Overview

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

Significance of CRKL Mutation in Diseases

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Colorectal Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Glioma +

Head And Neck Squamous Cell Carcinoma +

Hepatocellular Carcinoma +

Low Grade Glioma +

Myelodysplastic Syndromes +

Ovarian Carcinoma +

Renal Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Thyroid Gland Carcinoma +

Acute Myeloid Leukemia +

Aggressive Systemic Mastocytosis +

Astrocytic Tumor +

Cancer +

Chondrosarcoma +

Chronic Myelomonocytic Leukemia +

Classical Hodgkin Lymphoma +

Cutaneous Melanoma +

Desmoid-Type Fibromatosis +

Diffuse Glioma +

Dysembryoplastic Neuroepithelial Tumor +

Embryonal Rhabdomyosarcoma +

Endometrial Carcinoma +

Ewing Sarcoma +

Gangliocytoma +

Ganglioglioma +

Gastric Adenocarcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Liposarcoma +

Low-Grade Neuroepithelial Tumor, NOS +

Malignant Peripheral Nerve Sheath Tumor +

Mast Cell Leukemia +

Multiple Myeloma +

Myeloid Neoplasm +

Neuroblastoma +

Neurofibromatosis Type 1 +

Neuronal And Mixed Neuronal-Glial Tumors +

Osteosarcoma +

Pecoma +

Pancreatic Carcinoma +

Peritoneal Mesothelioma +

Pilocytic Astrocytoma +

Pilomyxoid Astrocytoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Prostate Carcinoma +

Rhabdoid Tumor +

Schwannoma +

Small Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Urothelial Carcinoma +

References

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.