Entry Detail



General Information

Database ID:exR0078806
RNA Name:PGAM1
RNA Type:mRNA
Chromosome:chr10
Starnd:+
Coordinate:
Start Site(bp):97426191End Site(bp):97433444
External Links:ENSG00000171314



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
AASDHPPT
chr11
106075501
106098699
+
ABCB6
chr2
219209772
219218994
-
ABHD17C
chr15
80679684
80755621
+
ABI2
chr2
203328239
203447728
+
ABL2
chr1
179099330
179229684
-
AC007846.2
chr17
5772926
6080792
+
AC073082.1
chr2
48632291
48755724
-
AC091959.3
chr5
146203550
146339251
+
AC110275.1
chr8
43018424
43077334
+
AC139530.2
chr17
81703371
81720539
+
AC245033.1
chr15
82536788
82573194
-
ACACA
chr17
37084992
37406836
-
ACAT2
chr6
159762045
159779112
+
ACBD7
chr10
15075475
15088776
-
ACTB
chr7
5527148
5563784
-
ACTR1A
chr10
102461881
102502712
-
ACTR1B
chr2
97655939
97664044
-
ADA
chr20
44619522
44652233
-
ADAR
chr1
154582057
154628013
-
ADD2
chr2
70607618
70768225
-
AFAP1
chr4
7758714
7939926
-
AGBL5
chr2
27042364
27070622
+
AKT2
chr19
40230317
40285536
-
AL024498.2
chr6
10747794
10930423
+
AL157392.5
chr10
13610047
13655929
+
ALDH18A1
chr10
95605941
95656711
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-423-5p
chr17
30117095
30117117
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC009022.1
chr16
69976297
70065948
-
AC026461.1
chr16
56682470
56687807
+
AC245033.4
chr15
82533175
82540008
-
AL022311.1
chr22
37876148
37895563
+
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