Entry Detail



General Information

Database ID:exR0000413
RNA Name:AIF1L
RNA Type:mRNA
Chromosome:chr9
Starnd:+
Coordinate:
Start Site(bp):131096476End Site(bp):131123152
External Links:ENSG00000126878



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
APEX1
chr14
20455191
20457772
+
HSPD1
chr2
197486584
197516737
-
SNRPG
chr2
70281362
70293740
-
SHC1
chr1
154962298
154974395
-
AC008763.2
chr19
7629796
7643048
+
PIM2
chrX
48913182
48919024
-
HSP90AB1
chr6
44246166
44253888
+
MT-ND2
chrMT
4470
5511
+
ALDH16A1
chr19
49453225
49471050
+
HK1
chr10
69269984
69401884
+
RPL11
chr1
23691742
23696835
+
PDS5B
chr13
32586452
32778019
+
MIF
chr22
23894383
23895227
+
XRCC5
chr2
216107464
216206303
+
C17orf113
chr17
42038232
42050601
-
TUBA1C
chr12
49188736
49274603
+
LRRC75A
chr17
16441577
16492193
-
OTUD1
chr10
23439458
23442390
+
INTS3
chr1
153728050
153774808
+
ZNF449
chrX
135344796
135363413
+
FTH1
chr11
61959718
61967634
-
SRPRB
chr3
133784023
133825772
+
MARCKSL1
chr1
32333839
32336233
-
MCM3AP
chr21
46235133
46286297
-
PCDHGB5
chr5
141397987
141512979
+
ERH
chr14
69380128
69398299
-
PPCDC
chr15
75023586
75117462
+
SMARCD1
chr12
50085200
50100707
+
RPL18
chr19
48615328
48619184
-
RBM14
chr11
66616582
66627347
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-641
chr19
40282603
40282626
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC008267.5
chr7
66493607
66495758
+
AC069503.1
chr12
122007434
122020063
-
AL021707.3
chr22
38734730
38738990
+
MIR663AHG
chr20
26167817
26251546
-
NEAT1
chr11
65422774
65445540
+
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.