Entry Detail



General Information

Database ID:exR0000324
RNA Name:ADPGK
RNA Type:mRNA
Chromosome:chr15
Starnd:-
Coordinate:
Start Site(bp):72751369End Site(bp):72785846
External Links:ENSG00000159322



Disease Information

Disease Name:Down Syndrome
Disease Category:Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH ID:D004314
Type:Diseases Category/Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Alias:Syndrome, Down//Mongolism//47,XY,+21//Trisomy G//47,XX,+21//Down's Syndrome//Downs Syndrome//Syndrome, Down's//Trisomy 21//Trisomy 21, Mitotic Nondisjunction//Down Syndrome, Partial Trisomy 21//Partial Trisomy 21 Down Syndrome//Trisomy 21, Meiotic Nondisjunction



Expression Detail

GEO ID:GSE16176
Description:Expression profiles of amniotic fluid from human fetuses with Down syndrome and euploid controls
Experimental Design:Disease vs Control
Case Disease Type:Down Syndrome
Case Disease SubType:NA
Case Sample:Down Syndrome
Control Sample:Normal
Number of Case:7
Number of Control:7
Number of Samples:14





Regulatory Relationship

mRNA targets:
Gene SymbolChromosomeStart Site(bp)End Site(bp)Strand
EEF1A1
chr6
73515750
73523797
-
B4GAT1
chr11
66345374
66347629
-
MKNK2
chr19
2037465
2051244
-
UBA2
chr19
34428352
34471251
+
PGK1
chrX
77910739
78129295
+
STAMBP
chr2
73828916
73873659
+
CCDC150
chr2
196639554
196763490
+
SRSF1
chr17
58000919
58007346
-
GTF3C2
chr2
27325849
27357034
-
EIF3H
chr8
116642130
116766925
-
ACTB
chr7
5527148
5563784
-
GMCL1
chr2
69829660
69881384
+
BCAR3
chr1
93561741
93847150
-
UBE2V2
chr8
48008415
48064708
+
MTHFD2
chr2
74198610
74217565
+
MT-CO1
chrMT
5904
7445
+
NOL8
chr9
92297358
92325636
-
EFTUD2
chr17
44849948
44899445
-
PPP1R14B
chr11
64244479
64246943
-
ZFP42
chr4
187995771
188005046
+
ATG4B
chr2
241637213
241673857
+
NDUFB3
chr2
201071433
201085750
+
BCKDK
chr16
31106107
31112791
+
PCBP2
chr12
53452102
53481162
+
MORC4
chrX
106813871
107000212
-
HMGB2
chr4
173331376
173334432
-
SLC25A29
chr14
100291116
100306547
-
TBCA
chr5
77691166
77868780
-
SACS
chr13
23328826
23433740
-
PASK
chr2
241106099
241150264
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC016876.2
chr17
7581964
7584086
-
AC023509.1
chr12
53441741
53467528
+
AC135050.1
chr16
31056460
31062803
+
AL355488.1
chr1
110370154
110373003
+
PCBP2-OT1
chr12
53464468
53465057
+
XIST
chrX
73820649
73852723
-
Display:



Experiment Detail

GEO ID:GSE16176
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 AF with 30 mL TRIzol LS Reagent (Invitrogen, Carlsbad, CA) and 8 mL chloroform. After RNA extraction, RNA was purified and DNA was removed using the RNeasy® Maxi Kit, including the DNase step according to the manufacturer's protocol (QIAGEN, Valencia, CA). RNA was precipitated using 3M NaOAc and 100% ethanol, and 80% ethanol was added after 4 hours incubation at -20 °C. cDNA, synthesized from extracted RNA, was amplified and purified using the WT-Ovation™ Pico RNA Amplification System (NuGEN, San Carlos, CA) and the DNA Clean & Concentrator™-25 (Zymo Research, Orange, CA).
RNA library preparation protocol:biotin Samples were labeled using the FL-Ovation™ cDNA Biotin Module V2 (NuGEN, San Carlos, CA).



Reference

PMID:19474297
Title:Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses
Author:Slonim DK, Koide K, Johnson KL, Tantravahi U, Cowan JM, Jarrah Z, Bianchi DW
Journal:Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9425-9.
Description:To characterize the differences between second trimester Down syndrome (DS) and euploid fetuses, we used Affymetrix microarrays to compare gene expression in uncultured amniotic fluid supernatant samples.