exRNAdisease

Entry Detail

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General Information

Database ID: exR0080197 RNA Name: RCC2 RNA Type: mRNA Chromosome: chr1 Starnd: - Coordinate: Start Site(bp): 17406760 End Site(bp): 17439677 External Links: ENSG00000179051

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 AC002996.1 chr12 111753890 111791418 + AC007192.1 chr19 18153158 18178117 + AC010422.3 chr19 12643831 12648397 - AC091167.2 chr15 90249556 90272208 + AC097637.1 chr3 52221081 52231190 - ACTA1 chr1 229431245 229434098 - ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ADCY5 chr3 123282296 123449758 - ADD3 chr10 109996368 110135565 + AL133352.1 chr10 100505628 100529881 - AL136454.1 chr1 192716132 192716653 + ALDH18A1 chr10 95605941 95656711 - ALDH1B1 chr9 38392702 38398661 + ALDH2 chr12 111766887 111817532 + ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-7-5p chr19 4770700 4770723 + hsa-miR-204-5p chr9 70810031 70810052 - hsa-miR-211-5p chr15 31065095 31065116 - hsa-miR-149-5p chr2 240456015 240456037 + hsa-miR-485-5p chr14 101055427 101055448 + hsa-miR-519c-5p chr19 53686484 53686505 + hsa-miR-620 chr12 116148575 116148594 - hsa-miR-519b-5p chr19 53695225 53695246 + hsa-miR-1270 chr19 20399320 20399342 - hsa-miR-4468 chr7 138123803 138123820 + 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