exRNAdisease

Entry Detail

---



General Information

Database ID: exR0081262 RNA Name: SHMT2 RNA Type: mRNA Chromosome: chr12 Starnd: + Coordinate: Start Site(bp): 57229573 End Site(bp): 57234935 External Links: ENSG00000182199

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 AATF chr17 36948954 37056871 + ABCG2 chr4 88090150 88231628 - AC004922.1 chr7 99325879 99394653 + AC010132.3 chr7 42909273 42932174 - AC010422.3 chr19 12643831 12648397 - AC138811.2 chr16 18788063 18801519 - ACAT1 chr11 108116695 108147603 + ACER3 chr11 76860867 77026797 + ACTG1 chr17 81509971 81523847 - ACTN4 chr19 38647649 38731589 + ACTR2 chr2 65227753 65271253 + ADRM1 chr20 62302093 62308862 + AGRN chr1 1020120 1056118 + AKAP12 chr6 151239967 151358559 + AKNA chr9 114334156 114394405 - AL121594.1 chr14 35122549 35317474 + AL136454.1 chr1 192716132 192716653 + miRNA targets: miRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand hsa-miR-4426 chr1 192716333 192716349 + circRNA targets: NA lncRNA targets: lncRNA Symbol Chromosome Start Site(bp) End Site(bp) Strand AC016876.2 chr17 7581964 7584086 - AC091564.7 chr11 6610883 6616594 - AC106864.1 chr4 112693047 112706810 - AC132217.1 chr11 2129121 2129964 - AC133644.3 chr2 87455476 87767359 + AC137834.2 chr12 57229498 57230198 - AC139149.1 chr17 81514047 81527776 + AL136985.3 chr1 58715609 58771295 + 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