Entry Detail



General Information

Database ID:exR0014794
RNA Name:TMBIM6
RNA Type:mRNA
Chromosome:chr12
Starnd:+
Coordinate:
Start Site(bp):49707725End Site(bp):49764934
External Links:ENSG00000139644



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
AKAP12
chr6
151239967
151358559
+
AGA
chr4
177430774
177442437
-
ACTB
chr7
5527148
5563784
-
AATF
chr17
36948954
37056871
+
ACBD5
chr10
27195214
27242130
-
ADAMTS1
chr21
26835755
26845409
-
AL353588.1
chr6
44273194
44378957
+
AC092647.5
chr7
55887277
55955239
+
AC026464.4
chr16
69299682
69322700
+
AGO2
chr8
140520156
140635633
-
ABCG2
chr4
88090150
88231628
-
AFF1
chr4
86935002
87141054
+
AC004997.1
chr22
30285238
30299482
-
AL139353.1
chr14
31334312
31457441
-
AC048338.1
chr12
122207779
122266423
-
AIF1L
chr9
131096476
131123152
+
AC078927.1
chr12
66123917
66169985
-
ACSF2
chr17
50426158
50474845
+
ADAM22
chr7
87934143
88202889
+
ABHD8
chr19
17292131
17310236
-
ALDOA
chr16
30064164
30070457
+
ACTG1
chr17
81509971
81523847
-
AHCY
chr20
34280268
34311802
-
ACO2
chr22
41469117
41528989
+
AC010422.3
chr19
12643831
12648397
-
AASDHPPT
chr11
106075501
106098699
+
ACTL6A
chr3
179562886
179588407
+
AL162417.1
chr9
133098121
133163914
-
AHNAK
chr11
62433542
62556235
-
ADRM1
chr20
62302093
62308862
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-423-5p
chr17
30117095
30117117
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC009446.1
chr8
71675300
71702786
+
AC012360.3
chr2
105334027
105337475
-
AC018521.1
chr17
47945424
47981736
+
AC020978.7
chr16
68224713
68227734
+
AC022140.1
chr5
25404733
25445925
-
AC023509.1
chr12
53441741
53467528
+
AD000090.1
chr19
35557956
35581954
+
AF129075.2
chr21
29058073
29060095
-
AL021707.3
chr22
38734730
38738990
+
AL049543.1
chr6
28587378
28591747
+
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.