exRNAdisease

Entry Detail

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General Information

Database ID: exR0010178 RNA Name: PAICS RNA Type: mRNA Chromosome: chr4 Starnd: + Coordinate: Start Site(bp): 56435741 End Site(bp): 56464579 External Links: ENSG00000128050

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 AAK1 chr2 69457997 69674349 - AAR2 chr20 36236459 36270918 + ABHD18 chr4 127965306 128039927 + AC120057.2 chr17 7240427 7244635 - AC135050.2 chr16 31083439 31094956 - AC245033.1 chr15 82536788 82573194 - ACOT7 chr1 6264269 6394391 - ACSS1 chr20 25006230 25058980 - ACTR8 chr3 53867066 53882152 - ADA2 chr22 17178790 17258235 - ADD1 chr4 2843857 2930076 + ADI1 chr2 3497366 3519531 - AEN chr15 88621337 88632281 + AGO3 chr1 35930718 36072500 + AGPAT3 chr21 43865223 43987592 + AHCYL1 chr1 109984765 110023742 + AIMP2 chr7 6009255 6023834 + AK2 chr1 33007940 33080996 - ALDH9A1 chr1 165662216 165698863 - miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC005726.3 chr17 28573117 28574243 + AC016044.1 chr15 52800168 52805972 - AC020917.2 chr19 16440946 16443584 + AC022140.1 chr5 25404733 25445925 - AC093827.4 chr4 86924630 86936202 - AC105383.1 chr4 133075311 133149147 - 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.