exRNAdisease

Entry Detail

---



General Information

Database ID: exR0081156 RNA Name: SFPQ RNA Type: mRNA Chromosome: chr1 Starnd: - Coordinate: Start Site(bp): 35176378 End Site(bp): 35193145 External Links: ENSG00000116560

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 AAAS chr12 53307456 53324864 - ABLIM1 chr10 114431113 114768061 - AC008982.1 chr19 38817471 38840178 - AC010422.3 chr19 12643831 12648397 - AC091551.1 chr18 50968019 51058144 + AC105052.3 chr7 102637049 102671641 - AC118553.2 chr1 99970011 100083321 + ACSS1 chr20 25006230 25058980 - ACTR2 chr2 65227753 65271253 + ADAMTSL4 chr1 150549369 150560937 + ADGRA3 chr4 22345071 22516066 - ADORA2A chr22 24417879 24442357 + AGO4 chr1 35808016 35857890 + AHCY chr20 34280268 34311802 - AKR1A1 chr1 45550543 45570049 + AL117339.5 chr10 38094368 38360098 + AL136295.5 chr14 24147548 24166452 + AL365205.1 chr6 41780349 41790141 + ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-205-5p chr1 209432166 209432187 + hsa-miR-3652 chr12 103930425 103930442 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC006504.5 chr19 27793431 27984984 + AC067930.1 chr8 143579636 143580670 + AD000090.1 chr19 35557956 35581954 + AL022311.1 chr22 37876148 37895563 + 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