Gene Location [1]
Cell cycle control
Variant Type

Significance of RB1 Overexpression in Diseases

Glioma +

Malignant Solid Tumor +

Breast Carcinoma +

Fallopian Tube Carcinoma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Anaplastic Astrocytoma +

Angiosarcoma +

Bladder Carcinoma +

Central Nervous System Neoplasm +

Chordoma +

Colorectal Carcinoma +

Diffuse Astrocytoma +

Diffuse Intrinsic Pontine Glioma +

Ductal Carcinoma In Situ +

Endometrial Carcinoma +

Epithelioid Sarcoma +

Esophageal Carcinoma +

Fibrosarcoma +

Gastric Carcinoma +

Germ Cell Tumor +

Glioblastoma +

Histiocytic And Dendritic Cell Neoplasm +

Leiomyosarcoma +

Liposarcoma +

Lymphoma +

Malignant Glioma +

Malignant Peripheral Nerve Sheath Tumor +

Melanoma +

Meningioma +

Multiple Myeloma +

Myxofibrosarcoma +

Pleomorphic Rhabdomyosarcoma +

Soft Tissue Sarcoma +

Synovial Sarcoma +

Undifferentiated Pleomorphic Sarcoma +

Undifferentiated Sarcoma +

Urothelial Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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. 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 4. 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.