Entry Detail



General Information

Database ID:exR0017076
RNA Name:AAK1
RNA Type:mRNA
Chromosome:chr2
Starnd:-
Coordinate:
Start Site(bp):69457997End Site(bp):69674349
External Links:ENSG00000115977



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
ACAP2
chr3
195274745
195443044
-
ADD2
chr2
70607618
70768225
-
BANP
chr16
87949244
88077318
+
CDC42
chr1
22025511
22101360
+
CDK18
chr1
205504595
205532793
+
CFLAR
chr2
201116154
201176687
+
CHPT1
chr12
101696947
101744140
+
CNDP2
chr18
74495816
74523454
+
CTNNA1
chr5
138610967
138935034
+
GNL3
chr3
52681156
52694497
+
HCN1
chr5
45254948
45696498
-
HDLBP
chr2
241227264
241317061
-
HUWE1
chrX
53532096
53686728
-
MT-ATP6
chrMT
8527
9207
+
PAICS
chr4
56435741
56464579
+
PPP1CB
chr2
28751640
28802940
+
PRRC2B
chr9
131373636
131500197
+
PSMB2
chr1
35599541
35641526
-
PTPRZ1
chr7
121873089
122062036
+
SH2B3
chr12
111405923
111451623
+
SLCO3A1
chr15
91853708
92172435
+
SNRNP200
chr2
96274338
96321271
-
SRP14
chr15
40035690
40039181
-
SSH2
chr17
29625938
29930276
-
TRIM65
chr17
75880335
75896951
-
TRIO
chr5
14143342
14532128
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC008764.6
chr19
16542746
16544814
+
AC069544.1
chr10
14877688
14878686
-
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