Entry Detail



General Information

Database ID:exR0015234
RNA Name:TPT1
RNA Type:mRNA
Chromosome:chr13
Starnd:-
Coordinate:
Start Site(bp):45333471End Site(bp):45341370
External Links:ENSG00000133112



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
ABCB4
chr7
87401697
87480435
-
AK2
chr1
33007940
33080996
-
AKAP17A
chrX
1591604
1602520
+
AARSD1
chr17
42950526
42964498
-
AGBL2
chr11
47659591
47715389
-
AC092718.8
chr16
81022316
81096284
-
AKAP1
chr17
57085092
57121346
+
ADM
chr11
10305073
10307397
+
AL136454.1
chr1
192716132
192716653
+
AAGAB
chr15
67200667
67255195
-
ACAP1
chr17
7336529
7351477
+
AC105052.1
chr7
102582523
102642869
-
AC112229.3
chr2
110402934
110473075
-
AL121594.1
chr14
35122549
35317474
+
ABR
chr17
1003518
1229738
-
AC005258.1
chr19
2269525
2341172
+
AIFM2
chr10
70098223
70132934
-
ADK
chr10
74151202
74709963
+
AL121753.1
chr20
35267885
35280043
-
ACIN1
chr14
23058564
23095614
-
AC073082.1
chr2
48632291
48755724
-
AGO4
chr1
35808016
35857890
+
AC073508.2
chr17
40627356
40665141
-
AC120057.2
chr17
7240427
7244635
-
AC010323.1
chr19
8308283
8321379
-
ACBD3
chr1
226144679
226186741
-
ADAR
chr1
154582057
154628013
-
ACTR1B
chr2
97655939
97664044
-
ACAD8
chr11
134253495
134265855
+
ADD3
chr10
109996368
110135565
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-3648
chr21
8987026
8987046
+
hsa-miR-4426
chr1
192716333
192716349
+
hsa-miR-4700-5p
chr12
120723202
120723223
+
hsa-miR-4700-3p
chr12
120723233
120723258
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005062.1
chr7
19918981
20140453
-
AC007952.4
chr17
19112000
19112636
-
AC012321.1
chr16
69703065
69704652
+
AC012531.2
chr12
54017110
54035361
+
AC016876.2
chr17
7581964
7584086
-
AC019155.2
chr7
125229579
125264291
-
AC020663.1
chr16
4730115
4752565
-
AC026362.1
chr12
122975320
122982907
+
AC064802.1
chr8
114282067
114295839
+
AC079781.5
chr7
97851688
97972985
-
AC091564.7
chr11
6610883
6616594
-
AC113414.1
chr5
162424042
163437326
-
AC132217.1
chr11
2129121
2129964
-
AC242426.2
chr1
147172755
147295734
+
AD000090.1
chr19
35557956
35581954
+
AL022311.1
chr22
37876148
37895563
+
AL096870.2
chr14
24209646
24215987
-
AL121749.1
chr10
35604485
35608153
-
AL136295.6
chr14
24198433
24199090
+
AL137058.2
chr13
52600042
52642542
+
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.