Entry Detail



General Information

Database ID:exR0009466
RNA Name:NIPSNAP1
RNA Type:mRNA
Chromosome:chr22
Starnd:-
Coordinate:
Start Site(bp):29554808End Site(bp):29581327
External Links:ENSG00000184117



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
AKIP1
chr11
8911139
8920084
+
ACTB
chr7
5527148
5563784
-
AL358113.1
chr9
69035747
69255187
+
ACVR1B
chr12
51951699
51997078
+
ACTN4
chr19
38647649
38731589
+
AC006486.1
chr19
42234583
42255132
-
AC092143.1
chr16
89919165
89936092
+
AC009133.6
chr16
29812261
29820092
+
ADH5
chr4
99070978
99088801
-
AC010422.3
chr19
12643831
12648397
-
AL136454.1
chr1
192716132
192716653
+
AC091959.3
chr5
146203550
146339251
+
AC046185.1
chr17
63702845
63752097
-
AHCY
chr20
34280268
34311802
-
ALDH9A1
chr1
165662216
165698863
-
AC048338.1
chr12
122207779
122266423
-
ABT1
chr6
26596953
26600739
+
ACTG1
chr17
81509971
81523847
-
AC245033.1
chr15
82536788
82573194
-
AC131160.1
chr3
183815568
183884889
-
AFG3L2
chr18
12328944
12377227
-
AL121758.1
chr20
646626
675800
-
AC004922.1
chr7
99325879
99394653
+
ABHD5
chr3
43690108
43734371
+
AL022238.4
chr22
40346529
40410054
+
AC010463.1
chr19
17267418
17282966
+
AIP
chr11
67483026
67491103
+
AFDN
chr6
167826922
167972023
+
AC006064.6
chr12
6556886
6607367
-
AL121594.1
chr14
35122549
35317474
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-1286
chr22
20249145
20249165
-
hsa-miR-1321
chrX
85835832
85835849
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC005899.4
chr17
32328441
32329395
+
AC006160.1
chr4
17586267
17614585
-
AC007952.4
chr17
19112000
19112636
-
AC016026.1
chr22
17787652
17811497
-
AC016876.2
chr17
7581964
7584086
-
AC026362.1
chr12
122975320
122982907
+
AC027031.2
chr8
106270144
106272902
+
AC091820.2
chr5
167287320
167294273
-
AC132217.1
chr11
2129121
2129964
-
AC245033.4
chr15
82533175
82540008
-
AD000090.1
chr19
35557956
35581954
+
AL021707.1
chr22
38739003
38749041
+
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.