Entry Detail



General Information

Database ID:exR0010758
RNA Name:PKM
RNA Type:mRNA
Chromosome:chr15
Starnd:-
Coordinate:
Start Site(bp):72199029End Site(bp):72231822
External Links:ENSG00000067225



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
+
AC027796.3
chr17
3585149
3636249
-
AC091167.2
chr15
90249556
90272208
+
ACACB
chr12
109116595
109268226
+
AL136454.1
chr1
192716132
192716653
+
AC093525.2
chr16
2496032
2520218
+
AL121594.1
chr14
35122549
35317474
+
AHCY
chr20
34280268
34311802
-
ACADM
chr1
75724347
75787575
+
ADA
chr20
44619522
44652233
-
AKT1S1
chr19
49869033
49878459
-
ADAR
chr1
154582057
154628013
-
ACTG2
chr2
73892314
73919865
+
AASS
chr7
122073549
122144255
-
AL121753.1
chr20
35267885
35280043
-
ADAM22
chr7
87934143
88202889
+
AHNAK
chr11
62433542
62556235
-
ADPGK
chr15
72751369
72785846
-
AC011448.1
chr19
19516227
19536076
+
ACO2
chr22
41469117
41528989
+
AC011462.1
chr19
41350853
41425001
+
AC093323.1
chr4
6663396
6676755
+
AD000671.2
chr19
35739252
35745432
-
ACTG1
chr17
81509971
81523847
-
ACTC1
chr15
34790230
34795549
-
ACAT2
chr6
159762045
159779112
+
AL133352.1
chr10
100505628
100529881
-
AIP
chr11
67483026
67491103
+
AC010422.3
chr19
12643831
12648397
-
AF241726.2
chrX
37349330
38687674
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-103a-3p
chr5
168560904
168560926
-
hsa-miR-367-3p
chr4
112647877
112647898
-
hsa-miR-654-5p
chr14
101040234
101040255
+
hsa-miR-541-3p
chr14
101064548
101064569
+
hsa-miR-1286
chr22
20249145
20249165
-
hsa-miR-3610
chr8
116874740
116874759
-
hsa-miR-5587-5p
chr16
535316
535333
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005899.4
chr17
32328441
32329395
+
AC010327.5
chr19
55216660
55221616
+
AC016876.2
chr17
7581964
7584086
-
AC020663.1
chr16
4730115
4752565
-
AC020928.1
chr19
36773112
36777078
+
AC024940.6
chr12
31280422
31280895
-
AC068205.2
chr11
43578889
43840030
+
AC079781.5
chr7
97851688
97972985
-
AC093827.4
chr4
86924630
86936202
-
AC100861.1
chr8
23224471
23230926
+
AC104461.1
chr1
200333193
200478669
+
AC106875.1
chr2
11681460
11683328
+
AC109460.3
chr16
28974804
28990775
+
AC132217.1
chr11
2129121
2129964
-
AC135048.1
chr16
30948386
30956511
+
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
AL031282.2
chr1
1702736
1737688
-
AL049796.1
chr1
93847174
93848939
+
AL110115.2
chr20
31580890
31581214
+
AL121992.1
chr1
15586136
15603626
-
AL137058.2
chr13
52600042
52642542
+
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.