WebbThe PHIP gene is expressed at high levels in each of these molecular subtypes, as evidenced by TCGA analyses of these malignancies. PHIP was specifically enriched in … Webb5 dec. 2024 · b Schematic representation of the PHIP gene (NM_017934.6) and the two protein isoforms PHIP/DCAF14 and NDRP. The point mutations are scattered throughout …
Mutation Research/Genetic Toxicology and Environmental …
WebbNine patients with microdeletions spanning the 6q14.1 region including the PHIP gene have been reported with a similar phenotype including developmental delay, intellectual disability,hypotonia,andobesity(Beckeretal.2012;Wentzeletal.2010).However,patients with microdeletions encompassing the PHIP gene have a number of additional clinical find- Webb遺伝子記号 PHIP 生物種 Human (Homo sapiens) 正式名称 pleckstrin homology domain interacting protein 通称 BRWD2; CHUJANS; DCAF14; DIDOD; WDR11; ndrp 他名称 PH-interacting protein; DDB1 and CUL4 associated factor 14; IRS-1 PH domain-binding protein; WD repeat-containing protein 11 遺伝子の種類 protein-coding 要約 crywolf irene
Supplementary file code for article genes12121888 Xinyang
WebbLoss-offunction mutations in the PHIP gene were recently identified as the cause of the neurodevelopmental disorder Chung-Jansen syndrome (Webster et al. 2016; Jansen et al. 2024). WebbGenes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2024), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper. WebbIn clinical specimens, PHIP is upregulated in the bronchioid subtype of LADC without EGFR mutations, KRAS mutations, and ALK fusions. This study demonstrated the possible … cry wolf italic