Entry Detail



General Information

Database ID:exR0079793
RNA Name:PTMS
RNA Type:mRNA
Chromosome:chr12
Starnd:+
Coordinate:
Start Site(bp):6765516End Site(bp):6770952
External Links:ENSG00000159335



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
AARSD1
chr17
42950526
42964498
-
ABCG2
chr4
88090150
88231628
-
ABHD16A
chr6
31686955
31703356
-
ABHD8
chr19
17292131
17310236
-
ABI1
chr10
26746593
26861087
-
AC010422.3
chr19
12643831
12648397
-
AC011462.1
chr19
41350853
41425001
+
AC073508.2
chr17
40627356
40665141
-
AC073896.1
chr12
56285916
56316059
-
AC087289.3
chr17
75898645
75930129
-
AC131160.1
chr3
183815568
183884889
-
AC245033.1
chr15
82536788
82573194
-
ACIN1
chr14
23058564
23095614
-
ACO2
chr22
41469117
41528989
+
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACTN1
chr14
68874143
68979440
-
ACTR3
chr2
113890063
113962596
+
AHCY
chr20
34280268
34311802
-
AKAP13
chr15
85380571
85749358
+
AL136454.1
chr1
192716132
192716653
+
AL162417.1
chr9
133098121
133163914
-
ALDH16A1
chr19
49453225
49471050
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-185-5p
chr22
20033153
20033174
+
hsa-miR-423-5p
chr17
30117095
30117117
+
hsa-miR-708-5p
chr11
79402077
79402099
-
hsa-miR-1294
chr5
154347153
154347174
+
hsa-miR-1270
chr19
20399320
20399342
-
hsa-miR-1276
chr15
85770548
85770567
-
hsa-miR-3917
chr1
25906384
25906403
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC006064.5
chr12
6510275
6510522
+
AC006460.2
chr2
190607660
190649840
-
AC125807.2
chr12
3041437
3044950
+
AC245033.4
chr15
82533175
82540008
-
AL117378.1
chr6
131901963
131920565
+
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