Entry Detail



General Information

Database ID:exR0083486
RNA Name:TPT1
RNA Type:mRNA
Chromosome:chr13
Starnd:-
Coordinate:
Start Site(bp):45333471End Site(bp):45341370
External Links:ENSG00000133112



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
ABCB4
chr7
87401697
87480435
-
AK2
chr1
33007940
33080996
-
AKAP17A
chrX
1591604
1602520
+
AARSD1
chr17
42950526
42964498
-
AGBL2
chr11
47659591
47715389
-
AC092718.8
chr16
81022316
81096284
-
AKAP1
chr17
57085092
57121346
+
ADM
chr11
10305073
10307397
+
AL136454.1
chr1
192716132
192716653
+
AAGAB
chr15
67200667
67255195
-
ACAP1
chr17
7336529
7351477
+
AC105052.1
chr7
102582523
102642869
-
AC112229.3
chr2
110402934
110473075
-
AL121594.1
chr14
35122549
35317474
+
ABR
chr17
1003518
1229738
-
AC005258.1
chr19
2269525
2341172
+
AIFM2
chr10
70098223
70132934
-
ADK
chr10
74151202
74709963
+
AL121753.1
chr20
35267885
35280043
-
ACIN1
chr14
23058564
23095614
-
AC073082.1
chr2
48632291
48755724
-
AGO4
chr1
35808016
35857890
+
AC073508.2
chr17
40627356
40665141
-
AC120057.2
chr17
7240427
7244635
-
AC010323.1
chr19
8308283
8321379
-
ACBD3
chr1
226144679
226186741
-
ADAR
chr1
154582057
154628013
-
ACTR1B
chr2
97655939
97664044
-
ACAD8
chr11
134253495
134265855
+
ADD3
chr10
109996368
110135565
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-3648
chr21
8987026
8987046
+
hsa-miR-4426
chr1
192716333
192716349
+
hsa-miR-4700-5p
chr12
120723202
120723223
+
hsa-miR-4700-3p
chr12
120723233
120723258
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005062.1
chr7
19918981
20140453
-
AC007952.4
chr17
19112000
19112636
-
AC012321.1
chr16
69703065
69704652
+
AC012531.2
chr12
54017110
54035361
+
AC016876.2
chr17
7581964
7584086
-
AC019155.2
chr7
125229579
125264291
-
AC020663.1
chr16
4730115
4752565
-
AC026362.1
chr12
122975320
122982907
+
AC064802.1
chr8
114282067
114295839
+
AC079781.5
chr7
97851688
97972985
-
AC091564.7
chr11
6610883
6616594
-
AC113414.1
chr5
162424042
163437326
-
AC132217.1
chr11
2129121
2129964
-
AC242426.2
chr1
147172755
147295734
+
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
AL096870.2
chr14
24209646
24215987
-
AL121749.1
chr10
35604485
35608153
-
AL136295.6
chr14
24198433
24199090
+
AL137058.2
chr13
52600042
52642542
+
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