exRNAdisease

Entry Detail

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General Information

Database ID: exR0077908 RNA Name: NPTX1 RNA Type: mRNA Chromosome: chr17 Starnd: - Coordinate: Start Site(bp): 80466834 End Site(bp): 80477843 External Links: ENSG00000171246

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 AASS chr7 122073549 122144255 - ACACA chr17 37084992 37406836 - ACTB chr7 5527148 5563784 - ACVR1B chr12 51951699 51997078 + AHCYL2 chr7 129225023 129430211 + AKR1A1 chr1 45550543 45570049 + AKR7A2 chr1 19303965 19312146 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-92a-3p chrX 134169544 134169565 - hsa-miR-34c-5p chr11 111513451 111513473 + hsa-miR-301a-3p chr17 59151149 59151171 - hsa-miR-363-3p chrX 134169382 134169403 - hsa-miR-367-3p chr4 112647877 112647898 - hsa-miR-346 chr10 86264747 86264769 - hsa-miR-449a chr5 55170586 55170607 - hsa-miR-493-3p chr14 100869116 100869137 + hsa-miR-92b-3p chr1 155195237 155195258 + hsa-miR-449b-5p chr5 55170706 55170727 - hsa-miR-1224-5p chr3 184241405 184241423 + hsa-miR-1286 chr22 20249145 20249165 - hsa-miR-6818-3p chr22 30007092 30007113 + 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