Entry Detail



General Information

Database ID:exR0080578
RNA Name:RPL17
RNA Type:mRNA
Chromosome:chr18
Starnd:-
Coordinate:
Start Site(bp):49488453End Site(bp):49492523
External Links:ENSG00000265681



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
AAR2
chr20
36236459
36270918
+
ABCC1
chr16
15949577
16143074
+
ABHD2
chr15
89087459
89202355
+
ABL1
chr9
130713016
130887675
+
AC018523.2
chr11
14493783
14520344
-
AC020909.1
chr19
50415799
50428409
+
AC138811.2
chr16
18788063
18801519
-
ACO1
chr9
32384603
32454769
+
ACTG1
chr17
81509971
81523847
-
AHCY
chr20
34280268
34311802
-
AK3
chr9
4709556
4742043
-
AKIRIN1
chr1
38991276
39006059
+
AKR1A1
chr1
45550543
45570049
+
AKT2
chr19
40230317
40285536
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-92a-3p
chrX
134169544
134169565
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC021078.1
chr5
149494314
149504670
-
AC023509.1
chr12
53441741
53467528
+
AC040162.3
chr16
67882461
67886367
+
AC068338.3
chr15
75346744
75347161
-
AC093152.1
chr1
222815064
222994906
+
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