Entry Detail



General Information

Database ID:exR0001953
RNA Name:CALR
RNA Type:mRNA
Chromosome:chr19
Starnd:+
Coordinate:
Start Site(bp):12938578End Site(bp):12944489
External Links:ENSG00000179218



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
AARSD1
chr17
42950526
42964498
-
ABCF2
chr7
151207837
151227166
-
ABHD14B
chr3
51968510
51983409
-
ABI1
chr10
26746593
26861087
-
ABRACL
chr6
139028745
139043302
+
AC005943.1
chr19
1578339
1605445
-
AC007192.1
chr19
18153158
18178117
+
AC069503.2
chr12
121888809
121921470
+
AC138811.2
chr16
18788063
18801519
-
ACAD8
chr11
134253495
134265855
+
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACTR1A
chr10
102461881
102502712
-
ACTR3
chr2
113890063
113962596
+
ADCYAP1R1
chr7
31052461
31111479
+
ADNP2
chr18
80109262
80147523
+
AHCY
chr20
34280268
34311802
-
AK3
chr9
4709556
4742043
-
AKAP8
chr19
15353385
15379798
-
AKT2
chr19
40230317
40285536
-
ALDOA
chr16
30064164
30070457
+
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-663a
chr20
26208243
26208264
-
hsa-miR-423-5p
chr17
30117095
30117117
+
hsa-miR-541-3p
chr14
101064548
101064569
+
hsa-miR-6515-5p
chr19
12940486
12940506
+
hsa-miR-6515-3p
chr19
12940521
12940540
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC012236.1
chr15
31221999
31230838
-
AC026362.1
chr12
122975320
122982907
+
AC064802.1
chr8
114282067
114295839
+
AC132217.1
chr11
2129121
2129964
-
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.