Overview

Location [1]
1q42.12
Synonyms [1]
H3.3A, H3F3

H3 histone, family 3A (H3F3A) is a gene that encodes a histone, the nuclear proteins responsible for the nucleosome structure of the chromosomal fiber. Missense mutations are observed in cancers such as bone cancer, central nervous system cancers, and endometrial cancer.

H3F3A is altered in 0.71% of all cancers with breast invasive ductal carcinoma, diffuse intrinsic pontine glioma, conventional glioblastoma multiforme, colon adenocarcinoma, and glioblastoma having the greatest prevalence of alterations [3].

H3F3A GENIE Cases - Top Diseases

The most common alterations in H3F3A are H3F3A Mutation (0.49%), H3F3A K28M (0.21%), H3F3A Amplification (0.25%), H3F3A G35R (0.04%), and H3F3A G35W (0.02%) [3].

H3F3A GENIE Cases - Top Alterations

Significance of H3F3A in Diseases

Diffuse Intrinsic Pontine Glioma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Anaplastic Astrocytoma +

Glioblastoma +

Malignant Glioma +

High-Grade Glioma, NOS +

Diffuse Glioma +

Glioma +

Anaplastic Ependymoma +

Malignant Central Nervous System Neoplasm +

Medulloblastoma +

Central Nervous System Embryonal Neoplasm +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Oligoastrocytoma +

Anaplastic Oligodendroglioma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Fibrillary Astrocytoma +

Gliomatosis Cerebri +

Gliosarcoma +

Malignant Central Nervous System Germ Cell Tumor +

Medulloblastoma, Non-WNT/Non-SHH +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.