WebHUWE1 has 5,747 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 85 datasets. WebHUWE1_ENST00000612484 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, ... HUWE1_ENST00000612484 - Explore an overview of HUWE1_ENST00000612484, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data. …
HUWE1 - Wikipedia
Web26 nov. 2013 · Deletion of HUWE1 in the human population has never been reported. The HECT, UBA and WWE domain containing 1 ( HUWE1) gene encodes a ~500 kDa E3 ubiquitin ligase that targets its substrates for proteasomal … Web22 mrt. 2024 · Green HUWE1 in Rare syndromic craniosynostosis or isolated multisuture synostosis. Level 3: Craniosynostosis syndromes. Level 2: Skeletal disorders. Version … dynamic ghee
Gene - HUWE1
WebPrevious sequencing studies have identified somatic mutations throughout the HUWE1 gene in up to 15% of colorectal tumours (Wood et al, 2007; Seshagiri et al, 2012; TCGA, 2012; Fig EV1A). HUWE1 is a large gene (~15,000-bp cDNA), and thus, its frequent mutation could simply be a product of mutational “noise”. Huwe1 WebSingle nucleotide variants (SNVs) are the most common type of variant known to cause HUWE1-related XLID (Human Gene Mutation Database), therefore analytical sensitivity … Web20 nov. 2015 · The hypothesis that HUWE1 gene might be implicate in the pathogenesis of intellectual disability is supported, although further investigations and a more detailed examination of patients' clinical history are needed to clear up other eventual genotype–phenotype correlations. Abstract Xp11.22 microduplications have been … dynamic ghoulification cure