Entry Detail



General Information

Database ID:exR0000451
RNA Name:AKIRIN1
RNA Type:mRNA
Chromosome:chr1
Starnd:+
Coordinate:
Start Site(bp):38991276End Site(bp):39006059
External Links:ENSG00000174574



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
CHIC2
chr4
54009789
54064605
-
NOP10
chr15
34341713
34343177
-
DDX54
chr12
113157174
113185479
-
RBM39
chr20
35701347
35742312
-
MCFD2
chr2
46901870
46941855
-
KIAA0319L
chr1
35433492
35557950
-
SH2B3
chr12
111405923
111451623
+
IST1
chr16
71845996
71931199
+
KMT5C
chr19
55339853
55348121
+
CCNB1IP1
chr14
20311368
20333312
-
PJA2
chr5
109334713
109409974
-
DNAJB9
chr7
108569867
108574850
+
RAB3B
chr1
51907956
51990700
-
ANKRD17
chr4
73073376
73258798
-
EIF3B
chr7
2354086
2380745
+
PPP1CC
chr12
110719680
110742939
-
SLC38A1
chr12
46183063
46270017
-
CTSD
chr11
1752755
1764573
-
EIF4H
chr7
74174245
74197101
+
C12orf65
chr12
123233436
123257960
+
TFRC
chr3
196027183
196082096
-
TXNDC5
chr6
7881517
7910788
-
G3BP1
chr5
151771045
151812785
+
EP400
chr12
131949942
132080460
+
ZFC3H1
chr12
71609472
71667725
-
TKT
chr3
53224712
53256052
-
CKS2
chr9
89311195
89316703
+
TXN
chr9
110243810
110256507
-
EPAS1
chr2
46293667
46386697
+
ASB1
chr2
238426742
238452250
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-367-3p
chr4
112647877
112647898
-
hsa-miR-1321
chrX
85835832
85835849
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC138761.1
chr17
22266395
22288301
+
AP001496.2
chr18
5232876
5238526
-
ARSD-AS1
chrX
2904904
2906081
+
LINC01783
chr1
16533886
16536172
-
MAPKAPK5-AS1
chr12
111839764
111842902
-
SCARNA9
chr11
93721513
93721865
+
SNHG5
chr6
85650491
85678932
-
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.