Entry Detail



General Information

Database ID:exR0017276
RNA Name:ACVR1
RNA Type:mRNA
Chromosome:chr2
Starnd:-
Coordinate:
Start Site(bp):157736444End Site(bp):157876330
External Links:ENSG00000115170



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
BCAT1
chr12
24810024
24949101
-
BRINP1
chr9
119153458
119369435
-
CIT
chr12
119685791
119877320
-
EIF4B
chr12
53006158
53042209
+
EWSR1
chr22
29268009
29300525
+
IFITM2
chr11
307631
315272
+
KPNA4
chr3
160495007
160565571
-
MAZ
chr16
29806106
29811164
+
MRPS5
chr2
95085369
95149434
-
MT-CO3
chrMT
9207
9990
+
NSL1
chr1
212726153
212791782
-
PEF1
chr1
31629866
31644896
-
RPS27A
chr2
55231903
55235853
+
SKAP2
chr7
26667068
26995239
-
TCF12
chr15
56918623
57299281
+
ZBED6
chr1
203795714
203854999
+
ZC3H11A
chr1
203795654
203854999
+
ZNF468
chr19
52838010
52857649
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-876-5p
chr9
28863675
28863696
-
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