Entry Detail



General Information

Database ID:exR0000452
RNA Name:AKIRIN2
RNA Type:mRNA
Chromosome:chr6
Starnd:-
Coordinate:
Start Site(bp):87674860End Site(bp):87702233
External Links:ENSG00000135334



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
RPS27
chr1
153990762
153992155
+
PLCB3
chr11
64251523
64269150
+
TM9SF4
chr20
32109714
32167258
+
SLAIN2
chr4
48341529
48426201
+
COX4I1
chr16
85798633
85807068
+
FASN
chr17
82078338
82098294
-
ADGRL3
chr4
61201258
62078335
+
PITX1
chr5
135027734
135034813
-
RPLP0
chr12
120196699
120201235
-
KLC2
chr11
66257294
66267860
+
SOX4
chr6
21593751
21598619
+
UBE2Z
chr17
48908407
48929056
+
SMARCAL1
chr2
216412414
216483053
+
HCN1
chr5
45254948
45696498
-
HLA-DRA
chr6
32439878
32445046
+
SECISBP2
chr9
89318500
89359663
+
TAF7
chr5
141260225
141320784
-
ELOVL5
chr6
53267398
53349179
-
RPL18
chr19
48615328
48619184
-
UBC
chr12
124911604
124917368
-
SCAND1
chr20
35953617
35959472
-
TUBA1C
chr12
49188736
49274603
+
RACGAP1
chr12
49976923
50033136
-
ACTR10
chr14
58200080
58235636
+
HSP90AB1
chr6
44246166
44253888
+
AFTPH
chr2
64524305
64593005
+
EDARADD
chr1
236348257
236502915
+
UBE2Q2L
chr15
84172490
84182234
+
MFSD11
chr17
76735865
76781449
+
TP53
chr17
7661779
7687550
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-3648
chr21
8987026
8987046
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC079949.1
chr12
127142029
127146532
-
AL139819.1
chr10
100335563
100346390
-
RASAL2-AS1
chr1
178090677
178093984
-
SNHG25
chr17
64145970
64146476
+
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.