exRNAdisease

Entry Detail

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General Information

Database ID: exR0075583 RNA Name: KHSRP RNA Type: mRNA Chromosome: chr19 Starnd: - Coordinate: Start Site(bp): 6413348 End Site(bp): 6424794 External Links: ENSG00000088247

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 AACS chr12 125065434 125143333 + AC010422.3 chr19 12643831 12648397 - AC090360.1 chr18 80034346 80097088 + ACOT7 chr1 6264269 6394391 - ACTB chr7 5527148 5563784 - ADRM1 chr20 62302093 62308862 + AFDN chr6 167826922 167972023 + AGPS chr2 177392757 177559299 + AGRN chr1 1020120 1056118 + AHCY chr20 34280268 34311802 - AJAP1 chr1 4654609 4792534 + AK4 chr1 65147549 65232145 + AKR7A2 chr1 19303965 19312146 - AL121594.1 chr14 35122549 35317474 + ALDH9A1 chr1 165662216 165698863 - ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-96-5p chr7 129774739 129774761 - hsa-miR-182-5p chr7 129770447 129770470 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC007952.4 chr17 19112000 19112636 - AC016876.2 chr17 7581964 7584086 - AC105036.3 chr15 75527150 75601205 - AC132217.1 chr11 2129121 2129964 - AD000090.1 chr19 35557956 35581954 + AL020995.1 chr1 32987075 33032469 + AL121827.2 chr20 63253978 63261615 + 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