exRNAdisease

Entry Detail

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General Information

Database ID: exR0008353 RNA Name: MAZ RNA Type: mRNA Chromosome: chr16 Starnd: + Coordinate: Start Site(bp): 29806106 End Site(bp): 29811164 External Links: ENSG00000103495

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 AATF chr17 36948954 37056871 + AC008982.1 chr19 38817471 38840178 - AC010422.3 chr19 12643831 12648397 - AC010522.1 chr19 57819719 57858941 + AC114490.3 chr1 34974356 34985313 - AC124312.1 chr15 24955034 25000276 + AC131160.1 chr3 183815568 183884889 - AC245033.1 chr15 82536788 82573194 - ACAD9 chr3 128879596 128916067 + ACOX1 chr17 75941507 75979177 - ACTG1 chr17 81509971 81523847 - ACTR1B chr2 97655939 97664044 - ACVR1 chr2 157736444 157876330 - ADGRA3 chr4 22345071 22516066 - ADIPOR1 chr1 202940826 202958572 - AFDN chr6 167826922 167972023 + AGAP3 chr7 151085831 151144436 + AGBL5 chr2 27042364 27070622 + AGPAT3 chr21 43865223 43987592 + AHDC1 chr1 27534035 27604431 - AK2 chr1 33007940 33080996 - AKAP11 chr13 42272152 42323261 + AL121753.1 chr20 35267885 35280043 - AL139011.2 chr1 160216800 160285130 - AL162417.1 chr9 133098121 133163914 - AL928654.3 chr14 105487199 105492267 + ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-29a-3p chr7 130876748 130876769 - hsa-miR-92a-3p chrX 134169544 134169565 - hsa-miR-1181 chr19 10403505 10403525 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC007952.4 chr17 19112000 19112636 - AC009133.1 chr16 29808636 29821252 - AC009133.5 chr16 29808679 29812227 + AC011445.1 chr19 39314651 39320858 - AC016876.2 chr17 7581964 7584086 - AC026362.1 chr12 122975320 122982907 + AC026464.2 chr16 69463844 69466264 + AC132217.1 chr11 2129121 2129964 - AC245014.3 chr1 145281116 145281462 + AC245033.4 chr15 82533175 82540008 - AD000090.1 chr19 35557956 35581954 + 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.