Entry Detail



General Information

Database ID:exR0000427
RNA Name:AK2
RNA Type:mRNA
Chromosome:chr1
Starnd:-
Coordinate:
Start Site(bp):33007940End Site(bp):33080996
External Links:ENSG00000004455



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
IFI30
chr19
18173162
18178117
+
C19orf53
chr19
13774456
13778773
+
RBM10
chrX
47145221
47186813
+
RPL5
chr1
92832013
92841924
+
SAP30BP
chr17
75667251
75708062
+
PPP2CA
chr5
134194332
134226073
-
RPLP1
chr15
69452814
69456205
+
REXO1
chr19
1815248
1848483
-
ARL2BP
chr16
57245259
57253635
+
GTF3C5
chr9
133030675
133058503
+
GRID1
chr10
85599552
86366795
-
OGFOD3
chr17
82389210
82418637
-
MRPL4
chr19
10251901
10260055
+
EIF4E
chr4
98871684
98930637
-
DDIT4
chr10
72273924
72276036
+
MYBBP1A
chr17
4538897
4555631
-
MZT1
chr13
72708367
72727629
-
AC011448.1
chr19
19516227
19536076
+
MTRNR2L1
chr17
22523111
22524663
+
CDC42SE1
chr1
151050971
151070325
-
HAUS1
chr18
46104378
46128333
+
POMP
chr13
28659104
28678959
+
AP2A1
chr19
49766968
49807113
+
HLA-B
chr6
31269491
31357188
-
OCIAD1
chr4
48805212
48861817
+
MAL2
chr8
119165034
119245673
+
RPS5
chr19
58386400
58394806
+
HLA-DQB1
chr6
32659467
32668383
-
STRAP
chr12
15882387
15903478
+
SLC25A37
chr8
23528956
23575463
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-204-5p
chr9
70810031
70810052
-
hsa-miR-211-5p
chr15
31065095
31065116
-
hsa-miR-141-3p
chr12
6964155
6964176
+
hsa-miR-299-3p
chr14
101023832
101023853
+
hsa-miR-1224-5p
chr3
184241405
184241423
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC009133.5
chr16
29808679
29812227
+
AL121985.1
chr1
160670778
160699761
+
GUSBP11
chr22
23638487
23717356
-
LINC02381
chr12
54126082
54147485
+
LINC02539
chr6
137730170
137792835
-
MALAT1
chr11
65497688
65506516
+
SNHG17
chr20
38419638
38435409
-
SNHG5
chr6
85650491
85678932
-
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.