Entry Detail



General Information

Database ID:exR0000128
RNA Name:ACBD5
RNA Type:mRNA
Chromosome:chr10
Starnd:-
Coordinate:
Start Site(bp):27195214End Site(bp):27242130
External Links:ENSG00000107897



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
CDC42SE1
chr1
151050971
151070325
-
MAML3
chr4
139716753
140154184
-
TUBA1C
chr12
49188736
49274603
+
RPL13A
chr19
49487554
49492308
+
MAP4K2
chr11
64784918
64803241
-
PTCD1
chr7
99416739
99466163
-
ATP5MF-PTCD1
chr7
99419749
99466197
-
HSPA8
chr11
123057489
123063230
-
GGA2
chr16
23463542
23521995
-
TUBA1A
chr12
49184795
49189080
-
TMEM216
chr11
61392360
61398863
+
YLPM1
chr14
74763316
74859435
+
AMOT
chrX
112774503
112840815
-
IGF2
chr11
2129112
2141238
-
PLS1
chr3
142596393
142713664
+
DECR2
chr16
401858
412487
+
TPI1
chr12
6867119
6870948
+
RNF7
chr3
141738249
141747560
+
ENO1
chr1
8861000
8879190
-
RTN3
chr11
63681446
63759891
+
MYL12B
chr18
3261479
3278431
+
B2M
chr15
44711487
44718877
+
LRIG2
chr1
113073198
113132260
+
CKAP5
chr11
46743048
46846308
-
RPS24
chr10
78033760
78056813
+
GOT2
chr16
58707131
58734342
-
HIPK3
chr11
33256672
33357023
+
FTL
chr19
48965309
48966879
+
LCP1
chr13
46125920
46211871
-
NACA2
chr17
61590421
61591219
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-93-5p
chr7
100093815
100093837
-
hsa-miR-145-5p
chr5
149430661
149430683
+
hsa-miR-526b-5p
chr19
53694406
53694428
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC020916.1
chr19
13823880
13842928
-
AC132217.1
chr11
2129121
2129964
-
SNHG1
chr11
62851984
62855953
-
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.