Entry Detail



General Information

Database ID:exR0010554
RNA Name:PGAM1
RNA Type:mRNA
Chromosome:chr10
Starnd:+
Coordinate:
Start Site(bp):97426191End Site(bp):97433444
External Links:ENSG00000171314



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
AASDHPPT
chr11
106075501
106098699
+
ABCB6
chr2
219209772
219218994
-
ABHD17C
chr15
80679684
80755621
+
ABI2
chr2
203328239
203447728
+
ABL2
chr1
179099330
179229684
-
AC007846.2
chr17
5772926
6080792
+
AC073082.1
chr2
48632291
48755724
-
AC091959.3
chr5
146203550
146339251
+
AC110275.1
chr8
43018424
43077334
+
AC139530.2
chr17
81703371
81720539
+
AC245033.1
chr15
82536788
82573194
-
ACACA
chr17
37084992
37406836
-
ACAT2
chr6
159762045
159779112
+
ACBD7
chr10
15075475
15088776
-
ACTB
chr7
5527148
5563784
-
ACTR1A
chr10
102461881
102502712
-
ACTR1B
chr2
97655939
97664044
-
ADA
chr20
44619522
44652233
-
ADAR
chr1
154582057
154628013
-
ADD2
chr2
70607618
70768225
-
AFAP1
chr4
7758714
7939926
-
AGBL5
chr2
27042364
27070622
+
AKT2
chr19
40230317
40285536
-
AL024498.2
chr6
10747794
10930423
+
AL157392.5
chr10
13610047
13655929
+
ALDH18A1
chr10
95605941
95656711
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-423-5p
chr17
30117095
30117117
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC009022.1
chr16
69976297
70065948
-
AC026461.1
chr16
56682470
56687807
+
AC245033.4
chr15
82533175
82540008
-
AL022311.1
chr22
37876148
37895563
+
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.