exRNAdisease

General Information

Database ID:

exR0000119

RNA Name:

ACADVL

RNA Type:

mRNA

Chromosome:

chr17

Starnd:

Coordinate:

Start Site(bp):

7217125

End Site(bp):

7225266

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
VKORC1	chr16	31090842	31095980	-
EIF2S1	chr14	67360151	67386516	+
OAF	chr11	120211032	120230334	+
TXN2	chr22	36467046	36481640	-
LRRC8A	chr9	128882112	128918039	+
ALKBH4	chr7	102456238	102464863	-
IGF2BP2	chr3	185643739	185825056	-
TMED7	chr5	115613210	115632992	-
ZNF782	chr9	96816269	96875623	-
RRP1B	chr21	43659560	43696079	+
ERI3	chr1	44221070	44355260	-
RAN	chr12	130872037	130877678	+
PXDN	chr2	1631887	1744852	-
PLEKHG4B	chr5	92151	189972	+
B2M	chr15	44711487	44718877	+
RBM8A	chr1	145917714	145927678	-
ZNRF2	chr7	30284597	30367689	+
SLC29A1	chr6	44219553	44234142	+
CANX	chr5	179678628	179731641	+
ZFP36L1	chr14	68787660	68796253	-
RBM23	chr14	22893204	22919182	-
EMP3	chr19	48321509	48330553	+
WDSUB1	chr2	159235793	159286799	-
GSTP1	chr11	67583742	67586656	+
FAM102A	chr9	127940582	127980989	-
UQCRHL	chr1	15807169	15809348	-
CD70	chr19	6583183	6604103	-
GOPC	chr6	117560269	117602542	-
RIPOR1	chr16	67518418	67546788	+
POLDIP3	chr22	42583721	42614962	-

miRNA targets:

circRNA targets:

lncRNA targets:

lncRNA Symbol	Chromosome	Start Site(bp)	End Site(bp)	Strand
AC098850.4	chr17	16788057	16816540	+
AD000090.1	chr19	35557956	35581954	+
PCAT14	chr22	23536881	23547797	+
STAG3L5P-PVRIG2P-PILRB	chr7	100336104	100367831	+
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.