exRNAdisease

Entry Detail

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General Information

Database ID: exR0076726 RNA Name: MEF2D RNA Type: mRNA Chromosome: chr1 Starnd: - Coordinate: Start Site(bp): 156463727 End Site(bp): 156500779 External Links: ENSG00000116604

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 ABCD3 chr1 94418389 94518666 + AC010422.3 chr19 12643831 12648397 - AC040162.1 chr16 67929614 67936017 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-19a-3p chr13 91350939 91350961 + hsa-miR-19b-3p chr13 91351245 91351267 + hsa-miR-100-5p chr11 122152275 122152296 - hsa-miR-105-5p chrX 152394458 152394480 - hsa-miR-185-5p chr22 20033153 20033174 + hsa-miR-99b-5p chr19 51692618 51692639 + hsa-miR-491-5p chr9 20716120 20716141 + hsa-miR-519c-5p chr19 53686484 53686505 + hsa-miR-526a-5p chr19 53726928 53726949 + hsa-miR-654-5p chr14 101040234 101040255 + hsa-miR-660-5p chrX 50013256 50013277 + hsa-miR-574-5p chr4 38868056 38868078 + hsa-miR-541-3p chr14 101064548 101064569 + hsa-miR-760 chr1 93846880 93846899 + hsa-miR-519b-5p chr19 53695225 53695246 + hsa-miR-520c-5p chr19 53707468 53707489 + hsa-miR-518d-5p chr19 53734892 53734913 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AD000090.1 chr19 35557956 35581954 + 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