exRNAdisease

Entry Detail

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General Information

Database ID: exR0080888 RNA Name: SCAMP2 RNA Type: mRNA Chromosome: chr15 Starnd: - Coordinate: Start Site(bp): 74843730 End Site(bp): 74873365 External Links: ENSG00000140497

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 - AC068580.4 chr11 1734821 1763954 - AC092073.1 chr19 34396315 34409364 + AC138811.2 chr16 18788063 18801519 - AC245033.1 chr15 82536788 82573194 - ACADVL chr17 7217125 7225266 + ACTB chr7 5527148 5563784 - AGPAT3 chr21 43865223 43987592 + ALDH18A1 chr10 95605941 95656711 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-17-5p chr13 91350618 91350640 + hsa-miR-20a-5p chr13 91351072 91351094 + hsa-miR-106a-5p chrX 134170244 134170266 - hsa-miR-124-3p chr8 64379210 64379231 + hsa-miR-130a-3p chr11 57641252 57641273 + hsa-miR-106b-5p chr7 100094043 100094063 - hsa-miR-302a-3p chr4 112648186 112648208 - hsa-miR-130b-3p chr22 21653354 21653375 + hsa-miR-373-3p chr19 53788748 53788770 + hsa-miR-520e-3p chr19 53675764 53675784 + hsa-miR-519b-3p chr19 53695263 53695284 + hsa-miR-520d-3p chr19 53720149 53720170 + hsa-miR-423-5p chr17 30117095 30117117 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC026471.1 chr16 31456711 31459736 - AC245033.4 chr15 82533175 82540008 - 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