Entry Detail



General Information

Database ID:exR0000490
RNA Name:ALDH5A1
RNA Type:mRNA
Chromosome:chr6
Starnd:+
Coordinate:
Start Site(bp):24494867End Site(bp):24537207
External Links:ENSG00000112294



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
YWHAB
chr20
44885702
44908532
+
B2M
chr15
44711487
44718877
+
SLC25A6
chrX
1386152
1392113
-
MAP7D1
chr1
36155579
36180849
+
TTC19
chr17
15999784
16045015
+
EIF3E
chr8
108201216
108435333
-
FBRSL1
chr12
132489551
132585188
+
IRF2BP2
chr1
234604269
234609525
-
USP53
chr4
119212587
119295517
+
SH3GLB2
chr9
129007036
129028303
-
MYO10
chr5
16661907
16936288
-
TET3
chr2
73986404
74108176
+
STK11IP
chr2
219597857
219616451
+
NFKB2
chr10
102394110
102402524
+
MAPK12
chr22
50245450
50261716
-
ERRFI1
chr1
8004404
8026309
-
PNMA2
chr8
26504701
26514092
-
HUWE1
chrX
53532096
53686728
-
GTF2F1
chr19
6379572
6393981
-
RPS6
chr9
19375715
19380236
-
RPL37A
chr2
216498825
216579180
+
SLX1A
chr16
30193887
30197561
+
BAX
chr19
48954815
48961798
+
IGF2
chr11
2129112
2141238
-
KLC4
chr6
43040777
43075095
+
ZNF33A
chr10
38010650
38065088
+
ZNF12
chr7
6688433
6706947
-
LASP1
chr17
38869859
38921770
+
RPL13
chr16
89560657
89566828
+
FAM104B
chrX
55143102
55161310
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-129-5p
chr7
128207876
128207896
+
hsa-miR-330-5p
chr19
45639049
45639070
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC022201.2
chr2
70301451
70302072
+
AL645941.1
chr6
32970232
32970886
+
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.