exRNAdisease

Entry Detail

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General Information

Database ID: exR0083941 RNA Name: UBE2G2 RNA Type: mRNA Chromosome: chr21 Starnd: - Coordinate: Start Site(bp): 44768580 End Site(bp): 44801826 External Links: ENSG00000184787

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 AC010323.1 chr19 8308283 8321379 - AC116366.3 chr5 132410832 132646079 + ADO chr10 62804720 62808479 + AFG3L2 chr18 12328944 12377227 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-let-7a-5p chr9 94175962 94175983 + hsa-let-7b-5p chr22 46113691 46113712 + hsa-let-7d-5p chr9 94178841 94178862 + hsa-let-7e-5p chr19 51692793 51692814 + hsa-let-7f-5p chrX 53557246 53557267 - hsa-let-7g-5p chr3 52268336 52268357 - hsa-let-7i-5p chr12 62603691 62603712 + hsa-miR-512-3p chr19 53666729 53666750 + hsa-miR-1224-5p chr3 184241405 184241423 + hsa-miR-1294 chr5 154347153 154347174 + hsa-miR-1321 chrX 85835832 85835849 + circRNA targets: NA lncRNA targets: NA 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