exRNAdisease

Entry Detail

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General Information

Database ID: exR0000290 RNA Name: ADCY7 RNA Type: mRNA Chromosome: chr16 Starnd: + Coordinate: Start Site(bp): 50246137 End Site(bp): 50318135 External Links: ENSG00000121281

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 ACTG1 chr17 81509971 81523847 - ADCY4 chr14 24318349 24335093 - CNTROB chr17 7932101 7949920 + FTL chr19 48965309 48966879 + GLUD1 chr10 87050202 87094843 - GSTP1 chr11 67583742 67586656 + HSPE1 chr2 197500140 197503449 + MRPS6 chr21 34073224 34143034 + PNMA8A chr19 46466491 46471563 - RPL4 chr15 66498015 66524532 - RPL7A chr9 133348218 133351426 + SBNO2 chr19 1107637 1174268 - SLC5A3 chr21 34073578 34106260 + SRGN chr10 69088103 69104805 + SYNGR2 chr17 78168558 78173527 + TMEM189-UBE2V1 chr20 50081124 50153637 - TPT1 chr13 45333471 45341370 - TTC38 chr22 46267961 46294008 + UBE2V1 chr20 50081124 50115959 - ZFP36L1 chr14 68787660 68796253 - ZHX3 chr20 41178448 41317672 - miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AP000317.2 chr21 34073592 34360033 + 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.