Entry Detail



General Information

Database ID:exR0000121
RNA Name:ACAP1
RNA Type:mRNA
Chromosome:chr17
Starnd:+
Coordinate:
Start Site(bp):7336529End Site(bp):7351477
External Links:ENSG00000072818



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
HLA-DRA
chr6
32439878
32445046
+
FOXH1
chr8
144473412
144475849
-
ZNF449
chrX
135344796
135363413
+
MIF
chr22
23894383
23895227
+
KDF1
chr1
26949562
26960468
-
SQSTM1
chr5
179806398
179838078
+
PFN1
chr17
4945652
4949061
-
CD74
chr5
150400041
150412929
-
RGS10
chr10
119499817
119542719
-
TUBB
chr6
30720352
30725426
+
ISG15
chr1
1001138
1014540
+
C20orf204
chr20
64034344
64039962
+
AL133352.1
chr10
100505628
100529881
-
DHX16
chr6
30653119
30673006
-
AP002990.1
chr11
62559603
62591531
-
UGCG
chr9
111896814
111935369
+
DNAJC30
chr7
73680918
73683453
-
ACTG1
chr17
81509971
81523847
-
VPS53
chr17
508668
721717
-
HLA-DMA
chr6
32948613
32969094
-
CDC25B
chr20
3786772
3806121
+
RCC1
chr1
28505943
28539300
+
YME1L1
chr10
27110112
27155266
-
REEP3
chr10
63521401
63625128
+
CD70
chr19
6583183
6604103
-
ZNF593
chr1
26169908
26170873
+
NSMF
chr9
137447573
137459334
-
EXOC3
chr5
443175
471937
+
ZNF761
chr19
53445001
53458261
+
APH1A
chr1
150265399
150269580
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC139149.1
chr17
81514047
81527776
+
LINC01184
chr5
127939152
128083172
-
SNHG3
chr1
28505980
28510892
+
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.