Entry Detail



General Information

Database ID:exR0000426
RNA Name:AK1
RNA Type:mRNA
Chromosome:chr9
Starnd:-
Coordinate:
Start Site(bp):127866486End Site(bp):127877675
External Links:ENSG00000106992



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
ABHD17C
chr15
80679684
80755621
+
BCL11B
chr14
99169287
99272197
-
C9orf16
chr9
128160265
128163924
+
CBR3
chr21
36135079
36146562
+
CBX5
chr12
54230942
54280133
-
CLASP1
chr2
121337776
121649587
-
DBNDD1
chr16
90004871
90020128
-
ECI1
chr16
2239402
2252300
-
EIF4A1
chr17
7572706
7579006
+
HNRNPA1P48
chr16
51553436
51647132
+
HNRNPA3
chr2
177212563
177223958
+
IGFBP2
chr2
216632828
216664436
+
KANK1
chr9
470291
746106
+
LCMT1
chr16
25111731
25178231
+
MANEAL
chr1
37793802
37801137
+
MBNL1
chr3
152243828
152465780
+
NIP7
chr16
69337996
69343106
+
PRCP
chr11
82822936
82970584
-
RPS12
chr6
132814569
132817564
+
RPS19
chr19
41860255
41872925
+
SAP30L
chr5
154445997
154461053
+
SENP3-EIF4A1
chr17
7563287
7578715
+
SLC44A2
chr19
10602457
10644557
+
SYNRG
chr17
37514807
37609472
-
TBCEL
chr11
121024072
121090775
+
YTHDF2
chr1
28736621
28769775
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC016876.2
chr17
7581964
7584086
-
AL157935.2
chr9
127934503
127940952
+
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.