Entry Detail



General Information

Database ID:exR0000090
RNA Name:ABHD8
RNA Type:mRNA
Chromosome:chr19
Starnd:-
Coordinate:
Start Site(bp):17292131End Site(bp):17310236
External Links:ENSG00000127220



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
ITM2C
chr2
230864639
230879248
+
TUBA3C
chr13
19173772
19181824
-
CAP1
chr1
40040233
40072649
+
HOXB5
chr17
48591257
48593961
-
RPLP2
chr11
809965
812880
+
ARHGEF7
chr13
111114559
111305737
+
NAP1L1
chr12
76036585
76084958
-
DUSP2
chr2
96143169
96145440
-
CHST11
chr12
104455295
104762014
+
IGFBP2
chr2
216632828
216664436
+
GALNS
chr16
88813734
88856970
-
RPS19
chr19
41860255
41872925
+
PTMS
chr12
6765516
6770952
+
EMC10
chr19
50476400
50490870
+
EIF4G2
chr11
10797050
10808940
-
DDX17
chr22
38483438
38507660
-
LRRC14
chr8
144517992
144525172
+
PTK7
chr6
43076307
43161719
+
FSTL1
chr3
120392293
120450993
-
DNASE2
chr19
12875209
12881466
-
ANXA11
chr10
80150889
80205572
-
UCHL1
chr4
41256413
41268455
+
S100A10
chr1
151982915
151993859
-
CITED4
chr1
40861054
40862363
-
DBN1
chr5
177456608
177474401
-
PKM
chr15
72199029
72231822
-
MDK
chr11
46380756
46383837
+
GALNT17
chr7
71132144
71713600
+
ZFP91
chr11
58579063
58621550
+
RPS28
chr19
8321158
8323340
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC069281.2
chr7
100572232
100578700
-
AD000090.1
chr19
35557956
35581954
+
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.