Entry Detail



General Information

Database ID:exR0000401
RNA Name:AHDC1
RNA Type:mRNA
Chromosome:chr1
Starnd:-
Coordinate:
Start Site(bp):27534035End Site(bp):27604431
External Links:ENSG00000126705



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
MTRNR2L10
chrX
55181392
55182442
-
EFNB2
chr13
106489745
106535662
-
DCUN1D4
chr4
51843000
51916837
+
PI4KA
chr22
20707691
20859417
-
PABPC1
chr8
100685816
100722809
-
PTBP1
chr19
797075
812327
+
TMEM107
chr17
8172457
8176399
-
ALDOA
chr16
30064164
30070457
+
ATRAID
chr2
27212027
27217178
+
LOXL3
chr2
74532258
74555690
-
FAM32A
chr19
16185380
16192046
+
EDARADD
chr1
236348257
236502915
+
EDC4
chr16
67873052
67884499
+
NUP188
chr9
128947699
129007096
+
ARHGAP33
chr19
35774532
35788822
+
SLC25A33
chr1
9539465
9585173
+
EP400
chr12
131949942
132080460
+
AIF1L
chr9
131096476
131123152
+
PRR14L
chr22
31676256
31750140
-
LPGAT1
chr1
211743457
211830763
-
RPS5
chr19
58386400
58394806
+
HCLS1
chr3
121631399
121660927
-
TOE1
chr1
45340052
45343973
+
CDK10
chr16
89680737
89696354
+
ATP1A1
chr1
116372668
116410261
+
NCBP1
chr9
97633668
97673748
+
CRTC1
chr19
18683678
18782333
+
WDR45B
chr17
82614562
82648553
-
GMEB2
chr20
63587602
63627101
-
RMI2
chr16
11249619
11381662
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-138-5p
chr16
56858527
56858549
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC138932.3
chr16
14909887
14911345
-
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.