Entry Detail



General Information

Database ID:exR0000384
RNA Name:AGPAT5
RNA Type:mRNA
Chromosome:chr8
Starnd:+
Coordinate:
Start Site(bp):6708642End Site(bp):6761503
External Links:ENSG00000155189



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
MFSD14B
chr9
94374569
94461042
+
RPL18A
chr19
17859910
17864153
+
NCL
chr2
231453531
231483641
-
PFN1
chr17
4945652
4949061
-
GNA12
chr7
2728105
2844308
-
RPL14
chr3
40457292
40468587
+
MMP24OS
chr20
35201745
35278131
-
Z82206.1
chr22
39960397
39964718
+
PRKAB1
chr12
119667864
119681624
+
TMEM129
chr4
1715952
1721358
-
PIGL
chr17
16217191
16351797
+
ARAP1
chr11
72685069
72793599
-
MRPL30
chr2
99181152
99199561
+
ELP3
chr8
28089673
28191156
+
AC010422.3
chr19
12643831
12648397
-
EEF1G
chr11
62559596
62574086
-
SLC9A3
chr5
470456
524449
-
EIF2A
chr3
150546678
150586016
+
ARL6IP1
chr16
18791669
18801572
-
TMEM241
chr18
23197144
23437961
-
PKIG
chr20
44531785
44624247
+
ATF2
chr2
175072250
175168382
-
LENG8
chr19
54448887
54462037
+
TMEM248
chr7
66921225
66958551
+
FKBP4
chr12
2794970
2805423
+
TPT1
chr13
45333471
45341370
-
ELL
chr19
18442663
18522116
-
DPY19L1
chr7
34928876
35038271
-
CRYL1
chr13
20403666
20525873
-
RACK1
chr5
181236897
181248096
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC010442.1
chr5
466124
473098
-
AC104461.1
chr1
200333193
200478669
+
AL022311.1
chr22
37876148
37895563
+
AC116565.1
chr4
577168
618076
+
ESRG
chr3
54632122
54639857
-
MALAT1
chr11
65497688
65506516
+
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.