Overview

Location [1]
1p31.3
Pathway
JAK/STAT signaling
Protein [2]
Tyrosine-protein kinase JAK1
Synonyms [1]
JAK1A, JAK1B, JTK3

Janus kinase 1 (JAK1) is a gene that encodes a protein-tyrosine kinase that functions in the interferon-alpha/beta and gamma signal transduction pathways. Fusions, rearrangements, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

JAK1 is altered in 1.78% of all cancers with endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, prostate adenocarcinoma, and lung adenocarcinoma having the greatest prevalence of alterations [3].

JAK1 GENIE Cases - Top Diseases

The most common alterations in JAK1 are JAK1 Mutation (1.51%), JAK1 K860Nfs*16 (0.21%), JAK1 Amplification (0.13%), JAK1 Loss (0.07%), and JAK1 P430Rfs*2 (0.07%) [3].

JAK1 GENIE Cases - Top Alterations

Significance of JAK1 in Diseases

Acute Lymphoblastic Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Malignant Solid Tumor +

B-Cell Lymphoblastic Leukemia/Lymphoma +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Mixed Phenotype Acute Leukemia +

Secondary Acute Myeloid Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

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. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.