exRNAdisease

Entry Detail

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General Information

Database ID: exR0080607 RNA Name: RPL38 RNA Type: mRNA Chromosome: chr17 Starnd: + Coordinate: Start Site(bp): 74203582 End Site(bp): 74210655 External Links: ENSG00000172809

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 AC005258.1 chr19 2269525 2341172 + AC011462.1 chr19 41350853 41425001 + AC023055.1 chr12 55757275 55827546 - AC048338.1 chr12 122207779 122266423 - AC098484.3 chr1 42767292 42794493 + AC104109.3 chr5 134167170 134226071 - AC120057.2 chr17 7240427 7244635 - ACADVL chr17 7217125 7225266 + ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ACTL6A chr3 179562886 179588407 + ACTN4 chr19 38647649 38731589 + ACTR2 chr2 65227753 65271253 + ADCY1 chr7 45574140 45723116 + ADGRA3 chr4 22345071 22516066 - AEN chr15 88621337 88632281 + AHCY chr20 34280268 34311802 - AKAP7 chr6 131135467 131283535 + AKNA chr9 114334156 114394405 - ALAS1 chr3 52198086 52214327 + ALDH5A1 chr6 24494867 24537207 + miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC005618.1 chr5 141326210 141329357 + AC144548.1 chr12 110387463 110445548 - AD000090.1 chr19 35557956 35581954 + AL022311.1 chr22 37876148 37895563 + 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