Entry Detail



General Information

Database ID:exR0017261
RNA Name:ACTN2
RNA Type:mRNA
Chromosome:chr1
Starnd:+
Coordinate:
Start Site(bp):236664141End Site(bp):236764631
External Links:ENSG00000077522



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
ACTN1
chr14
68874143
68979440
-
CACNA1H
chr16
1153106
1221771
+
CHKB-CPT1B
chr22
50568869
50582965
-
CPT1B
chr22
50568861
50578465
-
ERGIC2
chr12
29337352
29381189
-
LTBP3
chr11
65538805
65558930
-
RABGGTA
chr14
24265538
24271739
-
RNF220
chr1
44405194
44651724
+
SLC39A1
chr1
153959099
153968184
-
ZBTB48
chr1
6579994
6589280
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:NA
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