Entry Detail



General Information

Database ID:exR0010592
RNA Name:PHB2
RNA Type:mRNA
Chromosome:chr12
Starnd:-
Coordinate:
Start Site(bp):6965327End Site(bp):6970753
External Links:ENSG00000215021



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
AAMP
chr2
218264123
218270257
-
ABL1
chr9
130713016
130887675
+
ABT1
chr6
26596953
26600739
+
AC004832.3
chr22
30409255
30428990
+
AC006064.6
chr12
6556886
6607367
-
AC007192.1
chr19
18153158
18178117
+
AC010422.3
chr19
12643831
12648397
-
AC011511.1
chr19
10305427
10316009
-
AC093525.1
chr16
2513965
2527955
+
AC245033.1
chr15
82536788
82573194
-
ACAT1
chr11
108116695
108147603
+
ACIN1
chr14
23058564
23095614
-
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACTN4
chr19
38647649
38731589
+
ADAR
chr1
154582057
154628013
-
ADCY1
chr7
45574140
45723116
+
ADCY2
chr5
7396138
7830081
+
ADCY3
chr2
24819169
24919839
-
ADD2
chr2
70607618
70768225
-
ADGRL2
chr1
81306160
81992436
+
ADNP2
chr18
80109262
80147523
+
AHRR
chr5
271670
438291
+
AL021546.1
chr12
120438198
120460006
+
ALAS1
chr3
52198086
52214327
+
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-491-5p
chr9
20716120
20716141
+
hsa-miR-625-5p
chr14
65471116
65471136
+
hsa-miR-744-5p
chr17
12081909
12081930
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC002116.1
chr19
36008638
36014235
-
AC006064.5
chr12
6510275
6510522
+
AC010642.2
chr19
58309727
58327248
-
AC016876.2
chr17
7581964
7584086
-
AC023509.1
chr12
53441741
53467528
+
AC091564.7
chr11
6610883
6616594
-
AC139149.1
chr17
81514047
81527776
+
AC245033.4
chr15
82533175
82540008
-
AD000090.1
chr19
35557956
35581954
+
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.