Entry Detail



General Information

Database ID:exR0081758
RNA Name:SMARCC1
RNA Type:mRNA
Chromosome:chr3
Starnd:-
Coordinate:
Start Site(bp):47585269End Site(bp):47782106
External Links:ENSG00000173473



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
AC009133.6
chr16
29812261
29820092
+
AC010422.3
chr19
12643831
12648397
-
AC116366.3
chr5
132410832
132646079
+
AC120057.2
chr17
7240427
7244635
-
AC138811.2
chr16
18788063
18801519
-
AC245033.1
chr15
82536788
82573194
-
ACSL3
chr2
222860942
222944639
+
ACTR10
chr14
58200080
58235636
+
ADAM10
chr15
58588809
58749791
-
AFF4
chr5
132875395
132963634
-
AGAP3
chr7
151085831
151144436
+
AHCYL1
chr1
109984765
110023742
+
AJUBA
chr14
22971177
22982551
-
AKAP1
chr17
57085092
57121346
+
AKAP9
chr7
91940867
92110673
+
AL136454.1
chr1
192716132
192716653
+
AL358113.1
chr9
69035747
69255187
+
ALDH9A1
chr1
165662216
165698863
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-1321
chrX
85835832
85835849
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC016876.2
chr17
7581964
7584086
-
AC067930.1
chr8
143579636
143580670
+
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