exRNAdisease

Entry Detail

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General Information

Database ID: exR0077322 RNA Name: MYL6 RNA Type: mRNA Chromosome: chr12 Starnd: + Coordinate: Start Site(bp): 56158161 End Site(bp): 56163496 External Links: ENSG00000092841

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 AAAS chr12 53307456 53324864 - AC005258.1 chr19 2269525 2341172 + AC006064.6 chr12 6556886 6607367 - AC008581.2 chr5 77030902 77152155 + AC010422.3 chr19 12643831 12648397 - AC011448.1 chr19 19516227 19536076 + AC023055.1 chr12 55757275 55827546 - AC092143.1 chr16 89919165 89936092 + AC138811.2 chr16 18788063 18801519 - ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ACTN4 chr19 38647649 38731589 + ADCY2 chr5 7396138 7830081 + ADIPOR2 chr12 1688574 1788674 + AEN chr15 88621337 88632281 + AGGF1 chr5 77029251 77065234 + AKR1B1 chr7 134442356 134459284 - AKT1S1 chr19 49869033 49878459 - AL049629.2 chr11 33698261 33722467 - AL136454.1 chr1 192716132 192716653 + ALAS1 chr3 52198086 52214327 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-3654 chr7 133034860 133034878 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC026362.1 chr12 122975320 122982907 + AC091564.7 chr11 6610883 6616594 - AC129926.1 chr17 27237859 27241661 - AC132217.1 chr11 2129121 2129964 - 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