Entry Detail



General Information

Database ID:exR0017093
RNA Name:ABCA3
RNA Type:mRNA
Chromosome:chr16
Starnd:-
Coordinate:
Start Site(bp):2275881End Site(bp):2340746
External Links:ENSG00000167972



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
ATG2B
chr14
96279195
96363341
-
BCAR1
chr16
75228181
75268053
-
LAMB2
chr3
49121114
49133118
-
HLA-F
chr6
29722775
29738528
+
NOC4L
chr12
132144457
132152473
+
HS3ST3A1
chr17
13494032
13601929
-
ASRGL1
chr11
62337448
62393412
+
HNRNPUL2-BSCL2
chr11
62690275
62727384
-
SIK3
chr11
116843402
117098437
-
MCMBP
chr10
119829404
119892556
-
CYB5R3
chr22
42617840
42649392
-
RPL11
chr1
23691742
23696835
+
KLHL21
chr1
6590724
6614607
-
PVRIG
chr7
100218241
100221490
+
ZNF219
chr14
21090077
21104722
-
PKM
chr15
72199029
72231822
-
HMGB2
chr4
173331376
173334432
-
DNAJC18
chr5
139408588
139444491
-
MT-ND4L
chrMT
10470
10766
+
CHTF18
chr16
788046
800737
+
CDH4
chr20
61252261
61940617
+
TSC2
chr16
2047967
2089491
+
CDCA2
chr8
25459199
25507911
+
TPRN
chr9
137191617
137204193
-
HLA-E
chr6
30489509
30494194
+
DCP2
chr5
112976702
113022195
+
FAM104A
chr17
73207353
73236753
-
BUB3
chr10
123154402
123170467
+
RFWD3
chr16
74621399
74666877
-
TUBB2A
chr6
3153666
3157544
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC022167.2
chr16
8848105
8860456
+
AC245014.3
chr1
145281116
145281462
+
XIST
chrX
73820649
73852723
-
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