Gene Location [1]
Cell cycle control
Variant Type

Significance of RB1 Expression in Diseases

Malignant Glioma +

Breast Carcinoma +

Malignant Solid Tumor +

Diffuse Intrinsic Pontine Glioma +

Fallopian Tube Carcinoma +

Glioma +

Hepatocellular Carcinoma +

Leiomyosarcoma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Prostate Carcinoma +

Soft Tissue Sarcoma +

Anaplastic Astrocytoma +

Angiosarcoma +

Atypical Teratoid/Rhabdoid Tumor +

Bladder Carcinoma +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Neoplasm +

Chondrosarcoma +

Chordoma +

Colorectal Carcinoma +

Dedifferentiated Chondrosarcoma +

Dedifferentiated Liposarcoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Ductal Carcinoma In Situ +

Endometrial Carcinoma +

Ependymoma +

Epithelioid Sarcoma +

Esophageal Carcinoma +

Fibrosarcoma +

Gastric Carcinoma +

Germ Cell Tumor +

Glioblastoma +

Histiocytic And Dendritic Cell Neoplasm +

Invasive Breast Carcinoma +

Liposarcoma +

Malignant Peripheral Nerve Sheath Tumor +

Medulloblastoma +

Melanoma +

Meningioma +

Multiple Myeloma +

Myxofibrosarcoma +

Osteosarcoma +

Pleomorphic Rhabdomyosarcoma +

Spinal Cord Neoplasm +

Synovial Sarcoma +

Undifferentiated (Embryonal) Sarcoma +

Undifferentiated Pleomorphic Sarcoma +

Urothelial Carcinoma +

WHO Grade III Glioma +


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. 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.