exRNAdisease

Entry Detail

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General Information

Database ID: exR0081680 RNA Name: SLC7A5 RNA Type: mRNA Chromosome: chr16 Starnd: - Coordinate: Start Site(bp): 87830023 End Site(bp): 87869507 External Links: ENSG00000103257

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 AAMP chr2 218264123 218270257 - AC010422.3 chr19 12643831 12648397 - AC018523.2 chr11 14493783 14520344 - ACAP3 chr1 1292390 1309609 - ACTB chr7 5527148 5563784 - ACTN4 chr19 38647649 38731589 + ACTR3 chr2 113890063 113962596 + ADAM8 chr10 133262420 133276868 - ADPRHL2 chr1 36088892 36093932 + AKIRIN1 chr1 38991276 39006059 + AKTIP chr16 53491040 53504411 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-199a-5p chr1 172144592 172144614 - hsa-miR-199b-5p chr9 128244783 128244805 - hsa-miR-130a-3p chr11 57641252 57641273 + hsa-miR-301a-3p chr17 59151149 59151171 - hsa-miR-130b-3p chr22 21653354 21653375 + hsa-miR-625-5p chr14 65471116 65471136 + hsa-miR-6775-3p chr16 87834592 87834612 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC005618.1 chr5 141326210 141329357 + AC012236.1 chr15 31221999 31230838 - AC016876.2 chr17 7581964 7584086 - 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