Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.400 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
0.400 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
0.400 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
0.400 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
0.400 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
0.400 GeneticVariation disease BEFREE Mutations in H3F3A, which encodes histone H3.3, commonly occur in pediatric glioblastoma. 24285547 2014
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.400 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
0.400 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
0.400 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
0.400 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
0.400 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
0.400 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
0.400 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
0.400 GeneticVariation disease BEFREE Screening of a large cohort of gliomas of various grades and histologies (n = 784) showed H3F3A mutations to be specific to GBM and highly prevalent in children and young adults. 22286061 2012
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
0.400 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
0.400 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