exRNAdisease

Entry Detail

---



General Information

Database ID: exR0081757 RNA Name: SMARCB1 RNA Type: mRNA Chromosome: chr22 Starnd: + Coordinate: Start Site(bp): 23786931 End Site(bp): 23838008 External Links: ENSG00000099956

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 AC005258.1 chr19 2269525 2341172 + AC093525.1 chr16 2513965 2527955 + ACAD8 chr11 134253495 134265855 + ACIN1 chr14 23058564 23095614 - ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ACTN1 chr14 68874143 68979440 - ADCY3 chr2 24819169 24919839 - ADD3 chr10 109996368 110135565 + ADGRL1 chr19 14147743 14206187 - ADSL chr22 40346500 40390463 + AHCY chr20 34280268 34311802 - AKIRIN1 chr1 38991276 39006059 + AL022238.4 chr22 40346529 40410054 + AL121845.3 chr20 63708864 63739103 + AL136454.1 chr1 192716132 192716653 + ALDH16A1 chr19 49453225 49471050 + ALDOA chr16 30064164 30070457 + miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC008403.3 chr19 48547637 48597238 - AC016876.2 chr17 7581964 7584086 - AC019205.1 chr6 73263212 73301789 + AC079781.5 chr7 97851688 97972985 - AC132217.1 chr11 2129121 2129964 - AL035458.2 chr20 34234840 34281173 - 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