Entry Detail



General Information

Database ID:exR0017071
RNA Name:AACS
RNA Type:mRNA
Chromosome:chr12
Starnd:+
Coordinate:
Start Site(bp):125065434End Site(bp):125143333
External Links:ENSG00000081760



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
NPM3
chr10
101781325
101783413
-
FGFR2
chr10
121478334
121598458
-
PDXK
chr21
43719094
43762307
+
EXOC6B
chr2
72175984
72826041
-
SIPA1L2
chr1
232397965
232561558
-
NOP14
chr4
2937933
2963406
-
ZNF579
chr19
55576774
55580848
-
MTERF4
chr2
241072169
241102332
-
EIF6
chr20
35278911
35284985
-
CITED2
chr6
139371807
139374648
-
EME1
chr17
50373220
50381483
+
PHLDA1
chr12
76025447
76033932
-
RPLP2
chr11
809965
812880
+
ZBTB44
chr11
130226677
130314917
-
KLHL21
chr1
6590724
6614607
-
TMEM259
chr19
1009648
1021179
-
RPS5
chr19
58386400
58394806
+
PCBP2
chr12
53452102
53481162
+
VCP
chr9
35056064
35072627
-
BRD9
chr5
850291
892801
-
TRIM13
chr13
49995888
50020481
+
SUPT20H
chr13
37009312
37059713
-
AIFM2
chr10
70098223
70132934
-
AL121753.1
chr20
35267885
35280043
-
OST4
chr2
27070472
27071654
-
HSP90AB1
chr6
44246166
44253888
+
BCKDK
chr16
31106107
31112791
+
AAMP
chr2
218264123
218270257
-
SELENOH
chr11
57741250
57743554
+
BUD31
chr7
99408641
99419616
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC023509.1
chr12
53441741
53467528
+
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