exRNAdisease

General Information

Database ID:

exR0075776

RNA Name:

KMT2D

RNA Type:

mRNA

Chromosome:

chr12

Starnd:

Coordinate:

Start Site(bp):

49018975

End Site(bp):

49059774

External Links:

Disease Information

Disease Name:	Fragile X Syndrome
Disease Category:	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH ID:	D005600
Type:	Diseases Category/Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Alias:	Fragile X Syndromes//Syndrome, Fragile X//Syndromes, Fragile X//Marker X Syndrome//Marker X Syndromes//Syndrome, Marker X//Syndromes, Marker X//Mental Retardation, X-Linked, Associated With Marxq28//X-Linked Mental Retardation and Macroorchidism//X Linked Mental Retardation and Macroorchidism//Fragile X Mental Retardation Syndrome//Martin-Bell Syndrome//Martin Bell Syndrome//Syndrome, Martin-Bell//Fra(X) Syndrome//FRAXE Syndrome//FRAXE Syndromes//Syndrome, FRAXE//Syndromes, FRAXE//Mental Retardation, X-Linked, Associated With Fragile Site Fraxe//Fragile X-F Mental Retardation Syndrome//Mar (X) Syndrome//FRAXA Syndrome//FRAXA Syndromes//Syndrome, FRAXA//Syndromes, FRAXA

Expression Detail

GEO ID:	GSE83556
Description:	Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions
Experimental Design:	Disease vs Control
Case Disease Type:	Fragile X Syndrome
Case Disease SubType:	NA
Case Sample:	Fragile X Syndrome
Control Sample:	Normal
Number of Case:	22
Number of Control:	18
Number of Samples:	40

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:	GSE83556
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:	RNA was extracted from 5-15 mL amniotic fluid supernatant (centrifugation at 350g, 4C, 10, min).
RNA Extract protocol:	All samples were processed using the Qiagen Circulating Nucleic Acid kit with an on-column DNase digestion step to remove genomic DNA. The RNA was then purified and concentrated with the RNeasy MinElute Clean up kit and eluted in RNasefree water.
RNA library preparation protocol:	RNA was converted to cDNA and amplified using the Ovation Pico WTA kit V2 and then purified with the QIAquick PCR Purification kit. Samples were labeled using the Encore Biotin Module (NuGEN, San Carlos, CA)Samples were labeled using the Encore Biotin Module (NuGEN, San Carlos, CA).

Reference