Overview

Location [1]
19p13.11
Protein [2]
RNA polymerase II elongation factor ELL
Synonyms [1]
C19orf17, PPP1R68, ELL1, MEN

Elongation factor RNA polymerase II (ELL) is a gene that encodes a protein that functions as an elongation component of the super elongation complex (SEC). The protein regulates the small nuclear RNA (snRNA) gene transcription. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

Significance of ELL in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Myelofibrosis +

Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia +

Multiple Myeloma +

Acute Biphenotypic Leukemia +

Primary Myelofibrosis +

Chronic Myelomonocytic Leukemia +

Burkitt Lymphoma +

Myeloproliferative Neoplasm +

Anaplastic Large Cell Lymphoma +

Juvenile Myelomonocytic Leukemia +

Mantle Cell Lymphoma +

Myelofibrosis Transformation In Essential Thrombocythemia +

Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase +

Acute Leukemia +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Secondary Myelofibrosis +

Small Lymphocytic Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Prolymphocytic Leukemia +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Refractory Anemia With Excess Blasts +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Undifferentiated Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

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 +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Plasma Cell Leukemia +

Secondary Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Acute Erythroid Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Megakaryoblastic Leukemia +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

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 +

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 +

Refractory Anemia With Excess Blasts-2 +

Rhabdomyosarcoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Non-Hodgkin Lymphoma +

T-Cell Prolymphocytic Leukemia +

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

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

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.