exRNAdisease

Entry Detail

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General Information

Database ID: exR0082536 RNA Name: SYVN1 RNA Type: mRNA Chromosome: chr11 Starnd: - Coordinate: Start Site(bp): 65121780 End Site(bp): 65134533 External Links: ENSG00000162298

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 ACIN1 chr14 23058564 23095614 - ACSS1 chr20 25006230 25058980 - ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - AGBL5 chr2 27042364 27070622 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-148a-3p chr7 25949922 25949943 - hsa-miR-150-5p chr19 49500832 49500853 - hsa-miR-148b-3p chr12 54337278 54337299 + hsa-miR-324-3p chr17 7223308 7223330 - hsa-miR-483-3p chr11 2134142 2134162 - hsa-miR-512-3p chr19 53666729 53666750 + hsa-miR-642a-5p chr19 45674943 45674964 + hsa-miR-663a chr20 26208243 26208264 - hsa-miR-423-5p chr17 30117095 30117117 + hsa-miR-541-3p chr14 101064548 101064569 + hsa-miR-744-5p chr17 12081909 12081930 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC005899.4 chr17 32328441 32329395 + AC139149.1 chr17 81514047 81527776 + AD000090.1 chr19 35557956 35581954 + AL136985.3 chr1 58715609 58771295 + 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