Overview

Location [1]
7p12.2
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
DNA-binding protein Ikaros
Synonyms [1]
LYF1, IK1, PPP1R92, PRO0758, ZNFN1A1, Hs.54452, IKAROS, CVID13, LyF-1

IKAROS family zinc finger 1 (Ikaros) (IKZF1) is a gene that encodes a transcription factor protein that functions in chromatin remodeling and the regulation of lymphocyte differentiation. Fusions, missense mutations, nonsense mutations, silent mutations, whole gene deletions, and frameshift deletions and insertions are observed in cancers such as hematopoietic and lymphoid cancers, lung cancer, and skin cancer.

IKZF1 is altered in 1.96% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, and melanoma having the greatest prevalence of alterations [3].

IKZF1 GENIE Cases - Top Diseases

The most common alterations in IKZF1 are IKZF1 Mutation (2.01%), IKZF1 Amplification (0.22%), IKZF1 Loss (0.13%), IKZF1 Nonsense (0.12%), and IKZF1 Frameshift (0.06%) [3].

IKZF1 GENIE Cases - Top Alterations

Significance of IKZF1 in Diseases

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Anaplastic Large Cell Lymphoma +

Burkitt Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Chronic Myeloid Leukemia +

Follicular Lymphoma +

Lymphoplasmacytic Lymphoma +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Multiple Myeloma +

B-Cell Acute Lymphoblastic Leukemia +

Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Myelofibrosis +

Myeloproliferative Neoplasm +

Plasma Cell Leukemia +

Prolymphocytic Leukemia +

Acute Leukemia +

Non-Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Acute Undifferentiated Leukemia +

B-Cell Prolymphocytic Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Refractory Anemia With Excess Blasts-1 +

Refractory Anemia With Excess Blasts-2 +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Myelodysplastic Syndrome +

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.