Entry Detail



General Information

Database ID:exR0010493
RNA Name:PEBP1
RNA Type:mRNA
Chromosome:chr12
Starnd:+
Coordinate:
Start Site(bp):118136124End Site(bp):118145584
External Links:ENSG00000089220



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
ABRACL
chr6
139028745
139043302
+
AC005258.1
chr19
2269525
2341172
+
AC008982.1
chr19
38817471
38840178
-
AC010422.3
chr19
12643831
12648397
-
AC091167.2
chr15
90249556
90272208
+
AC092143.1
chr16
89919165
89936092
+
AC139530.2
chr17
81703371
81720539
+
AC245033.1
chr15
82536788
82573194
-
ACAD9
chr3
128879596
128916067
+
ACTB
chr7
5527148
5563784
-
ADAM10
chr15
58588809
58749791
-
ADGRG2
chrX
18989307
19122637
-
ADNP2
chr18
80109262
80147523
+
ADSL
chr22
40346500
40390463
+
AEN
chr15
88621337
88632281
+
AKAP8L
chr19
15380050
15419141
-
AKR1B1
chr7
134442356
134459284
-
AL133352.1
chr10
100505628
100529881
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-302d-3p
chr4
112648006
112648028
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC023509.1
chr12
53441741
53467528
+
AC040162.3
chr16
67882461
67886367
+
AC068473.5
chr18
79677287
79679358
-
AC091564.7
chr11
6610883
6616594
-
AC132217.1
chr11
2129121
2129964
-
AC245033.4
chr15
82533175
82540008
-
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.