1
chr16
28284885
28292064
-
AL022311.1
chr22
37876148
37895563
+
AC068831.7
chr15
91022766
91023200
+
GABPB1-AS1
chr15
50354959
50372202
+
NORAD
chr20
36045618
36051018
-
ZBED3-AS1
chr5
77086688
77166909
+
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.