exRNAdisease

Entry Detail

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General Information

Database ID: exR0000288 RNA Name: ADCY5 RNA Type: mRNA Chromosome: chr3 Starnd: - Coordinate: Start Site(bp): 123282296 End Site(bp): 123449758 External Links: ENSG00000173175

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 RPS6 chr9 19375715 19380236 - PELP1 chr17 4669774 4704337 - PHF3 chr6 63635820 63779336 + AC010422.3 chr19 12643831 12648397 - GCN1 chr12 120127202 120194715 - PINK1 chr1 20633458 20651511 + TUBB2A chr6 3153666 3157544 - HSP90AA1 chr14 102080738 102139699 - GPRC5C chr17 74424851 74451653 + RHOB chr2 20447074 20449440 + LRFN3 chr19 35935358 35946624 + AC008878.1 chr19 7507052 7519622 + DGKZ chr11 46332905 46380554 + AL136295.5 chr14 24147548 24166452 + MRPL36 chr5 1798385 1801366 - RPL3 chr22 39312882 39320389 - ICE2 chr15 60419609 60479160 - FAM83D chr20 38926312 38953106 + STK39 chr2 167954020 168247595 - THOC5 chr22 29505879 29555216 - ACOT7 chr1 6264269 6394391 - JPT2 chr16 1678256 1702280 + ZNF358 chr19 7515292 7521025 + TUBA1B chr12 49127782 49131397 - SKAP2 chr7 26667068 26995239 - RCC2 chr1 17406760 17439677 - ZNF253 chr19 19865882 19894674 + SLC37A3 chr7 140293693 140404433 - STK10 chr5 172042079 172188224 - RPL8 chr8 144789765 144792587 - miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC092902.2 chr3 125774714 125797953 + 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.