Entry Detail



General Information

Database ID:exR0000318
RNA Name:ADNP2
RNA Type:mRNA
Chromosome:chr18
Starnd:+
Coordinate:
Start Site(bp):80109262End Site(bp):80147523
External Links:ENSG00000101544



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
PWP2
chr21
44107373
44131181
+
USP14
chr18
158383
214629
+
ERBB2
chr17
39687914
39730426
+
EEF2
chr19
3976056
3985463
-
MT-ND2
chrMT
4470
5511
+
RPL26
chr17
8377516
8383213
-
TOM1L2
chr17
17843511
17972422
-
DSC2
chr18
31058840
31102522
-
ARID4B
chr1
235131634
235328219
-
FBXO42
chr1
16246840
16352480
-
PEBP1
chr12
118136124
118145584
+
CDC42EP3
chr2
37641882
37738468
-
NOMO3
chr16
16232528
16294811
+
PTMA
chr2
231706895
231713541
+
ACTA2
chr10
88935074
88991339
-
ACTB
chr7
5527148
5563784
-
PRKCI
chr3
170222424
170305977
+
TOMM70
chr3
100363431
100401089
-
FP565260.1
chr21
5130871
5154658
-
RPS20
chr8
56067295
56074581
-
SH3GLB1
chr1
86704570
86748184
+
GRID2IP
chr7
6497462
6551436
-
COL4A2
chr13
110305812
110513209
+
PGP
chr16
2211593
2214840
-
CERS6
chr2
168455862
168775137
+
NAP1L1
chr12
76036585
76084958
-
ALDOA
chr16
30064164
30070457
+
RPA2
chr1
27891524
27914746
-
ITM2C
chr2
230864639
230879248
+
CALR
chr19
12938578
12944489
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-4508
chr15
23562107
23562123
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007218.1
chr16
9666885
9676843
-
AC135178.2
chr17
8318088
8318712
-
AL391294.1
chrX
81000150
81004217
-
HOXA-AS2
chr7
27107777
27134302
+
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.