Entry Detail



General Information

Database ID:exR0000380
RNA Name:AGPAT1
RNA Type:mRNA
Chromosome:chr6
Starnd:-
Coordinate:
Start Site(bp):32168212End Site(bp):32178096
External Links:ENSG00000204310



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
NAP1L3
chrX
93670930
93673578
-
UBC
chr12
124911604
124917368
-
ENO1
chr1
8861000
8879190
-
TRIM71
chr3
32817997
32897824
+
NEMP1
chr12
57055643
57088063
-
DBN1
chr5
177456608
177474401
-
DAG1
chr3
49468703
49535618
+
ABHD17C
chr15
80679684
80755621
+
ATR
chr3
142449007
142578733
-
MT-ND1
chrMT
3307
4262
+
SNRNP200
chr2
96274338
96321271
-
TMPO
chr12
98515512
98550379
+
DHFR
chr5
80626226
80654983
-
PAK6
chr15
40217428
40277487
+
NEK6
chr9
124257606
124353307
+
APP
chr21
25880550
26171128
-
GMPS
chr3
155870650
155944020
+
ACTG1
chr17
81509971
81523847
-
MFSD12
chr19
3538261
3574290
-
RPS3
chr11
75399515
75422280
+
RAI1
chr17
17681458
17811453
+
CBX1
chr17
48070052
48101478
-
SDHC
chr1
161314257
161375340
+
AL121753.1
chr20
35267885
35280043
-
EDC4
chr16
67873052
67884499
+
PTPN12
chr7
77537295
77640069
+
COX7A2L
chr2
42333546
42425088
-
RPL31
chr2
101002229
101024032
+
ELF1
chr13
40931924
41061440
-
SIX4
chr14
60709539
60724351
-
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC040162.3
chr16
67882461
67886367
+
GATA3-AS1
chr10
8050450
8053484
-
OIP5-AS1
chr15
41283990
41309737
+
SNHG16
chr17
76557764
76565348
+
XIST
chrX
73820649
73852723
-
ZNF436-AS1
chr1
23368997
23371839
+
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.