Entry Detail



General Information

Database ID:exR0085017
RNA Name:ZNF512B
RNA Type:mRNA
Chromosome:chr20
Starnd:-
Coordinate:
Start Site(bp):63956704End Site(bp):63969930
External Links:ENSG00000196700



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
ABHD10
chr3
111979010
111993368
+
ADCY6
chr12
48766194
48789037
-
AFDN
chr6
167826922
167972023
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-148a-3p
chr7
25949922
25949943
-
hsa-miR-34a-5p
chr1
9151735
9151756
-
hsa-miR-146a-5p
chr5
160485372
160485393
+
hsa-miR-184
chr15
79209840
79209861
+
hsa-miR-206
chr6
52144401
52144422
+
hsa-miR-34c-5p
chr11
111513451
111513473
+
hsa-miR-378a-3p
chr5
149732867
149732888
+
hsa-miR-148b-3p
chr12
54337278
54337299
+
hsa-miR-449a
chr5
55170586
55170607
-
hsa-miR-146b-5p
chr10
102436520
102436542
+
hsa-miR-625-5p
chr14
65471116
65471136
+
hsa-miR-663a
chr20
26208243
26208264
-
hsa-miR-449b-5p
chr5
55170706
55170727
-
hsa-miR-654-5p
chr14
101040234
101040255
+
hsa-miR-1294
chr5
154347153
154347174
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005562.1
chr17
30576464
30672789
+
AC009133.5
chr16
29808679
29812227
+
AD000090.1
chr19
35557956
35581954
+
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