Entry Detail



General Information

Database ID:exR0000344
RNA Name:AFAP1
RNA Type:mRNA
Chromosome:chr4
Starnd:-
Coordinate:
Start Site(bp):7758714End Site(bp):7939926
External Links:ENSG00000196526



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
RAPGEF1
chr9
131576770
131740074
-
PGAM1
chr10
97426191
97433444
+
RBX1
chr22
40951347
40973309
+
ZNF462
chr9
106863166
107013634
+
DKC1
chrX
154762742
154777689
+
PA2G4
chr12
56104537
56113910
+
NCL
chr2
231453531
231483641
-
LAMTOR2
chr1
156054782
156058506
+
GAPDH
chr12
6534512
6538374
+
EXOSC4
chr8
144078648
144080648
+
RPS14
chr5
150442635
150449739
-
WDR46
chr6
33279108
33289247
-
TCP1
chr6
159778498
159789703
-
PITX2
chr4
110617423
110642123
-
FNDC3A
chr13
48975912
49209779
+
PFN1
chr17
4945652
4949061
-
FKBP1A
chr20
1368978
1393172
-
HS6ST1
chr2
128236716
128318868
-
DTL
chr1
212035553
212107400
+
TNIK
chr3
171058414
171460408
-
GDAP1
chr8
74321130
74488872
+
ACOX3
chr4
8366282
8440723
-
YME1L1
chr10
27110112
27155266
-
ERP29
chr12
112013348
112023449
+
MT-CO1
chrMT
5904
7445
+
PABPC4
chr1
39560816
39576790
-
MT-ND2
chrMT
4470
5511
+
BOD1
chr5
173607145
173616659
-
NUCKS1
chr1
205712822
205750182
-
SPG7
chr16
89490719
89557768
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-193a-3p
chr17
31560050
31560071
+
hsa-miR-485-5p
chr14
101055427
101055448
+
hsa-miR-193b-3p
chr16
14304017
14304038
+
hsa-miR-650
chr22
22822791
22822811
+
hsa-miR-423-5p
chr17
30117095
30117117
+
hsa-miR-664b-5p
chrX
154768596
154768619
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC016876.2
chr17
7581964
7584086
-
AL355987.4
chr9
136799223
136810042
+
SNHG14
chr15
24978583
25420336
+
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.