Entry Detail



General Information

Database ID:exR0005171
RNA Name:FGFR1
RNA Type:mRNA
Chromosome:chr8
Starnd:-
Coordinate:
Start Site(bp):38400215End Site(bp):38468834
External Links:ENSG00000077782



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
ABCC4
chr13
95019835
95301475
-
ABCF1
chr6
30571393
30597179
+
ABHD17A
chr19
1876810
1885547
-
ABI2
chr2
203328239
203447728
+
AC002996.1
chr12
111753890
111791418
+
AC005258.1
chr19
2269525
2341172
+
AC067968.1
chr19
44025354
44087318
+
AC107871.1
chr15
68184032
68229718
-
AC139530.2
chr17
81703371
81720539
+
ACACA
chr17
37084992
37406836
-
ACAD10
chr12
111686056
111757107
+
ACLY
chr17
41866917
41930542
-
ACOT7
chr1
6264269
6394391
-
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
AGAP1
chr2
235494043
236131800
+
AGPAT5
chr8
6708642
6761503
+
AKIRIN1
chr1
38991276
39006059
+
AKR1E2
chr10
4786629
4848062
+
AL121845.3
chr20
63708864
63739103
+
AL589666.1
chr6
85557978
85615234
-
ALDH4A1
chr1
18871430
18902724
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-214-3p
chr1
172138816
172138837
-
hsa-miR-184
chr15
79209840
79209861
+
hsa-miR-195-5p
chr17
7017667
7017687
-
hsa-miR-543
chr14
101032033
101032054
+
hsa-miR-1286
chr22
20249145
20249165
-
hsa-miR-1294
chr5
154347153
154347174
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC022167.2
chr16
8848105
8860456
+
AL022311.1
chr22
37876148
37895563
+
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.