Overview

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

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 2.23% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, melanoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

IKZF1 GENIE Cases - Top Diseases

The most common alterations in IKZF1 are IKZF1 Mutation (1.80%), IKZF1 Amplification (0.25%), IKZF1 Loss (0.17%), IKZF1 Nonsense (0.13%), and IKZF1 E304K (0.04%) [3].

IKZF1 GENIE Cases - Top Alterations

Significance of IKZF1 in Diseases

Anaplastic Large Cell Lymphoma +

Follicular Lymphoma +

Acute Myeloid Leukemia +

Multiple Myeloma +

Myelodysplastic Syndromes +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Acute Lymphoblastic Leukemia +

Burkitt Lymphoma +

Chronic Myeloid Leukemia +

Lymphoplasmacytic Lymphoma +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Hodgkin Lymphoma +

Myeloproliferative Neoplasm +

B-Cell Acute Lymphoblastic Leukemia +

Lymphoblastic Lymphoma +

Myelofibrosis +

Plasma Cell Leukemia +

Prolymphocytic Leukemia +

Non-Hodgkin Lymphoma +

Acute Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

T-Cell And NK-Cell Neoplasm +

Myelodysplastic Syndrome With Excess Blasts-2 +

Acute Biphenotypic Leukemia +

Acute Undifferentiated Leukemia +

B-Cell Prolymphocytic Leukemia +

Myelodysplastic Syndrome With Excess Blasts-1 +

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 8. 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.