Entry Detail



General Information

Database ID:exR0077718
RNA Name:NIPSNAP1
RNA Type:mRNA
Chromosome:chr22
Starnd:-
Coordinate:
Start Site(bp):29554808End Site(bp):29581327
External Links:ENSG00000184117



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
AKIP1
chr11
8911139
8920084
+
ACTB
chr7
5527148
5563784
-
AL358113.1
chr9
69035747
69255187
+
ACVR1B
chr12
51951699
51997078
+
ACTN4
chr19
38647649
38731589
+
AC006486.1
chr19
42234583
42255132
-
AC092143.1
chr16
89919165
89936092
+
AC009133.6
chr16
29812261
29820092
+
ADH5
chr4
99070978
99088801
-
AC010422.3
chr19
12643831
12648397
-
AL136454.1
chr1
192716132
192716653
+
AC091959.3
chr5
146203550
146339251
+
AC046185.1
chr17
63702845
63752097
-
AHCY
chr20
34280268
34311802
-
ALDH9A1
chr1
165662216
165698863
-
AC048338.1
chr12
122207779
122266423
-
ABT1
chr6
26596953
26600739
+
ACTG1
chr17
81509971
81523847
-
AC245033.1
chr15
82536788
82573194
-
AC131160.1
chr3
183815568
183884889
-
AFG3L2
chr18
12328944
12377227
-
AL121758.1
chr20
646626
675800
-
AC004922.1
chr7
99325879
99394653
+
ABHD5
chr3
43690108
43734371
+
AL022238.4
chr22
40346529
40410054
+
AC010463.1
chr19
17267418
17282966
+
AIP
chr11
67483026
67491103
+
AFDN
chr6
167826922
167972023
+
AC006064.6
chr12
6556886
6607367
-
AL121594.1
chr14
35122549
35317474
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-1286
chr22
20249145
20249165
-
hsa-miR-1321
chrX
85835832
85835849
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005899.4
chr17
32328441
32329395
+
AC006160.1
chr4
17586267
17614585
-
AC007952.4
chr17
19112000
19112636
-
AC016026.1
chr22
17787652
17811497
-
AC016876.2
chr17
7581964
7584086
-
AC026362.1
chr12
122975320
122982907
+
AC027031.2
chr8
106270144
106272902
+
AC091820.2
chr5
167287320
167294273
-
AC132217.1
chr11
2129121
2129964
-
AC245033.4
chr15
82533175
82540008
-
AD000090.1
chr19
35557956
35581954
+
AL021707.1
chr22
38739003
38749041
+
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