Entry Detail



General Information

Database ID:exR0000406
RNA Name:AHRR
RNA Type:mRNA
Chromosome:chr5
Starnd:+
Coordinate:
Start Site(bp):271670End Site(bp):438291
External Links:ENSG00000286169



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
ALDOA
chr16
30064164
30070457
+
CARM1
chr19
10871513
10923070
+
COQ2
chr4
83261536
83284914
-
DDA1
chr19
17309518
17323298
+
GATAD1
chr7
92447482
92460075
+
GATM
chr15
45361124
45402327
-
HLA-C
chr6
31268749
31272130
-
HLA-DQA1
chr6
32628179
32647062
+
KIF2C
chr1
44739818
44767767
+
LPGAT1
chr1
211743457
211830763
-
MTMR3
chr22
29883155
30030866
+
NAMPT
chr7
106248298
106286326
-
NDUFS7
chr19
1383527
1395589
+
PDCD6
chr5
271621
314974
+
PHB2
chr12
6965327
6970753
-
PRKRIP1
chr7
102363872
102426676
+
PUS7
chr7
105439661
105522271
-
RPL11
chr1
23691742
23696835
+
RPL13
chr16
89560657
89566828
+
RPS19
chr19
41860255
41872925
+
RPS8
chr1
44775251
44778779
+
SDHA
chr5
218241
257082
+
STRAP
chr12
15882387
15903478
+
TAF1C
chr16
84177847
84187070
-
THAP7
chr22
20999104
21002196
-
TRAPPC6A
chr19
45162928
45178237
-
TRIM65
chr17
75880335
75896951
-
YIF1A
chr11
66284580
66289145
-
ZNF764
chr16
30553764
30558498
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-155-5p
chr21
25573983
25574006
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
MIR155HG
chr21
25561909
25575168
+
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.