Overview

Location [1]
4q21.3-q22.1
Protein [2]
AF4/FMR2 family member 1
Synonyms [1]
MLLT2, AF4, PBM1

AF4/FMR2 family, member 1 (AFF1) is a gene that encodes a protein that functions in sequences-specific DNA binding transcription factor activity. Fusions, missense mutations and silent mutations are observed in cancers such as breast cancer and intestinal cancer.

Significance of AFF1 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Myelofibrosis +

Non-Hodgkin Lymphoma +

Multiple Myeloma +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Primary Myelofibrosis +

Chronic Myelomonocytic Leukemia +

Burkitt Lymphoma +

Myeloproliferative Neoplasm +

Acute Leukemia +

Anaplastic Large Cell Lymphoma +

Mantle Cell Lymphoma +

Myelofibrosis Transformation In Essential Thrombocythemia +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Follicular Lymphoma +

Juvenile Myelomonocytic Leukemia +

Marginal Zone Lymphoma +

Lymphoma +

Prolymphocytic Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Secondary Myelofibrosis +

Small Lymphocytic Lymphoma +

Acute Undifferentiated Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Diffuse Large B-Cell Lymphoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Refractory Anemia With Excess Blasts +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

B-Cell Acute Lymphoblastic Leukemia +

Double-Hit Lymphoma +

Plasma Cell Leukemia +

Secondary Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Myelodysplastic Syndrome +

Adult T-Cell Leukemia/Lymphoma +

Burkitt Leukemia +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Mediastinal Large B-Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Refractory Anemia +

Therapy-Related Acute Myeloid Leukemia +

Acute Erythroid Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Megakaryoblastic Leukemia +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Aplastic Anemia +

Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative +

B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma +

B-Cell Prolymphocytic Leukemia +

Desmoplastic Small Round Cell Tumor +

Diffuse Large B-Cell Lymphoma Activated B-Cell Type +

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified +

EBV-Positive Mucocutaneous Ulcer +

Ewing Sarcoma +

Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma +

Hematopoietic And Lymphoid Malignancy +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Intravascular Large B-Cell Lymphoma +

Large B-Cell Lymphoma With IRF4 Rearrangement +

Leukemia +

Lymphomatoid Granulomatosis +

Malignant Solid Tumor +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Myeloid Sarcoma +

Neuroblastoma +

Peripheral T-Cell Lymphoma +

Plasma Cell Neoplasm +

Plasmablastic Lymphoma +

Polycythemia Vera +

Primary Central Nervous System Lymphoma +

Primary Effusion Lymphoma +

Refractory Anemia With Excess Blasts-1 +

Rhabdomyosarcoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Non-Hodgkin Lymphoma +

T-Cell Prolymphocytic Leukemia +

T-Cell And NK-Cell Neoplasm +

T-Cell/Histiocyte-Rich Large B-Cell Lymphoma +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myeloid Neoplasm +

Waldenstrom Macroglobulinemia +

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.