Entry Detail



General Information

Database ID:exR0000295
RNA Name:ADD1
RNA Type:mRNA
Chromosome:chr4
Starnd:+
Coordinate:
Start Site(bp):2843857End Site(bp):2930076
External Links:ENSG00000087274



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
HIRA
chr22
19330698
19447450
-
DDX17
chr22
38483438
38507660
-
HNRNPAB
chr5
178204533
178211163
+
ENO1
chr1
8861000
8879190
-
MFSD14A
chr1
100038095
100083377
+
RABGAP1L
chr1
174159410
174995308
+
MARCKSL1
chr1
32333839
32336233
-
MTERF4
chr2
241072169
241102332
-
EIF3L
chr22
37848868
37889407
+
CDC123
chr10
12195965
12250589
+
RPS10
chr6
34417454
34426069
-
PDHA2
chr4
95840093
95841464
+
RPL9
chr4
39452521
39458949
-
NPM1
chr5
171387116
171411137
+
IFI44L
chr1
78619922
78646145
+
SAMD11
chr1
923928
944581
+
B2M
chr15
44711487
44718877
+
POLE
chr12
132623753
132687376
-
HNRNPUL2
chr11
62712630
62727457
-
ELOC
chr8
73939169
73972287
-
RGL2
chr6
33291654
33298942
-
BIRC2
chr11
102347211
102378670
+
HLA-A
chr6
29941260
29945884
+
RPL4
chr15
66498015
66524532
-
RPS3
chr11
75399515
75422280
+
LPCAT3
chr12
6976185
7018477
-
CARHSP1
chr16
8852942
8869012
-
CAPN15
chr16
527712
554636
+
CLN6
chr15
68206992
68257211
-
RPS27A
chr2
55231903
55235853
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-184
chr15
79209840
79209861
+
hsa-miR-654-5p
chr14
101040234
101040255
+
hsa-miR-193a-5p
chr17
31560016
31560037
+
hsa-miR-361-3p
chrX
85903641
85903663
-
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
ACVR2B-AS1
chr3
38451027
38454820
-
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
AC009163.4
chr16
75458252
75460017
-
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.