exRNAdisease

Entry Detail

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General Information

Database ID: exR0003429 RNA Name: CTNND1 RNA Type: mRNA Chromosome: chr11 Starnd: + Coordinate: Start Site(bp): 57753243 End Site(bp): 57819546 External Links: ENSG00000198561

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 AC004922.1 chr7 99325879 99394653 + AC009133.6 chr16 29812261 29820092 + AC012254.2 chr18 47108188 47176345 - AC138811.2 chr16 18788063 18801519 - AC245033.1 chr15 82536788 82573194 - ACKR3 chr2 236567787 236582354 + ACTG1 chr17 81509971 81523847 - ACTR8 chr3 53867066 53882152 - ADGRV1 chr5 90529344 91164437 + AHCTF1 chr1 246839098 246931967 - AL136454.1 chr1 192716132 192716653 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-31-5p chr9 21512158 21512178 - hsa-miR-200c-3p chr12 6963742 6963764 + hsa-miR-490-3p chr7 136903242 136903263 + hsa-miR-423-5p chr17 30117095 30117117 + hsa-miR-4709-5p chr14 74480175 74480196 - hsa-miR-7705 chr8 100703002 100703024 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC010680.3 chr2 178577103 178577622 + AC012485.1 chr2 238231684 238255633 + AC051619.7 chr15 45200325 45200632 - AC125807.2 chr12 3041437 3044950 + AC132217.1 chr11 2129121 2129964 - 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.