Entry Detail



General Information

Database ID:exR0008322
RNA Name:MARCKSL1
RNA Type:mRNA
Chromosome:chr1
Starnd:-
Coordinate:
Start Site(bp):32333839End Site(bp):32336233
External Links:ENSG00000175130



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
ABCD4
chr14
74285269
74303055
-
ABCF3
chr3
184186023
184194012
+
AC005832.4
chr12
4604944
4662643
+
AC008581.2
chr5
77030902
77152155
+
AC008982.1
chr19
38817471
38840178
-
AC010422.3
chr19
12643831
12648397
-
AC011448.1
chr19
19516227
19536076
+
AC012254.2
chr18
47108188
47176345
-
AC091959.3
chr5
146203550
146339251
+
ACAA1
chr3
38103129
38137242
-
ACACA
chr17
37084992
37406836
-
ACD
chr16
67657512
67660815
-
ACIN1
chr14
23058564
23095614
-
ACO2
chr22
41469117
41528989
+
ACTB
chr7
5527148
5563784
-
ACTG1
chr17
81509971
81523847
-
ACTR3
chr2
113890063
113962596
+
ADAM17
chr2
9488486
9556732
-
ADAMTS13
chr9
133414358
133459402
+
ADAMTS2
chr5
179110853
179345461
-
ADD1
chr4
2843857
2930076
+
ADIPOR1
chr1
202940826
202958572
-
AGGF1
chr5
77029251
77065234
+
AGL
chr1
99850361
99924023
+
AHDC1
chr1
27534035
27604431
-
AIF1L
chr9
131096476
131123152
+
AKT1
chr14
104769349
104795751
-
AL136454.1
chr1
192716132
192716653
+
AL365205.1
chr6
41780349
41790141
+
AL807752.6
chr9
137031241
137040436
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-let-7a-5p
chr9
94175962
94175983
+
hsa-let-7b-5p
chr22
46113691
46113712
+
hsa-let-7g-5p
chr3
52268336
52268357
-
hsa-miR-541-3p
chr14
101064548
101064569
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC026362.1
chr12
122975320
122982907
+
AC060780.1
chr17
43148368
43171037
-
AC067852.2
chr17
42552436
42554748
-
AC069281.2
chr7
100572232
100578700
-
AC097359.2
chr3
37241789
37244177
-
AC104257.1
chr8
131308545
131317632
+
AC112229.4
chr2
110386411
110433673
-
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.