exRNAdisease

Entry Detail

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General Information

Database ID: exR0078703 RNA Name: PDIA6 RNA Type: mRNA Chromosome: chr2 Starnd: - Coordinate: Start Site(bp): 10783391 End Site(bp): 10837977 External Links: ENSG00000143870

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 AAGAB chr15 67200667 67255195 - AC008982.1 chr19 38817471 38840178 - AC010132.3 chr7 42909273 42932174 - AC015813.2 chr17 57989038 58007246 - AC018523.2 chr11 14493783 14520344 - AC046185.1 chr17 63702845 63752097 - AC079447.1 chr2 99141485 99322741 + AC087289.3 chr17 75898645 75930129 - AC092587.1 chr2 99154998 99195298 + AC138894.1 chr16 28456371 28492098 - ACLY chr17 41866917 41930542 - ACTG1 chr17 81509971 81523847 - AGRN chr1 1020120 1056118 + AHCYL1 chr1 109984765 110023742 + AIDA chr1 222668013 222713210 - AL136295.5 chr14 24147548 24166452 + AL136454.1 chr1 192716132 192716653 + AL645941.2 chr6 32937364 32953122 - ALDH9A1 chr1 165662216 165698863 - ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-4426 chr1 192716333 192716349 + hsa-miR-4700-5p chr12 120723202 120723223 + hsa-miR-4700-3p chr12 120723233 120723258 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC016876.2 chr17 7581964 7584086 - AC245014.3 chr1 145281116 145281462 + 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