Entry Detail



General Information

Database ID:exR0077833
RNA Name:NOP56
RNA Type:mRNA
Chromosome:chr20
Starnd:+
Coordinate:
Start Site(bp):2652593End Site(bp):2658393
External Links:ENSG00000101361



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
ABHD12
chr20
25294742
25390835
-
ABR
chr17
1003518
1229738
-
AC007192.1
chr19
18153158
18178117
+
AC010323.1
chr19
8308283
8321379
-
AC023055.1
chr12
55757275
55827546
-
ACAT2
chr6
159762045
159779112
+
ACLY
chr17
41866917
41930542
-
ACO2
chr22
41469117
41528989
+
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ADGRL2
chr1
81306160
81992436
+
AHCY
chr20
34280268
34311802
-
AKAP1
chr17
57085092
57121346
+
AKIRIN2
chr6
87674860
87702233
-
ALCAM
chr3
105366909
105576900
+
ALDOA
chr16
30064164
30070457
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007216.3
chr16
11881075
11882569
-
AC016876.2
chr17
7581964
7584086
-
AC023509.1
chr12
53441741
53467528
+
AC100861.1
chr8
23224471
23230926
+
AC245748.2
chr19
44392439
44448452
-
AGAP1-IT1
chr2
235505751
235507566
+
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