exRNAdisease

Entry Detail

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General Information

Database ID: exR0077448 RNA Name: NASP RNA Type: mRNA Chromosome: chr1 Starnd: + Coordinate: Start Site(bp): 45583846 End Site(bp): 45618904 External Links: ENSG00000132780

Disease Information

Disease Name: Fragile X Syndrome Disease Category: Congenital, Hereditary, and Neonatal Diseases and Abnormalities MeSH ID: D005600 Type: Diseases Category/Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alias: Fragile X Syndromes//Syndrome, Fragile X//Syndromes, Fragile X//Marker X Syndrome//Marker X Syndromes//Syndrome, Marker X//Syndromes, Marker X//Mental Retardation, X-Linked, Associated With Marxq28//X-Linked Mental Retardation and Macroorchidism//X Linked Mental Retardation and Macroorchidism//Fragile X Mental Retardation Syndrome//Martin-Bell Syndrome//Martin Bell Syndrome//Syndrome, Martin-Bell//Fra(X) Syndrome//FRAXE Syndrome//FRAXE Syndromes//Syndrome, FRAXE//Syndromes, FRAXE//Mental Retardation, X-Linked, Associated With Fragile Site Fraxe//Fragile X-F Mental Retardation Syndrome//Mar (X) Syndrome//FRAXA Syndrome//FRAXA Syndromes//Syndrome, FRAXA//Syndromes, FRAXA

Expression Detail

GEO ID: GSE83556 Description: Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions Experimental Design: Disease vs Control Case Disease Type: Fragile X Syndrome Case Disease SubType: NA Case Sample: Fragile X Syndrome Control Sample: Normal Number of Case: 22 Number of Control: 18 Number of Samples: 40

Regulatory Relationship

mRNA targets: Gene Symbol Chromosome Start Site(bp) End Site(bp) Strand AASS chr7 122073549 122144255 - ABCD1 chrX 153724856 153744755 + AC004922.1 chr7 99325879 99394653 + AC004997.1 chr22 30285238 30299482 - AC010422.3 chr19 12643831 12648397 - AC011455.2 chr19 38915404 38949855 - AC011462.1 chr19 41350853 41425001 + AC027644.4 chr7 66628958 66811189 + ACLY chr17 41866917 41930542 - ACTG1 chr17 81509971 81523847 - ADAR chr1 154582057 154628013 - ADGRA1 chr10 133070929 133131675 + AGFG1 chr2 227472152 227561214 + AHNAK chr11 62433542 62556235 - AKIRIN1 chr1 38991276 39006059 + AL133352.1 chr10 100505628 100529881 - AL365205.1 chr6 41780349 41790141 + ALDH4A1 chr1 18871430 18902724 - ALDH7A1 chr5 126531200 126595362 - 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-29b-3p chr7 130877467 130877489 - hsa-miR-29c-3p chr1 207801865 207801886 - hsa-miR-492 chr12 94834427 94834449 + hsa-miR-5703 chr2 227472162 227472179 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC132217.1 chr11 2129121 2129964 - AD000090.1 chr19 35557956 35581954 + Display:

Experiment Detail

GEO ID: GSE83556 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: RNA was extracted from 5-15 mL amniotic fluid supernatant (centrifugation at 350g, 4C, 10, min). RNA Extract protocol: All samples were processed using the Qiagen Circulating Nucleic Acid kit with an on-column DNase digestion step to remove genomic DNA. The RNA was then purified and concentrated with the RNeasy MinElute Clean up kit and eluted in RNasefree water. RNA library preparation protocol: RNA was converted to cDNA and amplified using the Ovation Pico WTA kit V2 and then purified with the QIAquick PCR Purification kit. Samples were labeled using the Encore Biotin Module (NuGEN, San Carlos, CA)Samples were labeled using the Encore Biotin Module (NuGEN, San Carlos, CA).

Reference

PMID: NA Title: NA Author: NA Journal: NA Description: NA