Entry Detail



General Information

Database ID:exR0000469
RNA Name:AKT3
RNA Type:mRNA
Chromosome:chr1
Starnd:-
Coordinate:
Start Site(bp):243488233End Site(bp):243851079
External Links:ENSG00000117020



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
NUP107
chr12
68686951
68745809
+
FUCA1
chr1
23845077
23868294
-
HNRNPK
chr9
83968083
83980616
-
RPL37
chr5
40825262
40835222
-
EDEM2
chr20
35115364
35147336
-
PRDX6
chr1
173477330
173488815
+
HLA-C
chr6
31268749
31272130
-
MAP3K7
chr6
90513573
90587072
-
SRSF4
chr1
29147743
29181900
-
IPMK
chr10
58191517
58267894
-
POLR2F
chr22
37952607
38041915
+
IST1
chr16
71845996
71931199
+
ID1
chr20
31605283
31606515
+
L1TD1
chr1
62194849
62212328
+
SF3B1
chr2
197388515
197435091
-
SDCCAG8
chr1
243256034
243500091
+
POLR1D
chr13
27620742
27744237
+
ESRP1
chr8
94641074
94707466
+
LAPTM4B
chr8
97775057
97853013
+
AKT2
chr19
40230317
40285536
-
STK4
chr20
44966479
45080021
+
HNRNPL
chr19
38836388
38852347
-
PAPOLA
chr14
96501433
96567111
+
PKN1
chr19
14433053
14471867
+
IL6R
chr1
154405193
154469450
+
TIMM10B
chr11
6481501
6484681
+
RPL13A
chr19
49487554
49492308
+
RTN4R
chr22
20241415
20283246
-
ANKFY1
chr17
4163821
4263995
-
SGSH
chr17
80206716
80220923
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
RMRP
chr9
35657751
35658018
-
SNHG1
chr11
62851984
62855953
-
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.