exRNAdisease

Entry Detail

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General Information

Database ID: exR0079922 RNA Name: RAB1B RNA Type: mRNA Chromosome: chr11 Starnd: + Coordinate: Start Site(bp): 66268590 End Site(bp): 66277492 External Links: ENSG00000174903

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 ABHD16A chr6 31686955 31703356 - ABTB2 chr11 34150987 34358010 - AC010422.3 chr19 12643831 12648397 - AC020909.1 chr19 50415799 50428409 + ACAT2 chr6 159762045 159779112 + ACTN4 chr19 38647649 38731589 + ACTR5 chr20 38748460 38772520 + ADAM19 chr5 157395534 157575775 - AICDA chr12 8602170 8612867 - AK2 chr1 33007940 33080996 - AKR1A1 chr1 45550543 45570049 + AL121594.1 chr14 35122549 35317474 + AL136295.5 chr14 24147548 24166452 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-122-5p chr18 58451088 58451109 + hsa-miR-185-5p chr22 20033153 20033174 + hsa-miR-650 chr22 22822791 22822811 + hsa-miR-654-5p chr14 101040234 101040255 + hsa-miR-1321 chrX 85835832 85835849 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC023509.1 chr12 53441741 53467528 + AC079807.1 chr2 47905678 47907810 + AC106886.2 chr16 30740667 30751381 + 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