exRNAdisease

Entry Detail

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General Information

Database ID: exR0079748 RNA Name: PTBP1 RNA Type: mRNA Chromosome: chr19 Starnd: + Coordinate: Start Site(bp): 797075 End Site(bp): 812327 External Links: ENSG00000011304

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 AATF chr17 36948954 37056871 + ABCF1 chr6 30571393 30597179 + ABLIM1 chr10 114431113 114768061 - AC005943.1 chr19 1578339 1605445 - AC010132.3 chr7 42909273 42932174 - AC010422.3 chr19 12643831 12648397 - AC073508.2 chr17 40627356 40665141 - AC135050.2 chr16 31083439 31094956 - AC138811.2 chr16 18788063 18801519 - ACBD3 chr1 226144679 226186741 - ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ADAMTS8 chr11 130404923 130428609 - ADNP2 chr18 80109262 80147523 + AHCY chr20 34280268 34311802 - AHCYL1 chr1 109984765 110023742 + AHDC1 chr1 27534035 27604431 - AHR chr7 16916359 17346152 + AL136454.1 chr1 192716132 192716653 + AL136531.2 chr20 1317571 1393096 - ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-147a chr9 120244985 120245004 - hsa-miR-206 chr6 52144401 52144422 + hsa-miR-4523 chr17 29390668 29390688 + hsa-miR-4745-3p chr19 804977 804999 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC020928.2 chr19 36773712 36775908 - 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