exRNAdisease

Entry Detail

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General Information

Database ID: exR0006695 RNA Name: IFI30 RNA Type: mRNA Chromosome: chr19 Starnd: + Coordinate: Start Site(bp): 18173162 End Site(bp): 18178117 External Links: ENSG00000216490

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 Symbol Chromosome Start Site(bp) End Site(bp) Strand ABCC4 chr13 95019835 95301475 - ABCF1 chr6 30571393 30597179 + ABHD12 chr20 25294742 25390835 - AC004922.1 chr7 99325879 99394653 + AC007192.1 chr19 18153158 18178117 + AC010422.3 chr19 12643831 12648397 - AC091167.2 chr15 90249556 90272208 + AC245033.1 chr15 82536788 82573194 - ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ADAM8 chr10 133262420 133276868 - ADAR chr1 154582057 154628013 - ADD1 chr4 2843857 2930076 + ADORA2A chr22 24417879 24442357 + ADPRM chr17 10697594 10711558 + ADSL chr22 40346500 40390463 + AHCY chr20 34280268 34311802 - AK2 chr1 33007940 33080996 - AL022238.4 chr22 40346529 40410054 + miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC022167.2 chr16 8848105 8860456 + AC064807.1 chr8 51899268 51949874 + AC083799.1 chr3 129847048 129847957 - AC245033.4 chr15 82533175 82540008 - AD000090.1 chr19 35557956 35581954 + AL022311.1 chr22 37876148 37895563 + 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.