exRNAdisease

Entry Detail

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General Information

Database ID: exR0078409 RNA Name: PACS1 RNA Type: mRNA Chromosome: chr11 Starnd: + Coordinate: Start Site(bp): 66070272 End Site(bp): 66244744 External Links: ENSG00000175115

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 ABR chr17 1003518 1229738 - ABT1 chr6 26596953 26600739 + AC245033.1 chr15 82536788 82573194 - ACP1 chr2 264140 278283 + ADD2 chr2 70607618 70768225 - ADM chr11 10305073 10307397 + AL121753.1 chr20 35267885 35280043 - AL133352.1 chr10 100505628 100529881 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-let-7e-5p chr19 51692793 51692814 + hsa-miR-143-3p chr5 149428978 149428998 + hsa-miR-150-5p chr19 49500832 49500853 - hsa-miR-184 chr15 79209840 79209861 + hsa-miR-515-5p chr19 53685022 53685045 + hsa-miR-423-5p chr17 30117095 30117117 + hsa-miR-532-3p chrX 50003204 50003225 + hsa-miR-589-5p chr7 5495873 5495894 - hsa-miR-1321 chrX 85835832 85835849 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC110619.1 chr2 240449315 240456714 - AC245033.4 chr15 82533175 82540008 - AD000090.1 chr19 35557956 35581954 + 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