exRNAdisease

Entry Detail

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General Information

Database ID: exR0078430 RNA Name: PAICS RNA Type: mRNA Chromosome: chr4 Starnd: + Coordinate: Start Site(bp): 56435741 End Site(bp): 56464579 External Links: ENSG00000128050

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 AAK1 chr2 69457997 69674349 - AAR2 chr20 36236459 36270918 + ABHD18 chr4 127965306 128039927 + AC120057.2 chr17 7240427 7244635 - AC135050.2 chr16 31083439 31094956 - AC245033.1 chr15 82536788 82573194 - ACOT7 chr1 6264269 6394391 - ACSS1 chr20 25006230 25058980 - ACTR8 chr3 53867066 53882152 - ADA2 chr22 17178790 17258235 - ADD1 chr4 2843857 2930076 + ADI1 chr2 3497366 3519531 - AEN chr15 88621337 88632281 + AGO3 chr1 35930718 36072500 + AGPAT3 chr21 43865223 43987592 + AHCYL1 chr1 109984765 110023742 + AIMP2 chr7 6009255 6023834 + AK2 chr1 33007940 33080996 - ALDH9A1 chr1 165662216 165698863 - miRNA targets: NA circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC005726.3 chr17 28573117 28574243 + AC016044.1 chr15 52800168 52805972 - AC020917.2 chr19 16440946 16443584 + AC022140.1 chr5 25404733 25445925 - AC093827.4 chr4 86924630 86936202 - AC105383.1 chr4 133075311 133149147 - 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