Entry Detail



General Information

Database ID:exR0000096
RNA Name:ABL2
RNA Type:mRNA
Chromosome:chr1
Starnd:-
Coordinate:
Start Site(bp):179099330End Site(bp):179229684
External Links:ENSG00000143322



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
FBXL19
chr16
30923055
30948783
+
AC010422.3
chr19
12643831
12648397
-
SRPK2
chr7
105110704
105399308
-
KIAA0753
chr17
6578147
6640711
-
WDR74
chr11
62832342
62841809
-
RPL11
chr1
23691742
23696835
+
DNAH1
chr3
52316319
52400491
+
APBB3
chr5
140558268
140564781
-
HECTD4
chr12
112160188
112382439
-
RPS3
chr11
75399515
75422280
+
ARPP19
chr15
52547045
52569883
-
INPPL1
chr11
72223701
72239147
+
LRWD1
chr7
102464956
102473168
+
KPNA5
chr6
116681187
116741867
+
RPL12
chr9
127447674
127451406
-
KMT2D
chr12
49018975
49059774
-
UGDH
chr4
39498755
39528311
-
ZC4H2
chrX
64915802
65034713
-
PTMA
chr2
231706895
231713541
+
PDPN
chr1
13583465
13617957
+
CHCHD10
chr22
23765834
23768443
-
FUCA2
chr6
143494812
143511720
-
TEAD3
chr6
35473597
35497079
-
HNRNPM
chr19
8444767
8489114
+
ABL1
chr9
130713016
130887675
+
GLUL
chr1
182381704
182392206
-
UBR4
chr1
19074510
19210266
-
SSR2
chr1
156009048
156020951
-
RPL13A
chr19
49487554
49492308
+
IMP4
chr2
130342877
130347967
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-154-5p
chr14
101059769
101059790
+
hsa-miR-188-5p
chrX
50003517
50003537
+
hsa-miR-339-5p
chr7
1022990
1023012
-
hsa-miR-625-5p
chr14
65471116
65471136
+
hsa-miR-425-5p
chr3
49020199
49020221
-
hsa-miR-532-3p
chrX
50003204
50003225
+
hsa-miR-1224-5p
chr3
184241405
184241423
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
HIPK1-AS1
chr1
113924000
113929495
-
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.