Entry Detail



General Information

Database ID:exR0000012
RNA Name:AAGAB
RNA Type:mRNA
Chromosome:chr15
Starnd:-
Coordinate:
Start Site(bp):67200667End Site(bp):67255195
External Links:ENSG00000103591



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
BTBD1
chr15
83016423
83067252
-
PIMREG
chr17
6444441
6451469
+
HNRNPA1
chr12
54280193
54287088
+
SETD1A
chr16
30957754
30984664
+
RAC3
chr17
82031678
82034204
+
ARF4
chr3
57571363
57598220
-
RPL27
chr17
42998273
43002959
+
HSDL1
chr16
84122141
84145192
-
CHD7
chr8
60678740
60868028
+
CRABP2
chr1
156699606
156705816
-
DUT
chr15
48331011
48343373
+
UNC119B
chr12
120710458
120723640
+
PRDM2
chr1
13700198
13825079
+
BCAP31
chrX
153700492
153724565
-
TOMM20
chr1
235109341
235128837
-
CDPF1
chr22
46244011
46250311
-
MRPL45
chr17
38297023
38323217
+
CHMP3
chr2
86503430
86563479
-
RPS23
chr5
82273320
82278396
-
RTN4
chr2
54972187
55112621
-
CCND2
chr12
4273762
4305353
+
FUS
chr16
31180110
31194871
+
YWHAQ
chr2
9583967
9630997
-
PFN1
chr17
4945652
4949061
-
GPAM
chr10
112149865
112215377
-
HYAL2
chr3
50317790
50322782
-
R3HDM1
chr2
135531455
135725270
+
FTL
chr19
48965309
48966879
+
RPL10A
chr6
35468401
35470785
+
RIC1
chr9
5629025
5776557
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
HLA-F-AS1
chr6
29726601
29749049
-
PARD6G-AS1
chr18
80147924
80179839
+
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.