NPM1
Primary Author(s)*
Dr Kay Weng Choy MBBS, BMedSci, FAACB, Monash Health
Synonyms
Nucleophosmin 1, Nucleolar Phosphoprotein B23, Nucleolar Protein NO38, Numatri
Genomic Location
Cytoband: 5q35.1
Genomic Coordinates:
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chr5:170,814,120-170,838,141 (GRCh37/hg19)
chr5:171,387,116-171,411,137 (GRCh38/hg38)
Cancer Category/Type
Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms
Acute Myeloid Leukemia (AML) with Mutated NPM1
Gene Overview
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Common Alteration Types
Put your text here and/or fill in the table with an X where applicable
| Copy Number Loss | Copy Number Gain | LOH | Loss-of-Function Mutation | Gain-of-Function Mutation | Translocation/Fusion |
|---|---|---|---|---|---|
| EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X |
Internal Pages
Acute Myeloid Leukemia (AML) with Mutated NPM1
External Links
NPM1 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
NPM1 by COSMIC - sequence information, expression, catalogue of mutations
NPM1 by CIViC - general knowledge and evidence-based variant specific information
NPM1 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
NPM1 by Cancer Genetics Web - gene, pathway, publication information matched to cancer type
NPM1 by OncoKB - mutational landscape, mutation effect, variant classification
NPM1 by My Cancer Genome - brief gene overview
NPM1 by UniProt - protein and molecular structure and function
NPM1 by Pfam - gene and protein structure and function information
NPM1 by GeneCards - general gene information and summaries
References
EXAMPLE Book
- Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
EXAMPLE Journal Article
- Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.
Notes
*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.