exRNAdisease

Entry Detail

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General Information

Database ID: exR0000412 RNA Name: AIF1 RNA Type: mRNA Chromosome: chr6 Starnd: + Coordinate: Start Site(bp): 31615217 End Site(bp): 31617021 External Links: ENSG00000204472

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 AACS chr12 125065434 125143333 + AC008403.1 chr19 48465837 48472431 + ANP32B chr9 97983341 98015943 + CCT7 chr2 73233420 73253021 + COX7A2L chr2 42333546 42425088 - CYTH2 chr19 48469208 48482314 + DAXX chr6 33318558 33323016 - GCK chr7 44143213 44198170 - IAH1 chr2 9473658 9496543 + LEF1 chr4 108047545 108168956 - NDUFA4 chr7 10931943 10940153 - NDUFB9 chr8 124539101 124580648 + RACK1 chr5 181236897 181248096 - RBPJ chr4 26163455 26435131 + RPL27A chr11 8682788 8714759 + RPL37A chr2 216498825 216579180 + RPLP2 chr11 809965 812880 + SIPA1L3 chr19 37907208 38208369 + SRP9 chr1 225777813 225790468 + TCF15 chr20 603797 610398 - TUBA1A chr12 49184795 49189080 - UQCC3 chr11 62670273 62673686 + ZNF322 chr6 26634383 26659752 - 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.