exRNAdisease

Entry Detail

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General Information

Database ID: exR0084139 RNA Name: USP24 RNA Type: mRNA Chromosome: chr1 Starnd: - Coordinate: Start Site(bp): 55066359 End Site(bp): 55215364 External Links: ENSG00000162402

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 AC008878.3 chr19 7382834 7470241 + AL121845.3 chr20 63708864 63739103 + AL590132.1 chr1 210858125 211134146 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-20a-5p chr13 91351072 91351094 + hsa-miR-92a-3p chrX 134169544 134169565 - hsa-miR-106b-5p chr7 100094043 100094063 - hsa-miR-302a-3p chr4 112648186 112648208 - hsa-miR-302d-3p chr4 112648006 112648028 - hsa-miR-373-3p chr19 53788748 53788770 + hsa-miR-520e-3p chr19 53675764 53675784 + hsa-miR-520a-3p chr19 53690933 53690954 + hsa-miR-520d-3p chr19 53720149 53720170 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC002310.1 chr16 30534752 30537149 + 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