Entry Detail



General Information

Database ID:exR0078394
RNA Name:P4HB
RNA Type:mRNA
Chromosome:chr17
Starnd:-
Coordinate:
Start Site(bp):81843161End Site(bp):81860624
External Links:ENSG00000185624



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
ABCB7
chrX
75051048
75156732
-
ABCF2
chr7
151207837
151227166
-
ABLIM1
chr10
114431113
114768061
-
ABR
chr17
1003518
1229738
-
AC010132.3
chr7
42909273
42932174
-
AC015813.2
chr17
57989038
58007246
-
AC087289.3
chr17
75898645
75930129
-
ACAD11
chr3
132558138
132660082
-
ACLY
chr17
41866917
41930542
-
ACOT9
chrX
23701055
23766475
-
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACTR3
chr2
113890063
113962596
+
ADD2
chr2
70607618
70768225
-
ADORA2A
chr22
24417879
24442357
+
ADPRHL2
chr1
36088892
36093932
+
ADSL
chr22
40346500
40390463
+
AGRN
chr1
1020120
1056118
+
AHCY
chr20
34280268
34311802
-
AK2
chr1
33007940
33080996
-
AKR1B1
chr7
134442356
134459284
-
AKT1
chr14
104769349
104795751
-
AL022238.4
chr22
40346529
40410054
+
AL121758.1
chr20
646626
675800
-
AL590764.2
chrX
71103987
71111575
-
ALDH1B1
chr9
38392702
38398661
+
ALDOA
chr16
30064164
30070457
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC055860.1
chr11
18000542
18022931
-
AC060780.1
chr17
43148368
43171037
-
AD000090.1
chr19
35557956
35581954
+
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