Entry Detail



General Information

Database ID:exR0080640
RNA Name:RPS12
RNA Type:mRNA
Chromosome:chr6
Starnd:+
Coordinate:
Start Site(bp):132814569End Site(bp):132817564
External Links:ENSG00000112306



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
ABCB7
chrX
75051048
75156732
-
AC004922.1
chr7
99325879
99394653
+
AC005258.1
chr19
2269525
2341172
+
AC006064.6
chr12
6556886
6607367
-
AC023055.1
chr12
55757275
55827546
-
AC091167.2
chr15
90249556
90272208
+
ACSF2
chr17
50426158
50474845
+
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACTN4
chr19
38647649
38731589
+
ACTR3B
chr7
152759749
152855378
+
ADA2
chr22
17178790
17258235
-
ADCY1
chr7
45574140
45723116
+
ADIPOR1
chr1
202940826
202958572
-
ADORA2A
chr22
24417879
24442357
+
AGPAT3
chr21
43865223
43987592
+
AHCYL1
chr1
109984765
110023742
+
AIMP2
chr7
6009255
6023834
+
AK1
chr9
127866486
127877675
-
AK2
chr1
33007940
33080996
-
AKIRIN1
chr1
38991276
39006059
+
AL121753.1
chr20
35267885
35280043
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-492
chr12
94834427
94834449
+
hsa-miR-3654
chr7
133034860
133034878
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005618.1
chr5
141326210
141329357
+
AC105105.1
chr18
58535415
58538552
+
AF106564.1
chr8
24912165
24914717
-
AL031985.3
chr1
40464319
40466767
+
AL132780.1
chr14
22929607
22956374
+
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