Entry Detail



General Information

Database ID:exR0000477
RNA Name:ALDH18A1
RNA Type:mRNA
Chromosome:chr10
Starnd:-
Coordinate:
Start Site(bp):95605941End Site(bp):95656711
External Links:ENSG00000059573



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
GTF3C2
chr2
27325849
27357034
-
MCM7
chr7
100092728
100101940
-
GABARAP
chr17
7240008
7242449
-
PTPRS
chr19
5158495
5340803
-
OPTN
chr10
13099449
13138308
+
HOXD3
chr2
176136612
176173102
+
ELL2
chr5
95885098
95961851
-
MTA2
chr11
62593214
62601865
-
HNRNPC
chr14
21209136
21269494
-
CCNF
chr16
2429394
2458854
+
PGAM1
chr10
97426191
97433444
+
HMGXB3
chr5
150000046
150053142
+
ARPC1B
chr7
99374249
99394816
+
HSPA5
chr9
125234853
125241343
-
CSDE1
chr1
114716913
114758676
-
MTG1
chr10
133394094
133422520
+
SRM
chr1
11054584
11060020
-
AKAP13
chr15
85380571
85749358
+
MRFAP1
chr4
6640091
6642745
+
E2F4
chr16
67192155
67198918
+
EEF2KMT
chr16
5084284
5097795
-
SCAMP2
chr15
74843730
74873365
-
LASP1
chr17
38869859
38921770
+
AHCY
chr20
34280268
34311802
-
ACAT2
chr6
159762045
159779112
+
TNC
chr9
115019575
115118257
-
CAMTA2
chr17
4967992
4987675
-
CIAO1
chr2
96266159
96274173
+
DDX24
chr14
94048287
94081212
-
SRRM2
chr16
2752626
2772538
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC010319.3
chr19
17419305
17419774
-
AC016876.2
chr17
7581964
7584086
-
AL031595.3
chr22
44139365
44153626
+
FOXD2-AS1
chr1
47432133
47434641
-
LINC00667
chr18
5237826
5290608
+
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.