Entry Detail



General Information

Database ID:exR0081864
RNA Name:SNRNP70
RNA Type:mRNA
Chromosome:chr19
Starnd:+
Coordinate:
Start Site(bp):49085419End Site(bp):49108605
External Links:ENSG00000104852



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 SymbolChromosomeStart Site(bp)End Site(bp)Strand
ABHD11
chr7
73736094
73738867
-
AC005943.1
chr19
1578339
1605445
-
AC010422.3
chr19
12643831
12648397
-
AC104581.2
chr17
7925931
7930622
-
ACSL4
chrX
109624244
109733403
-
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ADAMTS3
chr4
72280969
72569221
-
AGRN
chr1
1020120
1056118
+
AHCY
chr20
34280268
34311802
-
AL359922.1
chr9
21802636
22029594
+
ALDH18A1
chr10
95605941
95656711
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC002470.2
chr22
20979462
20998121
+
AC007952.4
chr17
19112000
19112636
-
AC010245.2
chr5
75608817
75609983
+
AC012485.1
chr2
238231684
238255633
+
AC012615.1
chr19
1874871
1876169
-
AC025575.2
chr12
71047402
71118247
-
AC108134.2
chr16
3156736
3157483
-
AD000090.1
chr19
35557956
35581954
+
AL136985.3
chr1
58715609
58771295
+
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

PMID:NA
Title:NA
Author:NA
Journal:NA
Description:NA