Entry Detail



General Information

Database ID:exR0079792
RNA Name:PTMA
RNA Type:mRNA
Chromosome:chr2
Starnd:+
Coordinate:
Start Site(bp):231706895End Site(bp):231713541
External Links:ENSG00000187514



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
AC131160.1
chr3
183815568
183884889
-
AL590764.2
chrX
71103987
71111575
-
ACTR2
chr2
65227753
65271253
+
AC006030.1
chr2
74211604
74363377
-
AC008763.3
chr19
7678501
7682854
+
AC120057.2
chr17
7240427
7244635
-
AC092647.5
chr7
55887277
55955239
+
ABHD5
chr3
43690108
43734371
+
ADRA2C
chr4
3766348
3768526
+
ABT1
chr6
26596953
26600739
+
ADNP2
chr18
80109262
80147523
+
AC139530.2
chr17
81703371
81720539
+
AL358113.1
chr9
69035747
69255187
+
AC068946.1
chr2
219075329
219170827
-
AKAP8L
chr19
15380050
15419141
-
AL603832.3
chr1
112702614
112711433
-
ACAA2
chr18
49782164
49813953
-
ALDH18A1
chr10
95605941
95656711
-
AC009690.1
chr15
72284727
72375981
-
AL136454.1
chr1
192716132
192716653
+
ACTR1B
chr2
97655939
97664044
-
AGO1
chr1
35869808
35930532
+
ADGRA3
chr4
22345071
22516066
-
ADAM17
chr2
9488486
9556732
-
ABCF3
chr3
184186023
184194012
+
AC093323.1
chr4
6663396
6676755
+
AKR1A1
chr1
45550543
45570049
+
ADO
chr10
62804720
62808479
+
AC068547.1
chr2
151802651
151973949
-
ABL2
chr1
179099330
179229684
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-483-5p
chr11
2134181
2134202
-
hsa-miR-25-5p
chr7
100093610
100093630
-
hsa-miR-1244
chr2
231713368
231713393
+
hsa-miR-3652
chr12
103930425
103930442
+
hsa-miR-3960
chr9
127785879
127785898
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005083.1
chr7
20217577
20221700
+
AC007743.1
chr2
56173534
56185870
-
AC007952.4
chr17
19112000
19112636
-
AC008771.1
chr5
80411231
80488095
-
AC009022.1
chr16
69976297
70065948
-
AC012485.1
chr2
238231684
238255633
+
AC012615.1
chr19
1874871
1876169
-
AC016876.2
chr17
7581964
7584086
-
AC018521.1
chr17
47945424
47981736
+
AC026362.1
chr12
122975320
122982907
+
AC061975.1
chr17
28263634
28266369
-
AC068473.5
chr18
79677287
79679358
-
AC092755.2
chr15
59688517
59689418
+
AC116407.1
chr17
32141226
32143135
-
AC245033.4
chr15
82533175
82540008
-
AL121992.1
chr1
15586136
15603626
-
AL137003.1
chr6
16764346
16766883
+
AL137782.1
chr13
75549773
75807120
+
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