exRNAdisease

Entry Detail

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General Information

Database ID: exR0081018 RNA Name: SEC61A1 RNA Type: mRNA Chromosome: chr3 Starnd: + Coordinate: Start Site(bp): 128051641 End Site(bp): 128071683 External Links: ENSG00000058262

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 AC006064.6 chr12 6556886 6607367 - AC023055.1 chr12 55757275 55827546 - AC093525.2 chr16 2496032 2520218 + ACIN1 chr14 23058564 23095614 - ACTB chr7 5527148 5563784 - ACTR3 chr2 113890063 113962596 + ADH5 chr4 99070978 99088801 - ADRM1 chr20 62302093 62308862 + AL139011.2 chr1 160216800 160285130 - ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-16-5p chr3 160404754 160404775 + hsa-miR-103a-3p chr5 168560904 168560926 - hsa-miR-107 chr10 89592756 89592778 - hsa-miR-34a-5p chr1 9151735 9151756 - hsa-miR-214-3p chr1 172138816 172138837 - hsa-miR-34c-5p chr11 111513451 111513473 + hsa-miR-449b-5p chr5 55170706 55170727 - hsa-miR-589-5p chr7 5495873 5495894 - hsa-miR-3136-3p chr3 69048966 69048987 - 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 - AC020928.2 chr19 36773712 36775908 - AC023908.2 chr15 39770559 39801333 - AL049796.1 chr1 93847174 93848939 + 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