Entry Detail



General Information

Database ID:exR0000407
RNA Name:AHSA1
RNA Type:mRNA
Chromosome:chr14
Starnd:+
Coordinate:
Start Site(bp):77457870End Site(bp):77469472
External Links:ENSG00000100591



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
ENO1
chr1
8861000
8879190
-
RPS9
chr19
54200809
54249003
+
OAZ1
chr19
2269509
2273490
+
SDHC
chr1
161314257
161375340
+
RPLP0
chr12
120196699
120201235
-
PIMREG
chr17
6444441
6451469
+
ST3GAL6
chr3
98732236
98821201
+
MDK
chr11
46380756
46383837
+
ZNF608
chr5
124636913
124748807
-
MT-ATP6
chrMT
8527
9207
+
ALDOA
chr16
30064164
30070457
+
SIRPA
chr20
1894167
1940592
+
KRT19
chr17
41523617
41528308
-
TTC7B
chr14
90524564
90816479
-
PCED1A
chr20
2835314
2841190
-
RPL27A
chr11
8682788
8714759
+
B2M
chr15
44711487
44718877
+
CCT4
chr2
61868085
61888671
-
C9orf78
chr9
129827290
129835863
-
IVNS1ABP
chr1
185296388
185317273
-
ZDHHC22
chr14
77131270
77142734
-
CDCA7
chr2
173354820
173368997
+
LCP1
chr13
46125920
46211871
-
RPS26
chr12
56041351
56044697
+
APH1A
chr1
150265399
150269580
-
LMNB2
chr19
2427638
2456959
-
ATP5F1D
chr19
1241746
1244825
+
FTSJ3
chr17
63819433
63830012
-
PTPRF
chr1
43525187
43623666
+
NOP10
chr15
34341713
34343177
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC239799.1
chr1
146235806
146237807
+
AP001496.2
chr18
5232876
5238526
-
MIR663AHG
chr20
26167817
26251546
-
RAB11B-AS1
chr19
8374373
8390685
-
RMRP
chr9
35657751
35658018
-
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.