Entry Detail



General Information

Database ID:exR0010568
RNA Name:PGK1
RNA Type:mRNA
Chromosome:chrX
Starnd:+
Coordinate:
Start Site(bp):77910739End Site(bp):78129295
External Links:ENSG00000102144



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
AIFM2
chr10
70098223
70132934
-
AC012254.2
chr18
47108188
47176345
-
AKIRIN2
chr6
87674860
87702233
-
AHSA1
chr14
77457870
77469472
+
AC011005.1
chr7
129126518
129130793
+
ADPGK
chr15
72751369
72785846
-
AKIRIN1
chr1
38991276
39006059
+
ABCC5
chr3
183919934
184017939
-
ABCB7
chrX
75051048
75156732
-
AFF4
chr5
132875395
132963634
-
ADCY5
chr3
123282296
123449758
-
AL121753.1
chr20
35267885
35280043
-
AC010422.5
chr19
12664828
12669397
-
AGGF1
chr5
77029251
77065234
+
ACTG1
chr17
81509971
81523847
-
ADGRB2
chr1
31727117
31764893
-
ABCE1
chr4
145098288
145129524
+
ACTR3
chr2
113890063
113962596
+
AC023055.1
chr12
55757275
55827546
-
AL355987.1
chr9
136738167
136748453
-
ADH5
chr4
99070978
99088801
-
ACAT1
chr11
108116695
108147603
+
AC008581.2
chr5
77030902
77152155
+
AFTPH
chr2
64524305
64593005
+
AAMP
chr2
218264123
218270257
-
ALDOA
chr16
30064164
30070457
+
ACTB
chr7
5527148
5563784
-
AL133352.1
chr10
100505628
100529881
-
ALDH3A2
chr17
19648136
19685760
+
AGFG1
chr2
227472152
227561214
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-29b-3p
chr7
130877467
130877489
-
hsa-miR-30c-5p
chr6
71377003
71377025
-
hsa-miR-136-5p
chr14
100884716
100884738
+
hsa-miR-299-3p
chr14
101023832
101023853
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC000068.1
chr22
19447893
19450105
+
AC007952.4
chr17
19112000
19112636
-
AC020663.1
chr16
4730115
4752565
-
AC023509.1
chr12
53441741
53467528
+
AC048341.2
chr12
62603909
62604399
+
AC074183.1
chr7
84939349
84940245
-
AC079781.5
chr7
97851688
97972985
-
AC091132.5
chr17
45549781
45558738
-
AC106864.1
chr4
112693047
112706810
-
AC113189.4
chr17
7439506
7445966
+
AC132217.1
chr11
2129121
2129964
-
AC133644.3
chr2
87455476
87767359
+
AL022311.1
chr22
37876148
37895563
+
AL137026.2
chr10
44259602
44261813
-
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.