Entry Detail



General Information

Database ID:exR0000353
RNA Name:AFMID
RNA Type:mRNA
Chromosome:chr17
Starnd:+
Coordinate:
Start Site(bp):78187317End Site(bp):78207701
External Links:ENSG00000183077



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
ALDOA
chr16
30064164
30070457
+
C8orf88
chr8
90958471
90985238
-
CCT7
chr2
73233420
73253021
+
CFL1
chr11
65823022
65862026
-
CNOT1
chr16
58519951
58629885
-
CRYBG2
chr1
26321698
26360080
-
CSRP2
chr12
76858709
76879023
-
EEF1D
chr8
143579697
143599541
-
FLNA
chrX
154348524
154374638
-
GTPBP3
chr19
17334920
17342731
+
HLA-DPB1
chr6
33075990
33089696
+
HOXD9
chr2
176122719
176124937
+
LMNB1
chr5
126776623
126837020
+
LPCAT1
chr5
1456480
1523962
-
MAP3K11
chr11
65597756
65615382
-
MYO1C
chr17
1464186
1492686
-
NCBP3
chr17
3802158
3846246
-
PCNP
chr3
101574180
101594465
+
PPIA
chr7
44796680
44824564
+
RANBP2
chr2
108719482
108785809
+
RBM5
chr3
50088919
50119021
+
SIPA1L1
chr14
71320449
71741229
+
SRA1
chr5
140537340
140558252
-
TLR7
chrX
12867072
12890361
+
UHRF1BP1
chr6
34792015
34883138
+
UQCRHL
chr1
15807169
15809348
-
USF2
chr19
35268962
35279821
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AL021707.3
chr22
38734730
38738990
+
RMRP
chr9
35657751
35658018
-
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.