Entry Detail



General Information

Database ID:exR0075578
RNA Name:KHDRBS1
RNA Type:mRNA
Chromosome:chr1
Starnd:+
Coordinate:
Start Site(bp):32013868End Site(bp):32060850
External Links:ENSG00000121774



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
AC005258.1
chr19
2269525
2341172
+
AC006030.1
chr2
74211604
74363377
-
AC008764.4
chr19
16577642
16660115
-
AC022506.1
chr12
57517712
57520480
-
AC073508.2
chr17
40627356
40665141
-
ACACA
chr17
37084992
37406836
-
ACSL3
chr2
222860942
222944639
+
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ADAM17
chr2
9488486
9556732
-
ADAMTS19
chr5
129460281
129738683
+
ADAMTS2
chr5
179110853
179345461
-
ADCY8
chr8
130780301
131040909
-
AFAP1L2
chr10
114294824
114404756
-
AGL
chr1
99850361
99924023
+
AJUBA
chr14
22971177
22982551
-
AKAP17A
chrX
1591604
1602520
+
AL133352.1
chr10
100505628
100529881
-
ALDH7A1
chr5
126531200
126595362
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC021078.1
chr5
149494314
149504670
-
AC023509.1
chr12
53441741
53467528
+
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