exRNAdisease

Entry Detail

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General Information

Database ID: exR0077025 RNA Name: MRFAP1 RNA Type: mRNA Chromosome: chr4 Starnd: + Coordinate: Start Site(bp): 6640091 End Site(bp): 6642745 External Links: ENSG00000179010

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 AASS chr7 122073549 122144255 - ABCC1 chr16 15949577 16143074 + ABCD4 chr14 74285269 74303055 - AC009133.6 chr16 29812261 29820092 + AC023055.1 chr12 55757275 55827546 - AC118553.2 chr1 99970011 100083321 + AC245033.1 chr15 82536788 82573194 - ACSL3 chr2 222860942 222944639 + ACTB chr7 5527148 5563784 - ACTG1 chr17 81509971 81523847 - ADGRL2 chr1 81306160 81992436 + AFDN chr6 167826922 167972023 + AK8 chr9 132725578 132878777 - AKIRIN1 chr1 38991276 39006059 + ALDH18A1 chr10 95605941 95656711 - miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-155-5p chr21 25573983 25574006 + hsa-miR-330-3p chr19 45639009 45639031 - hsa-miR-708-5p chr11 79402077 79402099 - circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC004540.1 chr7 26398593 26497595 + AC010542.4 chr16 66549280 66551189 + AC079781.5 chr7 97851688 97972985 - AC093827.4 chr4 86924630 86936202 - AC097478.1 chr4 89743792 89744305 + AC106864.1 chr4 112693047 112706810 - AC126365.1 chr17 20788071 20789584 + 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