Entry Detail



General Information

Database ID:exR0000283
RNA Name:ADCY1
RNA Type:mRNA
Chromosome:chr7
Starnd:+
Coordinate:
Start Site(bp):45574140End Site(bp):45723116
External Links:ENSG00000164742



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
HLA-A
chr6
29941260
29945884
+
RBMXL1
chr1
88979456
88992960
-
CTTN
chr11
70398404
70436584
+
SCYL1
chr11
65525077
65538704
+
FP565260.1
chr21
5130871
5154658
-
ICE1
chr5
5420664
5490220
+
GNAS
chr20
58839718
58911192
+
NFATC2IP
chr16
28950807
28967097
+
SV2A
chr1
149903318
149917844
-
GLRX3
chr10
130136391
130184521
+
LAMA5
chr20
62307955
62367312
-
MFSD1
chr3
158732198
158829719
+
TMEM185A
chrX
149596556
149631912
-
UBXN4
chr2
135741734
135785056
+
C6orf62
chr6
24704861
24719998
-
SZRD1
chr1
16352575
16398145
+
PWP2
chr21
44107373
44131181
+
MBP
chr18
76978827
77133683
-
ATP5MC2
chr12
53632726
53677408
-
KLF2
chr19
16324817
16327874
+
GAPDH
chr12
6534512
6538374
+
KAT2A
chr17
42113111
42121367
-
HUWE1
chrX
53532096
53686728
-
RAB5A
chr3
19947097
19985175
+
PHB2
chr12
6965327
6970753
-
MARCKS
chr6
113857345
113863475
+
SUMO3
chr21
44805617
44818779
-
NCOA6
chr20
34689097
34825651
-
FBRSL1
chr12
132489551
132585188
+
LAMB1
chr7
107923799
108003187
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
LINC00665
chr19
36313067
36331770
-
XIST
chrX
73820649
73852723
-
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.