Entry Detail



General Information

Database ID:exR0083046
RNA Name:TMBIM6
RNA Type:mRNA
Chromosome:chr12
Starnd:+
Coordinate:
Start Site(bp):49707725End Site(bp):49764934
External Links:ENSG00000139644



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
AKAP12
chr6
151239967
151358559
+
AGA
chr4
177430774
177442437
-
ACTB
chr7
5527148
5563784
-
AATF
chr17
36948954
37056871
+
ACBD5
chr10
27195214
27242130
-
ADAMTS1
chr21
26835755
26845409
-
AL353588.1
chr6
44273194
44378957
+
AC092647.5
chr7
55887277
55955239
+
AC026464.4
chr16
69299682
69322700
+
AGO2
chr8
140520156
140635633
-
ABCG2
chr4
88090150
88231628
-
AFF1
chr4
86935002
87141054
+
AC004997.1
chr22
30285238
30299482
-
AL139353.1
chr14
31334312
31457441
-
AC048338.1
chr12
122207779
122266423
-
AIF1L
chr9
131096476
131123152
+
AC078927.1
chr12
66123917
66169985
-
ACSF2
chr17
50426158
50474845
+
ADAM22
chr7
87934143
88202889
+
ABHD8
chr19
17292131
17310236
-
ALDOA
chr16
30064164
30070457
+
ACTG1
chr17
81509971
81523847
-
AHCY
chr20
34280268
34311802
-
ACO2
chr22
41469117
41528989
+
AC010422.3
chr19
12643831
12648397
-
AASDHPPT
chr11
106075501
106098699
+
ACTL6A
chr3
179562886
179588407
+
AL162417.1
chr9
133098121
133163914
-
AHNAK
chr11
62433542
62556235
-
ADRM1
chr20
62302093
62308862
+
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
AC009446.1
chr8
71675300
71702786
+
AC012360.3
chr2
105334027
105337475
-
AC018521.1
chr17
47945424
47981736
+
AC020978.7
chr16
68224713
68227734
+
AC022140.1
chr5
25404733
25445925
-
AC023509.1
chr12
53441741
53467528
+
AD000090.1
chr19
35557956
35581954
+
AF129075.2
chr21
29058073
29060095
-
AL021707.3
chr22
38734730
38738990
+
AL049543.1
chr6
28587378
28591747
+
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