Entry Detail



General Information

Database ID:exR0000046
RNA Name:ABCC1
RNA Type:mRNA
Chromosome:chr16
Starnd:+
Coordinate:
Start Site(bp):15949577End Site(bp):16143074
External Links:ENSG00000103222



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
TMED2
chr12
123584533
123598582
+
PCDHGB6
chr5
141408021
141512979
+
ADGRV1
chr5
90529344
91164437
+
CENPU
chr4
184694085
184734130
-
RFC5
chr12
118013588
118033130
+
BLVRB
chr19
40447765
40465764
-
MACF1
chr1
39081316
39487177
+
RPS5
chr19
58386400
58394806
+
SETD1A
chr16
30957754
30984664
+
CRTC3
chr15
90529923
90645345
+
PCDHGB1
chr5
141350102
141512979
+
PCDHGA8
chr5
141390157
141512979
+
NUCKS1
chr1
205712822
205750182
-
MT-ND4
chrMT
10760
12137
+
ASXL1
chr20
32358330
32439319
+
STRBP
chr9
123109500
123268586
-
UBE2S
chr19
55399745
55407788
-
ZDHHC4
chr7
6577434
6589374
+
NOP53
chr19
47745546
47757058
+
CD52
chr1
26317958
26320523
+
PSMB9
chr6
32844136
32859851
+
PCDHGA7
chr5
141382739
141512975
+
MT-CYB
chrMT
14747
15887
+
MT-ND5
chrMT
12337
14148
+
PCDHGA6
chr5
141373914
141512979
+
PCDHGA5
chr5
141364232
141512979
+
EIF4G2
chr11
10797050
10808940
-
MT-CO2
chrMT
7586
8269
+
SC5D
chr11
121292681
121313410
+
AC104109.3
chr5
134167170
134226071
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AD000090.1
chr19
35557956
35581954
+
AL136419.1
chr14
23969931
24051377
+
AC138932.3
chr16
14909887
14911345
-
ERVK13-1
chr16
2660348
2682379
-
GAS5
chr1
173858559
173868882
-
MIR663AHG
chr20
26167817
26251546
-
SNHG17
chr20
38419638
38435409
-
SNHG19
chr16
2154797
2155358
-
XIST
chrX
73820649
73852723
-
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.