Entry Detail



General Information

Database ID:exR0011540
RNA Name:PTMA
RNA Type:mRNA
Chromosome:chr2
Starnd:+
Coordinate:
Start Site(bp):231706895End Site(bp):231713541
External Links:ENSG00000187514



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
AC131160.1
chr3
183815568
183884889
-
AL590764.2
chrX
71103987
71111575
-
ACTR2
chr2
65227753
65271253
+
AC006030.1
chr2
74211604
74363377
-
AC008763.3
chr19
7678501
7682854
+
AC120057.2
chr17
7240427
7244635
-
AC092647.5
chr7
55887277
55955239
+
ABHD5
chr3
43690108
43734371
+
ADRA2C
chr4
3766348
3768526
+
ABT1
chr6
26596953
26600739
+
ADNP2
chr18
80109262
80147523
+
AC139530.2
chr17
81703371
81720539
+
AL358113.1
chr9
69035747
69255187
+
AC068946.1
chr2
219075329
219170827
-
AKAP8L
chr19
15380050
15419141
-
AL603832.3
chr1
112702614
112711433
-
ACAA2
chr18
49782164
49813953
-
ALDH18A1
chr10
95605941
95656711
-
AC009690.1
chr15
72284727
72375981
-
AL136454.1
chr1
192716132
192716653
+
ACTR1B
chr2
97655939
97664044
-
AGO1
chr1
35869808
35930532
+
ADGRA3
chr4
22345071
22516066
-
ADAM17
chr2
9488486
9556732
-
ABCF3
chr3
184186023
184194012
+
AC093323.1
chr4
6663396
6676755
+
AKR1A1
chr1
45550543
45570049
+
ADO
chr10
62804720
62808479
+
AC068547.1
chr2
151802651
151973949
-
ABL2
chr1
179099330
179229684
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-483-5p
chr11
2134181
2134202
-
hsa-miR-25-5p
chr7
100093610
100093630
-
hsa-miR-1244
chr2
231713368
231713393
+
hsa-miR-3652
chr12
103930425
103930442
+
hsa-miR-3960
chr9
127785879
127785898
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005083.1
chr7
20217577
20221700
+
AC007743.1
chr2
56173534
56185870
-
AC007952.4
chr17
19112000
19112636
-
AC008771.1
chr5
80411231
80488095
-
AC009022.1
chr16
69976297
70065948
-
AC012485.1
chr2
238231684
238255633
+
AC012615.1
chr19
1874871
1876169
-
AC016876.2
chr17
7581964
7584086
-
AC018521.1
chr17
47945424
47981736
+
AC026362.1
chr12
122975320
122982907
+
AC061975.1
chr17
28263634
28266369
-
AC068473.5
chr18
79677287
79679358
-
AC092755.2
chr15
59688517
59689418
+
AC116407.1
chr17
32141226
32143135
-
AC245033.4
chr15
82533175
82540008
-
AL121992.1
chr1
15586136
15603626
-
AL137003.1
chr6
16764346
16766883
+
AL137782.1
chr13
75549773
75807120
+
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.