Gene Location [1]
Variant Type
Deficient Expression

Significance of SMARCA4 Deficient Expression in Diseases

Malignant Solid Tumor +

Rhabdoid Tumor +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Atypical Teratoid/Rhabdoid Tumor +

Bladder Carcinoma +

Breast Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Epithelioid Sarcoma +

Extrarenal Rhabdoid Tumor +

Hepatoblastoma +

Lymphoma +

Malignant Central Nervous System Neoplasm +

Malignant Ovarian Clear Cell Tumor +

Malignant Ovarian Endometrioid Tumor +

Mixed Phenotype Acute Leukemia +

Retinoblastoma +

Rhabdoid Tumor Of The Kidney +

Sarcomatoid Carcinoma +

Soft Tissue Sarcoma +

Synovial Sarcoma +


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.