exRNAdisease

Entry Detail

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General Information

Database ID: exR0002700 RNA Name: CHD9 RNA Type: mRNA Chromosome: chr16 Starnd: + Coordinate: Start Site(bp): 53055033 End Site(bp): 53329150 External Links: ENSG00000177200

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 AC010422.3 chr19 12643831 12648397 - ACTN4 chr19 38647649 38731589 + ADGRL2 chr1 81306160 81992436 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-17-5p chr13 91350618 91350640 + hsa-miR-20a-5p chr13 91351072 91351094 + hsa-miR-93-5p chr7 100093815 100093837 - hsa-miR-106a-5p chrX 134170244 134170266 - hsa-miR-217-5p chr2 55983020 55983042 - hsa-miR-200b-3p chr1 1167160 1167181 + hsa-miR-130a-3p chr11 57641252 57641273 + hsa-miR-200c-3p chr12 6963742 6963764 + hsa-miR-106b-5p chr7 100094043 100094063 - hsa-miR-302a-3p chr4 112648186 112648208 - hsa-miR-130b-3p chr22 21653354 21653375 + hsa-miR-20b-5p chrX 134169850 134169872 - hsa-miR-520e-3p chr19 53675764 53675784 + hsa-miR-519c-3p chr19 53686522 53686543 + hsa-miR-519b-3p chr19 53695263 53695284 + hsa-miR-520b-3p chr19 53701267 53701287 + hsa-miR-520c-3p chr19 53707506 53707527 + hsa-miR-520d-3p chr19 53720149 53720170 + hsa-miR-454-3p chr17 59137787 59137809 - hsa-miR-1248 chr3 186786675 186786701 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC133644.3 chr2 87455476 87767359 + 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.