Entry Detail



General Information

Database ID:exR0000060
RNA Name:ABCD4
RNA Type:mRNA
Chromosome:chr14
Starnd:-
Coordinate:
Start Site(bp):74285269End Site(bp):74303055
External Links:ENSG00000119688



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
QSER1
chr11
32892820
32993316
+
MRPL46
chr15
88459477
88467390
-
MXRA8
chr1
1352689
1361777
-
NSUN2
chr5
6599239
6633291
-
M6PR
chr12
8940361
8949761
-
SIK1
chr21
43414483
43427131
-
RPL10
chrX
154389955
154409168
+
SFI1
chr22
31488688
31618588
+
C5orf24
chr5
134845680
134859735
+
RDH13
chr19
55039108
55071291
-
CRYL1
chr13
20403666
20525873
-
LONRF3
chrX
118974614
119018355
+
ORC3
chr6
87590067
87667453
+
ACOT8
chr20
45841721
45857405
-
TP53RK
chr20
46684365
46689444
-
ZNF668
chr16
31060843
31074240
-
PFN1
chr17
4945652
4949061
-
LTK
chr15
41503637
41513887
-
TOMM40L
chr1
161225939
161230746
+
FBXW4
chr10
101610664
101695295
-
NEO1
chr15
73051710
73305205
+
SELENOS
chr15
101270817
101277500
-
NHP2
chr5
178149460
178153967
-
EIF4H
chr7
74174245
74197101
+
HSP90AB1
chr6
44246166
44253888
+
BTBD2
chr19
1985438
2034881
-
TRIP13
chr5
892884
919357
+
HSPA4
chr5
133052013
133106449
+
CCDC167
chr6
37482938
37499893
-
VMP1
chr17
59707192
59842255
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005519.1
chr14
74289127
74294425
-
AC005562.1
chr17
30576464
30672789
+
AC007952.4
chr17
19112000
19112636
-
AC011476.2
chr19
55027593
55053928
-
MALAT1
chr11
65497688
65506516
+
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.