Entry Detail



General Information

Database ID:exR0000095
RNA Name:ABL1
RNA Type:mRNA
Chromosome:chr9
Starnd:+
Coordinate:
Start Site(bp):130713016End Site(bp):130887675
External Links:ENSG00000097007



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
CXCL12
chr10
44370165
44386493
-
ASXL2
chr2
25733753
25878487
-
TMEM115
chr3
50354750
50359521
-
STK11
chr19
1177558
1228431
+
TMEM214
chr2
27032910
27041694
+
NOP53
chr19
47745546
47757058
+
TSC2
chr16
2047967
2089491
+
CHTOP
chr1
153633982
153646306
+
ZMYM3
chrX
71239624
71255146
-
NUTF2
chr16
67846923
67872567
+
DBNDD2
chr20
45406057
45410610
+
PCGF2
chr17
38733898
38749817
-
TM9SF3
chr10
96518110
96587452
-
CHD4
chr12
6570082
6614524
-
AP000350.4
chr22
23862188
23895223
+
PLCG1
chr20
41136960
41196801
+
ACTB
chr7
5527148
5563784
-
ATE1
chr10
121740421
121928801
-
TSPAN6
chrX
100627108
100639991
-
TRAF2
chr9
136881912
136926607
+
HMGN4
chr6
26538366
26546933
+
ETS2
chr21
38805183
38824955
+
LAMP5
chr20
9514358
9530524
+
MOV10
chr1
112673141
112700746
+
GLUL
chr1
182381704
182392206
-
TPM4
chr19
16067021
16103002
+
SIGIRR
chr11
405716
417455
-
HNRNPD
chr4
82352498
82374503
-
CORO7
chr16
4354542
4425705
-
ZNF319
chr16
57994668
58000453
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-432-5p
chr14
100884496
100884518
+
hsa-miR-520a-5p
chr19
53690895
53690915
+
hsa-miR-650
chr22
22822791
22822811
+
hsa-miR-330-5p
chr19
45639049
45639070
-
hsa-miR-760
chr1
93846880
93846899
+
hsa-miR-1270
chr19
20399320
20399342
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007993.3
chr17
43914433
43923001
-
AC069281.2
chr7
100572232
100578700
-
NEAT1
chr11
65422774
65445540
+
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.