exRNAdisease

Entry Detail

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General Information

Database ID: exR0079206 RNA Name: PODXL RNA Type: mRNA Chromosome: chr7 Starnd: - Coordinate: Start Site(bp): 131500262 End Site(bp): 131558217 External Links: ENSG00000128567

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 + AC005943.1 chr19 1578339 1605445 - AC010422.3 chr19 12643831 12648397 - AC073508.2 chr17 40627356 40665141 - AC091167.2 chr15 90249556 90272208 + AC118553.2 chr1 99970011 100083321 + AC135050.2 chr16 31083439 31094956 - ACAA2 chr18 49782164 49813953 - ACAD8 chr11 134253495 134265855 + ACP1 chr2 264140 278283 + ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ACTR1A chr10 102461881 102502712 - ADCY3 chr2 24819169 24919839 - ADD3 chr10 109996368 110135565 + AFDN chr6 167826922 167972023 + AHCY chr20 34280268 34311802 - AIF1L chr9 131096476 131123152 + AKT1 chr14 104769349 104795751 - AKT1S1 chr19 49869033 49878459 - AL133352.1 chr10 100505628 100529881 - AL162417.1 chr9 133098121 133163914 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-103a-3p chr5 168560904 168560926 - hsa-miR-4709-5p chr14 74480175 74480196 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC016876.2 chr17 7581964 7584086 - 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