exRNAdisease

General Information

Database ID:

exR0000441

RNA Name:

AKAP17A

RNA Type:

mRNA

Chromosome:

chrX

Starnd:

Coordinate:

Start Site(bp):

1591604

End Site(bp):

1602520

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
LASP1	chr17	38869859	38921770	+
TKT	chr3	53224712	53256052	-
RPL13	chr16	89560657	89566828	+
RAB11FIP3	chr16	425649	523011	+
UNCX	chr7	1232872	1237326	+
ARFRP1	chr20	63698642	63708025	-
UBA5	chr3	132654446	132678097	+
FDPS	chr1	155308748	155320666	+
BSG	chr19	571277	583493	+
CSDE1	chr1	114716913	114758676	-
PI4KA	chr22	20707691	20859417	-
FBXW5	chr9	136940435	136944738	-
MAP3K15	chrX	19360056	19515261	-
PGM1	chr1	63593411	63660245	+
NOA1	chr4	56963350	56977606	-
CDC42EP5	chr19	54465026	54473296	-
HNRNPA1P48	chr16	51553436	51647132	+
TOB1	chr17	50862223	50867978	-
TMUB1	chr7	151081085	151083493	-
GNAS	chr20	58839718	58911192	+
EEF2	chr19	3976056	3985463	-
TMSB4X	chrX	12975110	12977227	+
MATR3	chr5	139273752	139331671	+
SIGMAR1	chr9	34634722	34637809	-
HLA-DMA	chr6	32948613	32969094	-
ZNF48	chr16	30378106	30400108	+
STARD3NL	chr7	38178222	38230671	+
SNRPN	chr15	24823637	24978723	+
TJP2	chr9	69121264	69274615	+
CLIC4	chr1	24745382	24844321	+

miRNA targets:

circRNA targets:

lncRNA targets:

lncRNA Symbol	Chromosome	Start Site(bp)	End Site(bp)	Strand
AC124068.2	chr15	89335053	89336161	+
AD000090.1	chr19	35557956	35581954	+
AL122017.1	chr6	81527102	81534915	-
BX284668.2	chr1	16870945	16883659	+
ZNF236-DT	chr18	76794732	76822295	-

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.