Entry Detail



General Information

Database ID:exR0000439
RNA Name:AKAP13
RNA Type:mRNA
Chromosome:chr15
Starnd:+
Coordinate:
Start Site(bp):85380571End Site(bp):85749358
External Links:ENSG00000170776



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
ZFAND6
chr15
80059568
80138393
+
FNBP1
chr9
129887187
130043194
-
IPO13
chr1
43946950
43968022
+
NUDT3
chr6
34279679
34392669
-
CXXC4
chr4
104468308
104494901
-
RPS4X
chrX
72255679
72277248
-
OSTF1
chr9
75088514
75147265
+
CLEC16A
chr16
10944564
11182186
+
HPS3
chr3
149129638
149173732
+
GCSAM
chr3
112120839
112133270
-
CAPN1
chr11
65180566
65212006
+
RBM3
chrX
48574449
48581162
+
GOLGA8B
chr15
34525207
34588503
-
HAUS5
chr19
35612735
35625355
+
CENPA
chr2
26764289
26801067
+
CTDNEP1
chr17
7243591
7252491
-
RBM47
chr4
40423267
40630875
-
PTEN
chr10
87863625
87971930
+
ZNF277
chr7
112206695
112343934
+
SLC17A9
chr20
62952707
62969585
+
SNTB2
chr16
69187129
69309052
+
CGGBP1
chr3
88051944
88149885
-
ARIH1
chr15
72474330
72602987
+
ST6GALNAC6
chr9
127885321
127905408
-
ATP5PF
chr21
25716503
25735673
-
PSMG1
chr21
39174769
39183488
-
PCYT2
chr17
81900965
81911464
-
CHD3
chr17
7884796
7912760
+
ZNF354B
chr5
178859953
178888122
+
TMCC2
chr1
205227946
205285632
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-449a
chr5
55170586
55170607
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC011603.2
chr12
49090208
49093312
+
AC016590.2
chr19
37337236
37337743
+
AC245014.3
chr1
145281116
145281462
+
AD000090.1
chr19
35557956
35581954
+
AL157935.2
chr9
127934503
127940952
+
AL355075.4
chr14
20343048
20343685
-
LINC01783
chr1
16533886
16536172
-
LINC02249
chr15
30195809
30217552
+
TMEM99
chr17
40819106
40836270
+
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.