exRNAdisease

Entry Detail

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General Information

Database ID: exR0001999 RNA Name: CAPNS1 RNA Type: mRNA Chromosome: chr19 Starnd: + Coordinate: Start Site(bp): 36139953 End Site(bp): 36150353 External Links: ENSG00000126247

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 ABCG2 chr4 88090150 88231628 - AC007192.1 chr19 18153158 18178117 + AC009690.1 chr15 72284727 72375981 - AC010422.3 chr19 12643831 12648397 - AC093525.1 chr16 2513965 2527955 + AC099811.2 chr17 42119674 42154916 - ACAP1 chr17 7336529 7351477 + ACBD6 chr1 180269653 180502954 - ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ACYP2 chr2 53970838 54305300 + ADAM9 chr8 38996869 39105261 + AKAP8L chr19 15380050 15419141 - AKR1A1 chr1 45550543 45570049 + AL117348.2 chr1 225886696 225924278 - AL136454.1 chr1 192716132 192716653 + ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-99a-5p chr21 16539101 16539122 + hsa-miR-100-5p chr11 122152275 122152296 - hsa-miR-147a chr9 120244985 120245004 - hsa-miR-206 chr6 52144401 52144422 + hsa-miR-99b-5p chr19 51692618 51692639 + hsa-miR-769-5p chr19 46018961 46018982 + hsa-miR-4426 chr1 192716333 192716349 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC245014.3 chr1 145281116 145281462 + AD000090.1 chr19 35557956 35581954 + AL022311.1 chr22 37876148 37895563 + 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.