exRNAdisease

Entry Detail

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General Information

Database ID: exR0080595 RNA Name: RPL30 RNA Type: mRNA Chromosome: chr8 Starnd: - Coordinate: Start Site(bp): 98024851 End Site(bp): 98046469 External Links: ENSG00000156482

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 AC004922.1 chr7 99325879 99394653 + AC010422.3 chr19 12643831 12648397 - AC069503.2 chr12 121888809 121921470 + AC073508.2 chr17 40627356 40665141 - AC090517.4 chr15 56652488 56918571 - AC120057.2 chr17 7240427 7244635 - AC245033.1 chr15 82536788 82573194 - ACADM chr1 75724347 75787575 + ACAT2 chr6 159762045 159779112 + ACSL3 chr2 222860942 222944639 + ACTB chr7 5527148 5563784 - ACTR1A chr10 102461881 102502712 - ADSL chr22 40346500 40390463 + AGTRAP chr1 11736084 11754802 + AHCY chr20 34280268 34311802 - AICDA chr12 8602170 8612867 - AL022238.4 chr22 40346529 40410054 + AL136295.5 chr14 24147548 24166452 + AL138752.2 chr9 37588413 38068687 - AL513165.2 chr9 37512547 37592469 - AL713999.1 chr1 155169409 155187272 - ALDH18A1 chr10 95605941 95656711 - miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC027097.1 chr18 57630302 57669296 + AC027097.2 chr18 57639455 57738603 + AC105339.2 chr15 82752884 82757208 + AC245033.4 chr15 82533175 82540008 - AL132780.1 chr14 22929607 22956374 + 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