Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE Recurrent mutations such as H3K27M mutation in H3F3A and HIST1H3B genes encoding histone H3 and its variants were identified in approximately 30% of pediatric glioblastomas. 29063957 2018
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions. 30203362 2018
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE A recurrent glycine-to-arginine/valine alteration at codon 34 (G34R/V) within H3F3A, a gene that encodes the replication-independent histone variant H3.3, reportedly occurs exclusively in pediatric glioblastomas. 28447171 2017
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE These results demonstrate that we have developed a new reliable procedure for detecting the H3F3A K27M mutation in pediatric glioblastoma patient samples. 26376656 2016
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE Histone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas and diffuse intrinsic pontine gliomas. 27392443 2016
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE Pediatric GBMs have a distinctive molecular pathogenesis, as H3F3A and DAXX mutations are frequent, and their gene expression profile is different than adult GBMs. 24445767 2015
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE 13/160 (8 %) exhibited a distinct methylation profile that was most similar to GBM-H3-K27, however, lacked the H3F3A mutation. 26087904 2015
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE In addition, recent findings in pediatric GBMs regarding mutations in the histone H3F3A gene suggest that these tumors may represent a 3rd major category of GBM, separate from adult primary (IDH1/2 wt), and secondary (IDH1/2 mut) GBMs. 25943888 2015
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 PosttranslationalModification disease BEFREE In contrast, thalamic gliomas with wild-type H3F3A had DNA methylation profiles similar to those of hemispheric glioblastomas. 24285547 2014
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE These results suggest that immunohistochemical detection of H3.3 K27M is a sensitive and specific surrogate for the H3F3A K27M mutation and defines a prognostically poor subset of pediatric GBM. 25200322 2014
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE Presence of distinct clusters and an H3F3A mutation-specific methylome indicate existence of epigenetic subgroups within pediatric GBM. 24997139 2014
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 Biomarker disease BEFREE Examples are mutations in the gene encoding chromatin remodeling factor SMARCB1 in rhabdoid tumors or mutations in one of the three histone H3.3-encoding genes, H3F3A, in pediatric glioblastomas. 23900077 2013
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1). 23907119 2013
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE Recurrent mutations in H3F3A at K27 and G34 are frequent in pediatric glioblastoma, but it is unclear how these mutations promote tumorigenesis. 23658294 2013
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE Exon sequencing has identified a mutation in K27M of the histone H3.3 gene (H3F3A K27M and G34R/V) in about 20% of pediatric glioblastomas, but it remains to be seen whether these mutations can be considered specific for pediatric diffuse high-grade astrocytomas or also occur in other pediatric brain tumors. 23429371 2013
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 Biomarker disease BEFREE Prevalences of mutations of isocitrate dehydrogenase 1 (IDH1) and histone H3.3 (H3F3A), the glioma cytosine-phosphate-guanine island methylator phenotype (G-CIMP), and methylation of alkylpurine DNA N-glycosylase (APNG) and peroxiredoxin 1 (PRDX1) promoters were determined in a representative biomarker subset (n = 126 patients with anaplastic astrocytoma or glioblastoma) from the NOA-08 trial. 23595628 2013
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 Biomarker disease CTD_human Notably, we identified the same FGFR1 mutations in a subset of H3F3A-mutated pediatric glioblastoma with additional alterations in the NF1 gene. 23817572 2013
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE Sequencing of GBMs showed H3F3A K27M mutations in all six cases with lowered/absent H3K27me3. 23414300 2013
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE Notably, we identified the same FGFR1 mutations in a subset of H3F3A-mutated pediatric glioblastoma with additional alterations in the NF1 gene. 23817572 2013
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE We also demonstrate that the two H3F3A mutations give rise to GBMs in separate anatomic compartments, with differential regulation of transcription factors OLIG1, OLIG2, and FOXG1, possibly reflecting different cellular origins. 23079654 2012
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 Biomarker disease CTD_human Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. 22286216 2012
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.500 GeneticVariation disease BEFREE We recently identified frequent alterations in chromatin remodelling pathways including recurrent mutations in H3F3A and mutations in ATRX (α-thalassemia/mental-retardation-syndrome-X-linked) in pediatric and young adult glioblastoma (GBM, WHO grade IV astrocytoma). 22886134 2012