exRNAdisease

Entry Detail

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General Information

Database ID: exR0082468 RNA Name: SYAP1 RNA Type: mRNA Chromosome: chrX Starnd: + Coordinate: Start Site(bp): 16719612 End Site(bp): 16765340 External Links: ENSG00000169895

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 ACER3 chr11 76860867 77026797 + ACSF3 chr16 89088375 89164121 + ACTB chr7 5527148 5563784 - ADCY1 chr7 45574140 45723116 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-302a-3p chr4 112648186 112648208 - hsa-miR-302b-3p chr4 112648489 112648511 - hsa-miR-302c-3p chr4 112648366 112648388 - hsa-miR-302d-3p chr4 112648006 112648028 - hsa-miR-373-3p chr19 53788748 53788770 + hsa-miR-520e-3p chr19 53675764 53675784 + hsa-miR-519c-3p chr19 53686522 53686543 + hsa-miR-520a-3p chr19 53690933 53690954 + hsa-miR-519b-3p chr19 53695263 53695284 + hsa-miR-520b-3p chr19 53701267 53701287 + hsa-miR-520c-3p chr19 53707506 53707527 + hsa-miR-520d-3p chr19 53720149 53720170 + hsa-miR-519a-3p chr19 53762397 53762418 + hsa-miR-488-3p chr1 177029374 177029394 - hsa-miR-302e chr11 7234771 7234787 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC007952.4 chr17 19112000 19112636 - AC012186.2 chr16 46660696 46661591 - AC104971.3 chr18 58659858 58660524 + 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