Entry Detail



General Information

Database ID:exR0004746
RNA Name:EZR
RNA Type:mRNA
Chromosome:chr6
Starnd:-
Coordinate:
Start Site(bp):158765741End Site(bp):158819368
External Links:ENSG00000092820



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
+
AC004922.1
chr7
99325879
99394653
+
AC010132.3
chr7
42909273
42932174
-
AC092143.1
chr16
89919165
89936092
+
AC245033.1
chr15
82536788
82573194
-
ACAT1
chr11
108116695
108147603
+
ACKR3
chr2
236567787
236582354
+
ACTB
chr7
5527148
5563784
-
ACTR1A
chr10
102461881
102502712
-
ACTR3
chr2
113890063
113962596
+
ADH5
chr4
99070978
99088801
-
ADIPOR1
chr1
202940826
202958572
-
ADSL
chr22
40346500
40390463
+
AFDN
chr6
167826922
167972023
+
AGBL5
chr2
27042364
27070622
+
AGPAT2
chr9
136673143
136687457
-
AL022238.4
chr22
40346529
40410054
+
AL136295.4
chr14
24180395
24190416
-
AL365205.1
chr6
41780349
41790141
+
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-92a-3p
chrX
134169544
134169565
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC010733.2
chr2
60925909
60931610
+
AC023509.1
chr12
53441741
53467528
+
AC106864.1
chr4
112693047
112706810
-
AC110619.1
chr2
240449315
240456714
-
AC126365.1
chr17
20788071
20789584
+
AC132217.1
chr11
2129121
2129964
-
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.