Entry Detail



General Information

Database ID:exR0077230
RNA Name:MTPN
RNA Type:mRNA
Chromosome:chr7
Starnd:-
Coordinate:
Start Site(bp):135926760End Site(bp):135977359
External Links:ENSG00000105887



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
+
ABHD2
chr15
89087459
89202355
+
ABRACL
chr6
139028745
139043302
+
AC012184.2
chr16
70299194
70372582
+
AC092143.1
chr16
89919165
89936092
+
AC245033.1
chr15
82536788
82573194
-
ACLY
chr17
41866917
41930542
-
ACO2
chr22
41469117
41528989
+
ADGRL2
chr1
81306160
81992436
+
ADORA2A
chr22
24417879
24442357
+
AFG3L2
chr18
12328944
12377227
-
ALDH9A1
chr1
165662216
165698863
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-362-3p
chrX
50009005
50009026
+
hsa-miR-632
chr17
32350169
32350187
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC002310.1
chr16
30534752
30537149
+
AC007780.1
chr17
68413623
68524949
+
AC026461.1
chr16
56682470
56687807
+
AC064802.1
chr8
114282067
114295839
+
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