Entry Detail



General Information

Database ID:exR0000357
RNA Name:AGAP1
RNA Type:mRNA
Chromosome:chr2
Starnd:+
Coordinate:
Start Site(bp):235494043End Site(bp):236131800
External Links:ENSG00000157985



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
KAT2A
chr17
42113111
42121367
-
LIN54
chr4
82909973
83012926
-
ENAH
chr1
225486835
225653142
-
OXSR1
chr3
38165089
38255484
+
NCOR2
chr12
124324415
124567589
-
LMAN2
chr5
177331567
177351668
-
NFATC2IP
chr16
28950807
28967097
+
C14orf132
chr14
96039324
96093889
+
HES6
chr2
238238267
238240662
-
SELENOW
chr19
47778585
47784686
+
HDAC3
chr5
141620876
141636849
-
CUL3
chr2
224470150
224585397
-
RPUSD1
chr16
784974
788397
-
SNX10
chr7
26291895
26374329
+
CNOT1
chr16
58519951
58629885
-
MEIS1
chr2
66433452
66573869
+
GIGYF2
chr2
232697299
232860575
+
TEX264
chr3
51662693
51704323
+
KIF1A
chr2
240713761
240821036
-
RPS27A
chr2
55231903
55235853
+
GNAS
chr20
58839718
58911192
+
TRAIP
chr3
49828601
49856574
-
GDAP2
chr1
117863485
117929621
-
DYNC1LI1
chr3
32525974
32570858
-
SLX1A
chr16
30193887
30197561
+
LRBA
chr4
150264435
151015727
-
GAPDH
chr12
6534512
6538374
+
PSMD7
chr16
74296814
74306288
+
SIPA1L2
chr1
232397965
232561558
-
HMGA2
chr12
65824131
65966295
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC022400.3
chr10
73674295
73730466
-
AGAP1-IT1
chr2
235505751
235507566
+
AGAP11
chr10
86970741
87010126
+
AL136982.1
chr10
86992406
87010203
+
NOP14-AS1
chr4
2934882
2961738
+
SLX1A-SULT1A3
chr16
30193892
30204310
+
TMEM147-AS1
chr19
35540738
35546029
-
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.