Overview

Location [1]
9q34.13
Protein [2]
Nuclear pore complex protein Nup214
Synonyms [1]
CAIN, CAN, IIAE9

Nucleoporin 214kDa (NUP214) is a gene that encodes a protein that functions as a component of the nuclear pore complex in eukaryotic cells. The protein is necessary for proper cell cycle progression and nucleocytoplasmic transport. Fusions, missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

NUP214 is altered in 0.22% of all cancers with pancreatic adenocarcinoma, endometrial endometrioid adenocarcinoma, high grade ovarian serous adenocarcinoma, melanoma, and thyroid gland papillary carcinoma having the greatest prevalence of alterations [3].

NUP214 GENIE Cases - Top Diseases

The most common alterations in NUP214 are NUP214-BRAF Fusion (0.14%), NUP214 I310V (0.66%), NUP214 A1489T (0.25%), NUP214 K1382T (0.45%), and NUP214-ABL1 Fusion (0.01%) [3].

NUP214 GENIE Cases - Top Alterations

Significance of NUP214 in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Chronic Myelomonocytic Leukemia +

Multiple Myeloma +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Mantle Cell Lymphoma +

Burkitt Lymphoma +

Acute Leukemia +

Anaplastic Large Cell Lymphoma +

Juvenile Myelomonocytic Leukemia +

Myeloproliferative Neoplasm +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Myelofibrosis +

Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Secondary Acute Myeloid Leukemia +

Small Lymphocytic Lymphoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Double-Hit Lymphoma +

Prolymphocytic Leukemia +

Refractory Anemia With Excess Blasts +

B-Cell Non-Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Mixed Phenotype Acute Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related 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 +

Myelodysplastic Syndrome With Excess Blasts-2 +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Plasma Cell Leukemia +

Refractory Anemia +

Malignant Solid Tumor +

Acute Bilineal Leukemia +

Acute Erythroid Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Aplastic Anemia +

B-Cell Prolymphocytic Leukemia +

Desmoplastic Small Round Cell Tumor +

Ewing Sarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Leukemia +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Neuroblastoma +

Plasma Cell Neoplasm +

Polycythemia Vera +

Primary Myelofibrosis +

Rhabdomyosarcoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Non-Hodgkin Lymphoma +

T-Cell Prolymphocytic 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 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.