Entry Detail



General Information

Database ID:exR0003718
RNA Name:DDB1
RNA Type:mRNA
Chromosome:chr11
Starnd:-
Coordinate:
Start Site(bp):61299451End Site(bp):61342596
External Links:ENSG00000167986



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
-
ABCB8
chr7
151028422
151047782
+
ABI2
chr2
203328239
203447728
+
ABRACL
chr6
139028745
139043302
+
AC005258.1
chr19
2269525
2341172
+
AC008982.1
chr19
38817471
38840178
-
AC011448.1
chr19
19516227
19536076
+
AC118549.1
chr1
77562416
77683419
-
ACBD6
chr1
180269653
180502954
-
ACIN1
chr14
23058564
23095614
-
ACSL1
chr4
184755595
184826818
-
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACTR3
chr2
113890063
113962596
+
ACTR8
chr3
53867066
53882152
-
ADAMTS1
chr21
26835755
26845409
-
ADAR
chr1
154582057
154628013
-
ADGRG6
chr6
142301854
142446266
+
AGO2
chr8
140520156
140635633
-
AGPAT4
chr6
161129967
161274061
-
AJUBA
chr14
22971177
22982551
-
AKR7A2
chr1
19303965
19312146
-
AKT1
chr14
104769349
104795751
-
AKT1S1
chr19
49869033
49878459
-
AL133352.1
chr10
100505628
100529881
-
AL136454.1
chr1
192716132
192716653
+
AL139011.2
chr1
160216800
160285130
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-155-5p
chr21
25573983
25574006
+
hsa-miR-367-3p
chr4
112647877
112647898
-
hsa-miR-155-3p
chr21
25574022
25574043
+
hsa-miR-4426
chr1
192716333
192716349
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC012485.1
chr2
238231684
238255633
+
AC016876.2
chr17
7581964
7584086
-
AC020663.1
chr16
4730115
4752565
-
AC124068.2
chr15
89335053
89336161
+
AC133644.3
chr2
87455476
87767359
+
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
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.