exRNAdisease

Entry Detail

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General Information

Database ID: exR0081123 RNA Name: SET RNA Type: mRNA Chromosome: chr9 Starnd: + Coordinate: Start Site(bp): 128683424 End Site(bp): 128696400 External Links: ENSG00000119335

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 + ABCB8 chr7 151028422 151047782 + ABCC6 chr16 16148928 16223522 - AC007846.2 chr17 5772926 6080792 + AC010463.1 chr19 17267418 17282966 + AC012254.2 chr18 47108188 47176345 - AC138811.2 chr16 18788063 18801519 - ACACA chr17 37084992 37406836 - ACBD3 chr1 226144679 226186741 - ACTB chr7 5527148 5563784 - ACTN4 chr19 38647649 38731589 + ADM chr11 10305073 10307397 + AGO3 chr1 35930718 36072500 + AHCYL1 chr1 109984765 110023742 + AKAP12 chr6 151239967 151358559 + AL139011.2 chr1 160216800 160285130 - AL590132.1 chr1 210858125 211134146 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-3648 chr21 8987026 8987046 + hsa-miR-6728-3p chr1 8866502 8866522 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC016876.2 chr17 7581964 7584086 - AC023509.1 chr12 53441741 53467528 + AC124068.2 chr15 89335053 89336161 + AL121985.1 chr1 160670778 160699761 + 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