Entry Detail



General Information

Database ID:exR0000484
RNA Name:ALDH2
RNA Type:mRNA
Chromosome:chr12
Starnd:+
Coordinate:
Start Site(bp):111766887End Site(bp):111817532
External Links:ENSG00000111275



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
WASF3
chr13
26557683
26688948
+
RACK1
chr5
181236897
181248096
-
ANKS1A
chr6
34889255
35091406
+
NME2
chr17
51165435
51171747
+
EIF5A
chr17
7306999
7312463
+
ZNF891
chr12
133106817
133130473
-
NPM1
chr5
171387116
171411137
+
LYSMD1
chr1
151159748
151165948
-
PEX5
chr12
7188685
7218574
+
RBM39
chr20
35701347
35742312
-
LAMA5
chr20
62307955
62367312
-
PITPNM1
chr11
67491768
67506263
-
RPL28
chr19
55385345
55403250
+
ANKRD11
chr16
89267630
89490561
-
TUBA1C
chr12
49188736
49274603
+
RBPJ
chr4
26163455
26435131
+
PRPF19
chr11
60890547
60906585
-
PRTG
chr15
55611544
55743152
-
ZNF671
chr19
57719751
57727624
-
CSK
chr15
74782057
74803198
+
AC002996.1
chr12
111753890
111791418
+
GPT2
chr16
46884362
46931289
+
PTPN9
chr15
75463251
75579315
-
SIRT7
chr17
81911939
81921323
-
DR1
chr1
93345907
93369493
+
ACTB
chr7
5527148
5563784
-
AC010422.3
chr19
12643831
12648397
-
RPL13
chr16
89560657
89566828
+
APOBEC3G
chr22
39077067
39087743
+
SIKE1
chr1
114769479
114780685
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC092117.1
chr16
2777319
2780568
+
AC108134.2
chr16
3156736
3157483
-
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.