exRNAdisease

Entry Detail

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General Information

Database ID: exR0077960 RNA Name: NRIP1 RNA Type: mRNA Chromosome: chr21 Starnd: - Coordinate: Start Site(bp): 14961235 End Site(bp): 15065936 External Links: ENSG00000180530

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 ACACB chr12 109116595 109268226 + ACTB chr7 5527148 5563784 - ACVR2B chr3 38453890 38493142 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-105-5p chrX 152394458 152394480 - hsa-miR-214-3p chr1 172138816 172138837 - hsa-miR-200c-3p chr12 6963742 6963764 + hsa-miR-362-5p chrX 50008968 50008991 + hsa-miR-324-5p chr17 7223343 7223364 - hsa-miR-520a-5p chr19 53690895 53690915 + hsa-miR-455-5p chr9 114209449 114209470 + hsa-miR-501-3p chrX 50009772 50009793 + hsa-miR-502-3p chrX 50014649 50014670 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AF127577.4 chr21 14818843 15014430 - 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