Entry Detail



General Information

Database ID:exR0000317
RNA Name:ADNP
RNA Type:mRNA
Chromosome:chr20
Starnd:-
Coordinate:
Start Site(bp):50888916End Site(bp):50931437
External Links:ENSG00000101126



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
HNRNPA3
chr2
177212563
177223958
+
GRPEL1
chr4
7058895
7068064
-
SNRPA
chr19
40750637
40765389
+
IL9R
chrX
155997581
156010817
+
RPLP0
chr12
120196699
120201235
-
COG8
chr16
69320140
69339667
-
CREBRF
chr5
173056352
173139284
+
RREB1
chr6
7107597
7251980
+
LMO2
chr11
33858576
33892076
-
HDGF
chr1
156742109
156766925
-
TUBA1B
chr12
49127782
49131397
-
ZFAND3
chr6
37819727
38154624
+
CUL9
chr6
43182184
43224587
+
SLC39A10
chr2
195575977
195737702
+
GATD1
chr11
767220
777488
-
POLR2B
chr4
56977722
57031158
+
HPS5
chr11
18278668
18322198
-
KDM3B
chr5
138352685
138437028
+
CCT3
chr1
156308968
156367873
-
ACOT9
chrX
23701055
23766475
-
MTCH1
chr6
36968141
36986298
-
LRP11
chr6
149818757
149864359
-
LMAN1
chr18
59327823
59359265
-
EIF4E2
chr2
232550674
232583644
+
CBL
chr11
119206298
119313926
+
ATP5MC3
chr2
175176258
175184607
-
C18orf25
chr18
46173553
46266992
+
MAP7D1
chr1
36155579
36180849
+
HMGA1
chr6
34236873
34246231
+
PRMT3
chr11
20387558
20509338
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-17-5p
chr13
91350618
91350640
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC023509.1
chr12
53441741
53467528
+
AJ271736.1
chrX
156004218
156022236
+
AC079949.1
chr12
127142029
127146532
-
MALAT1
chr11
65497688
65506516
+
MIR17HG
chr13
91347820
91354579
+
TUG1
chr22
30969245
30979395
+
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.