Entry Detail



General Information

Database ID:exR0000350
RNA Name:AFF4
RNA Type:mRNA
Chromosome:chr5
Starnd:-
Coordinate:
Start Site(bp):132875395End Site(bp):132963634
External Links:ENSG00000072364



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
CCDC6
chr10
59788747
59906556
-
GAN
chr16
81314966
81380198
+
KCTD3
chr1
215567304
215621807
+
MAPK14
chr6
36027677
36111236
+
CDYL
chr6
4706159
4955551
+
KRAS
chr12
25205246
25250936
-
ANKHD1-EIF4EBP3
chr5
140401908
140549569
+
ARFGEF3
chr6
138161939
138344663
+
EIF3C
chr16
28688558
28735730
+
ENSA
chr1
150600851
150629612
-
UBA52
chr19
18571730
18577550
+
FCHSD1
chr5
141639302
141651418
-
BRK1
chr3
10115675
10127190
+
AC048338.1
chr12
122207779
122266423
-
GUCY1B1
chr4
155758992
155807774
+
RPLP1
chr15
69452814
69456205
+
SNRPA
chr19
40750637
40765389
+
MTX3
chr5
79976731
79991265
-
KCNN1
chr19
17951293
18000080
+
RHOG
chr11
3826978
3840959
-
TUBA1B
chr12
49127782
49131397
-
CSK
chr15
74782057
74803198
+
RHEB
chr7
151466012
151520120
-
NUCKS1
chr1
205712822
205750182
-
DEPDC1
chr1
68474152
68497221
-
EIF4EBP3
chr5
140547662
140549576
+
SMARCC1
chr3
47585269
47782106
-
HDHD2
chr18
47107408
47150500
-
NET1
chr10
5412557
5459056
+
HNRNPDL
chr4
82422564
82430408
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-20a-5p
chr13
91351072
91351094
+
hsa-miR-33a-5p
chr22
41900949
41900969
+
hsa-miR-93-5p
chr7
100093815
100093837
-
hsa-miR-205-5p
chr1
209432166
209432187
+
hsa-miR-106b-5p
chr7
100094043
100094063
-
hsa-miR-299-3p
chr14
101023832
101023853
+
hsa-miR-519c-5p
chr19
53686484
53686505
+
hsa-miR-526a-5p
chr19
53726928
53726949
+
hsa-miR-33b-5p
chr17
17813897
17813916
-
hsa-miR-642a-5p
chr19
45674943
45674964
+
hsa-miR-423-5p
chr17
30117095
30117117
+
hsa-miR-519b-5p
chr19
53695225
53695246
+
hsa-miR-520c-5p
chr19
53707468
53707489
+
hsa-miR-518d-5p
chr19
53734892
53734913
+
hsa-miR-1321
chrX
85835832
85835849
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC008105.3
chr17
45190931
45222222
-
AC091564.7
chr11
6610883
6616594
-
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.