exRNAdisease

Entry Detail

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General Information

Database ID: exR0000285 RNA Name: ADCY2 RNA Type: mRNA Chromosome: chr5 Starnd: + Coordinate: Start Site(bp): 7396138 End Site(bp): 7830081 External Links: ENSG00000078295

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 RTN4 chr2 54972187 55112621 - RBBP5 chr1 205086142 205122015 - DMAC1 chr9 7796500 7888380 - HIPK2 chr7 139561570 139777998 - GDI2 chr10 5765223 5842132 - TUFT1 chr1 151540305 151583583 + ACTR1B chr2 97655939 97664044 - NAP1L1 chr12 76036585 76084958 - KREMEN2 chr16 2964216 2968383 + RASSF8 chr12 25959029 26079892 + CTSV chr9 97029677 97039643 - SH3BP4 chr2 234952017 235055714 + ZSCAN10 chr16 3088890 3099295 - PHB2 chr12 6965327 6970753 - ADCY5 chr3 123282296 123449758 - SDCBP chr8 58552924 58582859 + CRABP1 chr15 78340353 78348225 + HSP90AB1 chr6 44246166 44253888 + LIN28A chr1 26410817 26429728 + DSG2 chr18 31498177 31549008 + AURKAIP1 chr1 1373730 1375495 - OGG1 chr3 9749944 9788219 + APEH chr3 49674014 49683971 + GNAS chr20 58839718 58911192 + PSMD10 chrX 108084207 108091549 - SF3B1 chr2 197388515 197435091 - PANK1 chr10 89579497 89645572 - MYL6 chr12 56158161 56163496 + ANAPC15 chr11 72106378 72112780 - YWHAE chr17 1344275 1400222 - miRNA targets: NA circRNA targets: NA lncRNA targets: NA 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.