Entry Detail



General Information

Database ID:exR0079305
RNA Name:POU5F1
RNA Type:mRNA
Chromosome:chr6
Starnd:-
Coordinate:
Start Site(bp):31164337End Site(bp):31180731
External Links:ENSG00000204531



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
ABCD4
chr14
74285269
74303055
-
ABCE1
chr4
145098288
145129524
+
ABHD14A-ACY1
chr3
51974706
51989183
+
ABL1
chr9
130713016
130887675
+
AC008764.1
chr19
16479067
16628204
-
AC008982.1
chr19
38817471
38840178
-
AC018512.1
chr15
43772617
43799133
-
AC023055.1
chr12
55757275
55827546
-
AC068946.2
chr2
219209772
219222738
-
AC073508.2
chr17
40627356
40665141
-
AC124312.1
chr15
24955034
25000276
+
AC245033.1
chr15
82536788
82573194
-
ACO2
chr22
41469117
41528989
+
ACOX1
chr17
75941507
75979177
-
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACTN4
chr19
38647649
38731589
+
ACTR3B
chr7
152759749
152855378
+
ACY1
chr3
51983340
51989197
+
ADAMTS7
chr15
78759206
78811464
-
ADAR
chr1
154582057
154628013
-
AEN
chr15
88621337
88632281
+
AFDN
chr6
167826922
167972023
+
AHCY
chr20
34280268
34311802
-
AIMP2
chr7
6009255
6023834
+
AJUBA
chr14
22971177
22982551
-
AKT1
chr14
104769349
104795751
-
AL121758.1
chr20
646626
675800
-
ALAD
chr9
113386312
113401290
-
ALDH1B1
chr9
38392702
38398661
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004846.1
chr14
73242651
73245979
-
AC016876.2
chr17
7581964
7584086
-
AC020663.1
chr16
4730115
4752565
-
AC126365.1
chr17
20788071
20789584
+
AC132217.1
chr11
2129121
2129964
-
AC245033.4
chr15
82533175
82540008
-
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