Entry Detail



General Information

Database ID:exR0005801
RNA Name:GNAS
RNA Type:mRNA
Chromosome:chr20
Starnd:+
Coordinate:
Start Site(bp):58839718End Site(bp):58911192
External Links:ENSG00000087460



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
AADAT
chr4
170060222
170091699
-
AL133352.1
chr10
100505628
100529881
-
AC138811.2
chr16
18788063
18801519
-
ACLY
chr17
41866917
41930542
-
AC004922.1
chr7
99325879
99394653
+
ABRACL
chr6
139028745
139043302
+
AC012254.2
chr18
47108188
47176345
-
AGFG1
chr2
227472152
227561214
+
AKAP17A
chrX
1591604
1602520
+
AC005258.1
chr19
2269525
2341172
+
ADCY2
chr5
7396138
7830081
+
AIG1
chr6
143060496
143341058
+
ADGRL2
chr1
81306160
81992436
+
ACKR3
chr2
236567787
236582354
+
ABI1
chr10
26746593
26861087
-
ADA
chr20
44619522
44652233
-
AKT1
chr14
104769349
104795751
-
ACTN4
chr19
38647649
38731589
+
AGO3
chr1
35930718
36072500
+
AC139530.2
chr17
81703371
81720539
+
AC140504.1
chr16
15395754
15515348
+
AC245033.1
chr15
82536788
82573194
-
AHNAK
chr11
62433542
62556235
-
AC087289.3
chr17
75898645
75930129
-
ADCY1
chr7
45574140
45723116
+
ABHD17C
chr15
80679684
80755621
+
AL136531.2
chr20
1317571
1393096
-
ALDH9A1
chr1
165662216
165698863
-
AC092647.5
chr7
55887277
55955239
+
AC010422.3
chr19
12643831
12648397
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-20a-5p
chr13
91351072
91351094
+
hsa-miR-103a-3p
chr5
168560904
168560926
-
hsa-miR-146a-5p
chr5
160485372
160485393
+
hsa-miR-1181
chr19
10403505
10403525
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC007637.1
chr12
109111218
109125594
+
AC007952.4
chr17
19112000
19112636
-
AC010442.1
chr5
466124
473098
-
AC010642.2
chr19
58309727
58327248
-
AC011447.3
chr19
20122569
20321305
-
AC016876.2
chr17
7581964
7584086
-
AC023509.1
chr12
53441741
53467528
+
AC040162.3
chr16
67882461
67886367
+
AC090587.2
chr11
3854612
3855399
+
AC106864.1
chr4
112693047
112706810
-
AC124068.2
chr15
89335053
89336161
+
AC132217.1
chr11
2129121
2129964
-
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.