Entry Detail



General Information

Database ID:exR0000078
RNA Name:ABHD14B
RNA Type:mRNA
Chromosome:chr3
Starnd:-
Coordinate:
Start Site(bp):51968510End Site(bp):51983409
External Links:ENSG00000114779



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
FTL
chr19
48965309
48966879
+
SMARCD1
chr12
50085200
50100707
+
UTP3
chr4
70688532
70690551
+
RPL13A
chr19
49487554
49492308
+
NELFB
chr9
137255327
137273542
+
HLA-DPB1
chr6
33075990
33089696
+
RIC8A
chr11
207511
215113
+
GATD1
chr11
767220
777488
-
AC010422.3
chr19
12643831
12648397
-
RTCA
chr1
100266207
100292769
+
CCDC86
chr11
60842113
60851081
+
ZNF160
chr19
53066606
53103436
-
RHOA
chr3
49359145
49412998
-
RPL37
chr5
40825262
40835222
-
EEF2
chr19
3976056
3985463
-
RPS6
chr9
19375715
19380236
-
JOSD2
chr19
50505998
50511353
-
SSRP1
chr11
57325986
57335892
-
PABPC1
chr8
100685816
100722809
-
PCBP4
chr3
51957454
51974016
-
RABGEF1
chr7
66682164
66811464
+
GIMAP1-GIMAP5
chr7
150716668
150743646
+
NDUFA2
chr5
140638740
140647785
-
AGTPBP1
chr9
85546539
85742029
-
TRA2B
chr3
185914558
185938103
-
UGT8
chr4
114598770
114678225
+
VCL
chr10
73995193
74121363
+
SLC25A39
chr17
44319625
44324870
-
AC027644.4
chr7
66628958
66811189
+
DLX1
chr2
172084740
172089677
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-1286
chr22
20249145
20249165
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC115284.1
chr3
51961212
51974031
-
ZFAS1
chr20
49278178
49299600
+
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.