exRNAdisease

Entry Detail

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General Information

Database ID: exR0078745 RNA Name: PEBP1 RNA Type: mRNA Chromosome: chr12 Starnd: + Coordinate: Start Site(bp): 118136124 End Site(bp): 118145584 External Links: ENSG00000089220

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 ABRACL chr6 139028745 139043302 + AC005258.1 chr19 2269525 2341172 + AC008982.1 chr19 38817471 38840178 - AC010422.3 chr19 12643831 12648397 - AC091167.2 chr15 90249556 90272208 + AC092143.1 chr16 89919165 89936092 + AC139530.2 chr17 81703371 81720539 + AC245033.1 chr15 82536788 82573194 - ACAD9 chr3 128879596 128916067 + ACTB chr7 5527148 5563784 - ADAM10 chr15 58588809 58749791 - ADGRG2 chrX 18989307 19122637 - ADNP2 chr18 80109262 80147523 + ADSL chr22 40346500 40390463 + AEN chr15 88621337 88632281 + AKAP8L chr19 15380050 15419141 - AKR1B1 chr7 134442356 134459284 - AL133352.1 chr10 100505628 100529881 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-302d-3p chr4 112648006 112648028 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC023509.1 chr12 53441741 53467528 + AC040162.3 chr16 67882461 67886367 + AC068473.5 chr18 79677287 79679358 - AC091564.7 chr11 6610883 6616594 - AC132217.1 chr11 2129121 2129964 - AC245033.4 chr15 82533175 82540008 - 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