exRNAdisease

General Information

Database ID:

exR0000448

RNA Name:

AKAP8L

RNA Type:

mRNA

Chromosome:

chr19

Starnd:

Coordinate:

Start Site(bp):

15380050

End Site(bp):

15419141

External Links:

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 Symbol	Chromosome	Start Site(bp)	End Site(bp)	Strand
AL357673.1	chr1	54132686	54200073	-
KRT8	chr12	52897187	52949954	-
C6orf136	chr6	30647039	30653210	+
NCKAP1L	chr12	54497752	54548243	+
OS9	chr12	57693955	57721557	+
STX12	chr1	27773219	27824443	+
MBD3	chr19	1573596	1592865	-
RPN1	chr3	128619969	128681075	-
PTP4A1	chr6	63521746	63583436	+
ACTN4	chr19	38647649	38731589	+
CENPH	chr5	69189574	69210357	+
RPL13	chr16	89560657	89566828	+
PTMA	chr2	231706895	231713541	+
MLST8	chr16	2204248	2209453	+
FNTA	chr8	43034194	43085788	+
MCM2	chr3	127598410	127622436	+
GRB2	chr17	75318076	75405709	-
CPSF1	chr8	144393229	144409335	-
DBN1	chr5	177456608	177474401	-
EIF3A	chr10	119033670	119080823	-
RPL13A	chr19	49487554	49492308	+
GALNT2	chr1	230057990	230282122	+
TPT1	chr13	45333471	45341370	-
NOMO1	chr16	14833721	14896157	+
NAA30	chr14	57390544	57415906	+
NDUFB8	chr10	100523740	100530000	-
RPL37A	chr2	216498825	216579180	+
STK25	chr2	241492670	241509730	-
LIN28A	chr1	26410817	26429728	+
APBA3	chr19	3750772	3761692	-

miRNA targets:

circRNA targets:

lncRNA targets:

lncRNA Symbol	Chromosome	Start Site(bp)	End Site(bp)	Strand
AL021368.4	chr6	57919912	57961382	-
MALAT1	chr11	65497688	65506516	+
RMRP	chr9	35657751	35658018	-

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.