exRNAdisease

Entry Detail

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General Information

Database ID: exR0079334 RNA Name: PPIA RNA Type: mRNA Chromosome: chr7 Starnd: + Coordinate: Start Site(bp): 44796680 End Site(bp): 44824564 External Links: ENSG00000196262

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 ABHD10 chr3 111979010 111993368 + ABLIM1 chr10 114431113 114768061 - AC011005.1 chr7 129126518 129130793 + AC011462.1 chr19 41350853 41425001 + AC068946.1 chr2 219075329 219170827 - ACAA2 chr18 49782164 49813953 - ACPP chr3 132317369 132368298 + ACTA1 chr1 229431245 229434098 - ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ADIPOR1 chr1 202940826 202958572 - ADIPOR2 chr12 1688574 1788674 + ADK chr10 74151202 74709963 + AFMID chr17 78187317 78207701 + AGL chr1 99850361 99924023 + AL136454.1 chr1 192716132 192716653 + AL713999.1 chr1 155169409 155187272 - ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-4426 chr1 192716333 192716349 + hsa-miR-6850-5p chr8 144791970 144791991 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC018521.1 chr17 47945424 47981736 + AC067852.1 chr17 42536510 42562062 + AC091729.3 chr7 1160374 1165607 + 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