Entry Detail



General Information

Database ID:exR0081876
RNA Name:SNRPN
RNA Type:mRNA
Chromosome:chr15
Starnd:+
Coordinate:
Start Site(bp):24823637End Site(bp):24978723
External Links:ENSG00000128739



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
ABCC4
chr13
95019835
95301475
-
ABRACL
chr6
139028745
139043302
+
AC006064.6
chr12
6556886
6607367
-
AC012254.2
chr18
47108188
47176345
-
AC068946.2
chr2
219209772
219222738
-
AC124312.1
chr15
24955034
25000276
+
AC137834.1
chr12
57249609
57296484
-
ACTB
chr7
5527148
5563784
-
ACTN4
chr19
38647649
38731589
+
ACTR1A
chr10
102461881
102502712
-
ACTR1B
chr2
97655939
97664044
-
ACVR1B
chr12
51951699
51997078
+
ACVR2B
chr3
38453890
38493142
+
AGO3
chr1
35930718
36072500
+
AKAP17A
chrX
1591604
1602520
+
AL136454.1
chr1
192716132
192716653
+
ALDH1B1
chr9
38392702
38398661
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC012467.2
chr3
53858994
53861576
-
AC067852.2
chr17
42552436
42554748
-
AC092490.1
chr12
8788253
8795789
+
AC106864.1
chr4
112693047
112706810
-
AL022311.1
chr22
37876148
37895563
+
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