Entry Detail



General Information

Database ID:exR0081406
RNA Name:SLC1A5
RNA Type:mRNA
Chromosome:chr19
Starnd:-
Coordinate:
Start Site(bp):46774883End Site(bp):46788594
External Links:ENSG00000105281



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
ABL1
chr9
130713016
130887675
+
AC005258.1
chr19
2269525
2341172
+
ACADVL
chr17
7217125
7225266
+
ACO2
chr22
41469117
41528989
+
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ADI1
chr2
3497366
3519531
-
AGRN
chr1
1020120
1056118
+
AHCY
chr20
34280268
34311802
-
AHCYL1
chr1
109984765
110023742
+
AIP
chr11
67483026
67491103
+
AL121845.3
chr20
63708864
63739103
+
ALDH7A1
chr5
126531200
126595362
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004687.1
chr17
58330884
58332508
-
AC007681.1
chr2
75154366
75189949
+
AC021078.1
chr5
149494314
149504670
-
AC027307.3
chr19
1440839
1441938
+
AC097478.1
chr4
89743792
89744305
+
AC132217.1
chr11
2129121
2129964
-
AC245014.3
chr1
145281116
145281462
+
AD000090.1
chr19
35557956
35581954
+
AL022157.1
chrX
57121662
57127243
+
AL049796.1
chr1
93847174
93848939
+
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