exRNAdisease

Entry Detail

---



General Information

Database ID: exR0083919 RNA Name: UBALD2 RNA Type: mRNA Chromosome: chr17 Starnd: + Coordinate: Start Site(bp): 76265348 End Site(bp): 76271298 External Links: ENSG00000185262

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 AATF chr17 36948954 37056871 + ABCA3 chr16 2275881 2340746 - AC005943.1 chr19 1578339 1605445 - AC008763.3 chr19 7678501 7682854 + AC010422.3 chr19 12643831 12648397 - AC011511.1 chr19 10305427 10316009 - AC024592.3 chr19 5866171 5903787 - AC092647.5 chr7 55887277 55955239 + AC093525.1 chr16 2513965 2527955 + ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ADPRHL2 chr1 36088892 36093932 + AFF1 chr4 86935002 87141054 + AGER chr6 32180968 32184322 - AGO1 chr1 35869808 35930532 + AHCY chr20 34280268 34311802 - AKAP8L chr19 15380050 15419141 - AKNA chr9 114334156 114394405 - AL136531.2 chr20 1317571 1393096 - AL928654.3 chr14 105487199 105492267 + ALDOA chr16 30064164 30070457 + miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC004687.1 chr17 58330884 58332508 - AC067852.2 chr17 42552436 42554748 - AL021707.2 chr22 38667585 38681847 - 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