exRNAdisease

Entry Detail

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General Information

Database ID: exR0078082 RNA Name: NUP62 RNA Type: mRNA Chromosome: chr19 Starnd: - Coordinate: Start Site(bp): 49906825 End Site(bp): 49929763 External Links: ENSG00000213024

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 ABRACL chr6 139028745 139043302 + AC007192.1 chr19 18153158 18178117 + AC010422.3 chr19 12643831 12648397 - AC011462.1 chr19 41350853 41425001 + AC068946.2 chr2 219209772 219222738 - AC138696.1 chr8 143247110 143276403 + ACAA2 chr18 49782164 49813953 - ACACA chr17 37084992 37406836 - ACADVL chr17 7217125 7225266 + ACAP3 chr1 1292390 1309609 - ACIN1 chr14 23058564 23095614 - ACSF3 chr16 89088375 89164121 + ACTB chr7 5527148 5563784 - ADGRE5 chr19 14380501 14408725 + ADGRL1 chr19 14147743 14206187 - AFF2 chrX 148500617 149000663 + AGAP3 chr7 151085831 151144436 + AGO3 chr1 35930718 36072500 + AKAP8L chr19 15380050 15419141 - AKT2 chr19 40230317 40285536 - miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC002470.2 chr22 20979462 20998121 + AC004812.2 chr12 120116907 120119000 + AC073957.2 chr7 1055360 1059261 - AC091271.1 chr17 59618553 59619714 - AF131216.3 chr8 11345748 11347502 - 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