Entry Detail



General Information

Database ID:exR0078406
RNA Name:PABPN1
RNA Type:mRNA
Chromosome:chr14
Starnd:+
Coordinate:
Start Site(bp):23321289End Site(bp):23326185
External Links:ENSG00000100836



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
ABCD1
chrX
153724856
153744755
+
ABRACL
chr6
139028745
139043302
+
AC010422.3
chr19
12643831
12648397
-
ACTB
chr7
5527148
5563784
-
ACY1
chr3
51983340
51989197
+
ADPRHL2
chr1
36088892
36093932
+
AGPAT1
chr6
32168212
32178096
-
AGPAT3
chr21
43865223
43987592
+
AGTRAP
chr1
11736084
11754802
+
AHCYL1
chr1
109984765
110023742
+
AKT1
chr14
104769349
104795751
-
AKT1S1
chr19
49869033
49878459
-
AL117339.5
chr10
38094368
38360098
+
AL136295.1
chr14
24189157
24213473
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-6835-3p
chr6
34240714
34240736
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC002310.1
chr16
30534752
30537149
+
AL132780.1
chr14
22929607
22956374
+
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