Entry Detail



General Information

Database ID:exR0082194
RNA Name:SRSF1
RNA Type:mRNA
Chromosome:chr17
Starnd:-
Coordinate:
Start Site(bp):58000919End Site(bp):58007346
External Links:ENSG00000136450



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
AASS
chr7
122073549
122144255
-
ABCA7
chr19
1039997
1065572
+
ABHD14A-ACY1
chr3
51974706
51989183
+
AC010422.3
chr19
12643831
12648397
-
AC013394.1
chr15
92883413
92949230
+
AC015813.2
chr17
57989038
58007246
-
AC027796.3
chr17
3585149
3636249
-
AC073082.1
chr2
48632291
48755724
-
AC120057.2
chr17
7240427
7244635
-
AC245033.1
chr15
82536788
82573194
-
ACBD6
chr1
180269653
180502954
-
ACPP
chr3
132317369
132368298
+
ACTB
chr7
5527148
5563784
-
ACTL6A
chr3
179562886
179588407
+
ACTR3
chr2
113890063
113962596
+
ACY1
chr3
51983340
51989197
+
ADPGK
chr15
72751369
72785846
-
AEN
chr15
88621337
88632281
+
AGPAT5
chr8
6708642
6761503
+
AHCY
chr20
34280268
34311802
-
AHSA1
chr14
77457870
77469472
+
AKT2
chr19
40230317
40285536
-
ALDH6A1
chr14
74056847
74084492
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-18a-5p
chr13
91350756
91350778
+
hsa-miR-7705
chr8
100703002
100703024
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC015813.1
chr17
57989039
57994850
-
AC025575.2
chr12
71047402
71118247
-
AC132217.1
chr11
2129121
2129964
-
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