exRNAdisease

Entry Detail

---



General Information

Database ID: exR0080123 RNA Name: RBFOX2 RNA Type: mRNA Chromosome: chr22 Starnd: - Coordinate: Start Site(bp): 35738736 End Site(bp): 36028824 External Links: ENSG00000100320

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 AAGAB chr15 67200667 67255195 - AASDH chr4 56338287 56387508 - ABCF1 chr6 30571393 30597179 + ACP1 chr2 264140 278283 + ACSF3 chr16 89088375 89164121 + ADGRL3 chr4 61201258 62078335 + AIMP2 chr7 6009255 6023834 + ALAS1 chr3 52198086 52214327 + ALDH1A3 chr15 100877714 100916626 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-25-3p chr7 100093571 100093592 - hsa-miR-92a-3p chrX 134169544 134169565 - hsa-miR-183-5p chr7 129774967 129774988 - hsa-miR-185-5p chr22 20033153 20033174 + hsa-miR-367-3p chr4 112647877 112647898 - hsa-miR-325 chrX 77005464 77005486 - hsa-miR-491-5p chr9 20716120 20716141 + hsa-miR-92b-3p chr1 155195237 155195258 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC005618.1 chr5 141326210 141329357 + AC007952.4 chr17 19112000 19112636 - AC020928.1 chr19 36773112 36777078 + AC040934.1 chr17 47409322 47423526 - AC084125.2 chr8 144495458 144505444 - 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