Entry Detail



General Information

Database ID:exR0077413
RNA Name:NACC1
RNA Type:mRNA
Chromosome:chr19
Starnd:+
Coordinate:
Start Site(bp):13116862End Site(bp):13141147
External Links:ENSG00000160877



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
AAGAB
chr15
67200667
67255195
-
ABCF1
chr6
30571393
30597179
+
AC005726.1
chr17
28455752
28614185
-
AC011511.1
chr19
10305427
10316009
-
AC099811.2
chr17
42119674
42154916
-
ACACA
chr17
37084992
37406836
-
AEBP2
chr12
19404045
19720801
+
AGAP6
chr10
49982190
50010499
+
AHSA1
chr14
77457870
77469472
+
AL117348.2
chr1
225886696
225924278
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-103a-3p
chr5
168560904
168560926
-
hsa-miR-107
chr10
89592756
89592778
-
hsa-miR-185-5p
chr22
20033153
20033174
+
hsa-miR-331-3p
chr12
95308480
95308500
+
hsa-miR-324-3p
chr17
7223308
7223330
-
hsa-miR-346
chr10
86264747
86264769
-
hsa-miR-663a
chr20
26208243
26208264
-
hsa-miR-671-5p
chr7
151238449
151238471
+
hsa-miR-361-3p
chrX
85903641
85903663
-
hsa-miR-362-3p
chrX
50009005
50009026
+
hsa-miR-423-5p
chr17
30117095
30117117
+
hsa-miR-541-3p
chr14
101064548
101064569
+
hsa-miR-1294
chr5
154347153
154347174
+
hsa-miR-1270
chr19
20399320
20399342
-
hsa-miR-1307-3p
chr10
103394301
103394322
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC002470.2
chr22
20979462
20998121
+
AC018521.1
chr17
47945424
47981736
+
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