exRNAdisease

General Information

Database ID:

exR0007524

RNA Name:

KMT2D

RNA Type:

mRNA

Chromosome:

chr12

Starnd:

Coordinate:

Start Site(bp):

49018975

End Site(bp):

49059774

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
ABHD17A	chr19	1876810	1885547	-
ABHD2	chr15	89087459	89202355	+
ABL1	chr9	130713016	130887675	+
ABL2	chr1	179099330	179229684	-
AC009133.6	chr16	29812261	29820092	+
ACACA	chr17	37084992	37406836	-
ACIN1	chr14	23058564	23095614	-
ADARB1	chr21	45073853	45226560	+
ADCY6	chr12	48766194	48789037	-
AEN	chr15	88621337	88632281	+
AGPAT1	chr6	32168212	32178096	-
AGPAT3	chr21	43865223	43987592	+
AKT2	chr19	40230317	40285536	-
AL121845.3	chr20	63708864	63739103	+
AL139300.1	chr14	103562962	103685924	+
ALDH3A2	chr17	19648136	19685760	+

miRNA targets:

miRNA Symbol	Chromosome	Start Site(bp)	End Site(bp)	Strand
hsa-miR-7-5p	chr19	4770700	4770723	+
hsa-miR-34a-5p	chr1	9151735	9151756	-
hsa-miR-214-3p	chr1	172138816	172138837	-
hsa-miR-185-5p	chr22	20033153	20033174	+
hsa-miR-449a	chr5	55170586	55170607	-
hsa-miR-497-5p	chr17	7017979	7017999	-
hsa-miR-508-3p	chrX	147236945	147236967	-
hsa-miR-654-5p	chr14	101040234	101040255	+
hsa-miR-296-3p	chr20	58817626	58817647	-
hsa-miR-423-5p	chr17	30117095	30117117	+
hsa-miR-541-3p	chr14	101064548	101064569	+

circRNA targets:

lncRNA targets:

lncRNA Symbol	Chromosome	Start Site(bp)	End Site(bp)	Strand
AC002310.2	chr16	30572039	30583860	+
AC007383.2	chr2	206084605	206086564	+
AD000090.1	chr19	35557956	35581954	+
AL022157.1	chrX	57121662	57127243	+
AL121832.3	chr20	62402236	62405935	-
AL133523.1	chr14	100207407	100238555	-

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.