Entry Detail



General Information

Database ID:exR0000437
RNA Name:AKAP11
RNA Type:mRNA
Chromosome:chr13
Starnd:+
Coordinate:
Start Site(bp):42272152End Site(bp):42323261
External Links:ENSG00000023516



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
AC005670.2
chr17
46923133
47049932
+
MAPK1
chr22
21754500
21867680
-
ZNF100
chr19
21722771
21767579
-
CANX
chr5
179678628
179731641
+
TPI1
chr12
6867119
6870948
+
AIFM1
chrX
130129362
130165887
-
RAB3GAP2
chr1
220148293
220272453
-
TOP3A
chr17
18271428
18315007
-
NOC2L
chr1
944203
959309
-
DYRK1A
chr21
37365573
37526358
+
PSMB1
chr6
170535120
170553307
-
CSNK1A1
chr5
149492982
149551471
-
ZNF711
chrX
85244032
85273362
+
RPL15
chr3
23916545
23924374
+
C16orf91
chr16
1419752
1420756
-
ATP13A2
chr1
16985958
17011928
-
NPTX2
chr7
98617285
98629869
+
EDARADD
chr1
236348257
236502915
+
MAZ
chr16
29806106
29811164
+
SEC31A
chr4
82818509
82901166
-
HOMEZ
chr14
23272422
23299447
-
PIK3CB
chr3
138652698
138834928
-
HLA-DRB1
chr6
32578769
32589848
-
CCT8
chr21
29055805
29073797
-
FSCN1
chr7
5592816
5606655
+
RPL22
chr1
6185020
6209389
-
CXXC5
chr5
139647299
139683882
+
LDHA
chr11
18394560
18408425
+
CMPK1
chr1
47333797
47378839
+
KCMF1
chr2
84971093
85059472
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-130a-3p
chr11
57641252
57641273
+
hsa-miR-362-3p
chrX
50009005
50009026
+
hsa-miR-541-3p
chr14
101064548
101064569
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
MEG3
chr14
100779410
100861031
+
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.