exRNAdisease

Entry Detail

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General Information

Database ID: exR0008638 RNA Name: MLLT1 RNA Type: mRNA Chromosome: chr19 Starnd: - Coordinate: Start Site(bp): 6210381 End Site(bp): 6279975 External Links: ENSG00000130382

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 ABHD17C chr15 80679684 80755621 + AC007192.1 chr19 18153158 18178117 + AC010422.3 chr19 12643831 12648397 - AC092073.1 chr19 34396315 34409364 + ACIN1 chr14 23058564 23095614 - ACTN4 chr19 38647649 38731589 + ADCY3 chr2 24819169 24919839 - AGRN chr1 1020120 1056118 + AKT2 chr19 40230317 40285536 - ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-34a-5p chr1 9151735 9151756 - hsa-miR-124-3p chr8 64379210 64379231 + hsa-miR-130a-3p chr11 57641252 57641273 + hsa-miR-149-5p chr2 240456015 240456037 + hsa-miR-302a-3p chr4 112648186 112648208 - hsa-miR-34c-5p chr11 111513451 111513473 + hsa-miR-130b-3p chr22 21653354 21653375 + hsa-miR-373-3p chr19 53788748 53788770 + hsa-miR-449a chr5 55170586 55170607 - hsa-miR-512-3p chr19 53666729 53666750 + hsa-miR-520e-3p chr19 53675764 53675784 + hsa-miR-520d-3p chr19 53720149 53720170 + hsa-miR-449b-5p chr5 55170706 55170727 - hsa-miR-654-5p chr14 101040234 101040255 + hsa-miR-454-3p chr17 59137787 59137809 - hsa-miR-483-5p chr11 2134181 2134202 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC145285.6 chr16 28822431 28823969 - AD000090.1 chr19 35557956 35581954 + AF233439.1 chr8 6835535 6885276 + 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.