Entry Detail



General Information

Database ID:exR0000021
RNA Name:AASDHPPT
RNA Type:mRNA
Chromosome:chr11
Starnd:+
Coordinate:
Start Site(bp):106075501End Site(bp):106098699
External Links:ENSG00000149313



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
GTF2F2
chr13
45120510
45284893
+
CFL1
chr11
65823022
65862026
-
NUP93
chr16
56730118
56850286
+
HSD17B8
chr6
33204655
33206831
+
RPL3
chr22
39312882
39320389
-
RASSF3
chr12
64507001
64697564
+
TMBIM6
chr12
49707725
49764934
+
HNRNPL
chr19
38836388
38852347
-
CXXC4
chr4
104468308
104494901
-
PSME3
chr17
42824385
42843760
+
AHCY
chr20
34280268
34311802
-
ESRP1
chr8
94641074
94707466
+
AKAP10
chr17
19904302
19978343
-
PCLAF
chr15
64364304
64387687
-
COA3
chr17
42795147
42798704
-
MTA2
chr11
62593214
62601865
-
EIF4G2
chr11
10797050
10808940
-
WDR73
chr15
84639281
84654343
-
PUM2
chr2
20248691
20352234
-
GTPBP6
chrX
304529
318819
-
NAP1L4
chr11
2944431
2992377
-
MATR3
chr5
139273752
139331671
+
IRF7
chr11
612553
615983
-
SINHCAF
chr12
31280584
31327058
-
RAB8A
chr19
16111889
16134234
+
SPG21
chr15
64963022
64990310
-
PANK3
chr5
168548495
168579368
-
DIAPH1
chr5
141515016
141619055
-
RPS29
chr14
49570984
49599164
-
HMGA1
chr6
34236873
34246231
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC064807.1
chr8
51899268
51949874
+
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.