Entry Detail



General Information

Database ID:exR0078800
RNA Name:PFN1
RNA Type:mRNA
Chromosome:chr17
Starnd:-
Coordinate:
Start Site(bp):4945652End Site(bp):4949061
External Links:ENSG00000108518



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
AFAP1
chr4
7758714
7939926
-
ADGRA3
chr4
22345071
22516066
-
AGFG1
chr2
227472152
227561214
+
AJM1
chr9
136844415
136848801
+
ADD1
chr4
2843857
2930076
+
AC099489.1
chr16
11359845
11527245
-
AL139011.2
chr1
160216800
160285130
-
ACOX2
chr3
58505136
58537283
-
AC139530.2
chr17
81703371
81720539
+
AC104109.3
chr5
134167170
134226071
-
AC099811.2
chr17
42119674
42154916
-
AC092143.1
chr16
89919165
89936092
+
ALDOA
chr16
30064164
30070457
+
ACSS2
chr20
34872146
34927962
+
ABCD4
chr14
74285269
74303055
-
AGA
chr4
177430774
177442437
-
AC073508.2
chr17
40627356
40665141
-
AIFM1
chrX
130129362
130165887
-
AL121594.1
chr14
35122549
35317474
+
AC005258.1
chr19
2269525
2341172
+
AGRN
chr1
1020120
1056118
+
AGPAT5
chr8
6708642
6761503
+
ABCG2
chr4
88090150
88231628
-
ACTA1
chr1
229431245
229434098
-
ADAM10
chr15
58588809
58749791
-
AGPAT1
chr6
32168212
32178096
-
AHCY
chr20
34280268
34311802
-
ACTB
chr7
5527148
5563784
-
AC004922.1
chr7
99325879
99394653
+
AC008763.3
chr19
7678501
7682854
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-320a-3p
chr8
22244975
22244996
-
hsa-miR-330-3p
chr19
45639009
45639031
-
hsa-miR-320b
chr1
224257049
224257070
-
hsa-miR-320c
chr18
24321716
24321735
+
hsa-miR-320d
chr13
40727828
40727846
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC004687.1
chr17
58330884
58332508
-
AC016876.2
chr17
7581964
7584086
-
AC020663.1
chr16
4730115
4752565
-
AC022031.2
chr18
55589904
55839184
+
AC023509.1
chr12
53441741
53467528
+
AC026362.1
chr12
122975320
122982907
+
AC060780.1
chr17
43148368
43171037
-
AC109460.3
chr16
28974804
28990775
+
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
AL023653.1
chrX
129794994
129796963
+
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