Entry Detail



General Information

Database ID:exR0079064
RNA Name:PLCG2
RNA Type:mRNA
Chromosome:chr16
Starnd:+
Coordinate:
Start Site(bp):81739097End Site(bp):81962685
External Links:ENSG00000197943



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
AC000093.1
chr22
19717220
19724772
+
AC005943.1
chr19
1578339
1605445
-
AC009133.6
chr16
29812261
29820092
+
AC091167.2
chr15
90249556
90272208
+
AC137834.1
chr12
57249609
57296484
-
AC138811.2
chr16
18788063
18801519
-
AC245033.1
chr15
82536788
82573194
-
ACTB
chr7
5527148
5563784
-
ADCY9
chr16
3953387
4116442
-
AGO1
chr1
35869808
35930532
+
AHCY
chr20
34280268
34311802
-
AKAP1
chr17
57085092
57121346
+
AL365205.1
chr6
41780349
41790141
+
ALDH1A2
chr15
57953424
58497866
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-6506-3p
chr16
15611031
15611052
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007952.4
chr17
19112000
19112636
-
AC067930.1
chr8
143579636
143580670
+
AC067930.4
chr8
143573490
143577397
+
AC091564.7
chr11
6610883
6616594
-
AC099524.1
chr16
81738248
81767868
+
AC109460.3
chr16
28974804
28990775
+
AD000090.1
chr19
35557956
35581954
+
AL096870.2
chr14
24209646
24215987
-
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