Associated Genetic Biomarkers
Associated Diseases


Gene Location [1]

H3F3A Mutation is present in 0.49% of AACR GENIE cases, with diffuse intrinsic pontine glioma, conventional glioblastoma multiforme, colon adenocarcinoma, glioblastoma, and high-grade glioma, NOS having the greatest prevalence [4].

Top Disease Cases with H3F3A Mutation

Significance of H3F3A Mutation in Diseases

Diffuse Midline Glioma, H3 K27M-Mutant +

Glioma +

Medulloblastoma +

Central Nervous System Embryonal Neoplasm +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Meningioma +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Sarcoma +

Choroid Plexus Neoplasm +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Gliomatosis Cerebri +

Gliosarcoma +

Pineal Region Neoplasm +

Pineoblastoma +

Pineocytoma +

Pleomorphic Xanthoastrocytoma +

Primitive Neuroectodermal Tumor +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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