Entry Detail



General Information

Database ID:exR0000400
RNA Name:AHCYL2
RNA Type:mRNA
Chromosome:chr7
Starnd:+
Coordinate:
Start Site(bp):129225023End Site(bp):129430211
External Links:ENSG00000158467



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
AHCYL1
chr1
109984765
110023742
+
IQCC
chr1
32205661
32208687
+
HSP90AB1
chr6
44246166
44253888
+
HMGCS1
chr5
43287470
43313512
-
MFAP3L
chr4
169986597
170033031
-
RPL22L1
chr3
170864875
170870208
-
LIN28A
chr1
26410817
26429728
+
CD9
chr12
6199715
6238271
+
TPT1
chr13
45333471
45341370
-
NFYB
chr12
104117086
104138241
-
LMNB2
chr19
2427638
2456959
-
ARPP19
chr15
52547045
52569883
-
CFL1
chr11
65823022
65862026
-
RNPS1
chr16
2253116
2268397
-
RCAN1
chr21
34513142
34615113
-
DNAAF5
chr7
726699
786475
+
PGK1
chrX
77910739
78129295
+
GGA2
chr16
23463542
23521995
-
HERC2
chr15
28111040
28322172
-
SYT11
chr1
155859567
155885199
+
KMT5B
chr11
68154863
68213828
-
CSTF2
chrX
100820359
100840932
+
MRPL15
chr8
54135241
54148514
+
EEF1D
chr8
143579697
143599541
-
AKIRIN1
chr1
38991276
39006059
+
RPS14
chr5
150442635
150449739
-
CDK2AP1
chr12
123250112
123272334
-
TMUB1
chr7
151081085
151083493
-
TUBA1B
chr12
49127782
49131397
-
UTP3
chr4
70688532
70690551
+
miRNA targets:NA
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC009022.1
chr16
69976297
70065948
-
AL049796.1
chr1
93847174
93848939
+
LINC01535
chr19
37251885
37265535
+
U91319.1
chr16
13246232
13563388
+
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.