Overview

Gene Location [1]
22q11.21
Pathways
PI3K/AKT1/MTOR, MAP kinase signaling
Gene
CRKL

CRKL Mutation is present in 0.26% of AACR GENIE cases, with uterine corpus neoplasm, non-small cell lung carcinoma, melanoma, bladder carcinoma, and colorectal adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with CRKL Mutation

Significance of CRKL Mutation in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Glioma +

Endometrial Carcinoma +

Melanoma +

Squamous Cell Lung Carcinoma +

Colorectal Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Neuroblastoma +

Neurofibromatosis Type 1 +

Head And Neck Squamous Cell Carcinoma +

Glioblastoma +

Gastric Adenocarcinoma +

Prostate Carcinoma +

Pancreatic Carcinoma +

Cancer +

Hepatocellular Carcinoma +

Malignant Peripheral Nerve Sheath Tumor +

Multiple Myeloma +

Ovarian Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Mesothelioma +

Renal Cell Carcinoma +

Rhabdoid Tumor +

Rhabdomyosarcoma +

Schwannoma +

Soft Tissue Sarcoma +

Thyroid Gland Carcinoma +

References

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.