Entry Detail



General Information

Database ID:exR0017262
RNA Name:ACTN3
RNA Type:mRNA
Chromosome:chr11
Starnd:+
Coordinate:
Start Site(bp):66546395End Site(bp):66563334
External Links:ENSG00000248746



Disease Information

Disease Name:Trisomy 18 Syndrome
Disease Category:Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH ID:D000073842
Type:Diseases Category/Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Alias:Trisomy 18 Syndromes//Trisomy E Syndrome//Complete Trisomy 18 Syndrome//Edwards Syndrome//Trisomy 18//Mosaic Trisomy 18 Syndrome



Expression Detail

GEO ID:GSE25634
Description:Expression profiles of amniotic fluid from human fetuses with Trisomy 18 and euploid controls
Experimental Design:Disease vs Control
Case Disease Type:Trisomy 18 Syndrome
Case Disease SubType:NA
Case Sample:Trisomy 18 Syndrome
Control Sample:Normal
Number of Case:5
Number of Control:6
Number of Samples:11





Regulatory Relationship

mRNA targets:
Gene SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC010422.3
chr19
12643831
12648397
-
ACTN1
chr14
68874143
68979440
-
ACTN4
chr19
38647649
38731589
+
AKT2
chr19
40230317
40285536
-
ATG101
chr12
52069246
52077494
+
BCAR3
chr1
93561741
93847150
-
C19orf48
chr19
50797704
50804929
-
CDK18
chr1
205504595
205532793
+
CIAO1
chr2
96266159
96274173
+
CIRBP
chr19
1259384
1274880
+
GNAI1
chr7
79768028
80226181
+
LPCAT3
chr12
6976185
7018477
-
MCM7
chr7
100092728
100101940
-
MGST3
chr1
165631213
165661796
+
MON1B
chr16
77190835
77202398
+
NDUFA4
chr7
10931943
10940153
-
ODC1
chr2
10439968
10448327
-
PDGFA
chr7
497258
520296
-
PDZD4
chrX
153802166
153830565
-
PTTG1IP
chr21
44849585
44873903
-
RPL27A
chr11
8682788
8714759
+
SBF2
chr11
9778667
10294207
-
SFRP1
chr8
41261962
41309473
-
SRCAP
chr16
30698209
30741409
+
SZRD1
chr1
16352575
16398145
+
TIMM29
chr19
10928811
10933535
+
VAT1
chr17
43014607
43025123
-
VPS35
chr16
46656132
46689518
-
WIPF3
chr7
29806486
29917066
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
LINC00847
chr5
180830326
180839742
+
Display:



Experiment Detail

GEO ID:GSE25634
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:NA
RNA Extract protocol:RNA was extracted from 10 mL amniotic fluid supernatant with 30 mL TRIzol LS Reagent (Invitrogen, Carlsbad, CA) and 8 mL chloroform.
RNA library preparation protocol:biotin Samples were labeled using the FL-Ovation™ cDNA Biotin Module V2 (NuGEN, San Carlos, CA).



Reference

PMID:NA
Title:NA
Author:NA
Journal:NA
Description:NA