exRNAdisease

Entry Detail

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General Information

Database ID: exR0080839 RNA Name: SAMD4B RNA Type: mRNA Chromosome: chr19 Starnd: + Coordinate: Start Site(bp): 39342396 End Site(bp): 39385710 External Links: ENSG00000179134

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 ABT1 chr6 26596953 26600739 + AC008878.3 chr19 7382834 7470241 + AC010422.3 chr19 12643831 12648397 - ACOT7 chr1 6264269 6394391 - ACOT8 chr20 45841721 45857405 - ACTG1 chr17 81509971 81523847 - ACTN4 chr19 38647649 38731589 + ADNP2 chr18 80109262 80147523 + AGO1 chr1 35869808 35930532 + AHCY chr20 34280268 34311802 - AHSA1 chr14 77457870 77469472 + ALDOA chr16 30064164 30070457 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-185-5p chr22 20033153 20033174 + hsa-miR-299-3p chr14 101023832 101023853 + hsa-miR-491-5p chr9 20716120 20716141 + hsa-miR-650 chr22 22822791 22822811 + hsa-miR-671-5p chr7 151238449 151238471 + hsa-miR-423-5p chr17 30117095 30117117 + hsa-miR-1224-5p chr3 184241405 184241423 + hsa-miR-1321 chrX 85835832 85835849 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC002116.1 chr19 36008638 36014235 - AC239868.1 chr1 149861271 149862504 + 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