Difference between revisions of "DDX41"
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==Primary Author(s)*== | ==Primary Author(s)*== | ||
| − | + | Ying Zou, MD, Ph.D. FACMG, The Johns Hopkins University | |
__TOC__ | __TOC__ | ||
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==Synonyms== | ==Synonyms== | ||
| − | + | * DEAD-Box Helicase 41 | |
| + | * ABS | ||
| + | * DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 41 | ||
| + | * Probable ATP-Dependent RNA Helicase DDX41 | ||
| + | * DEAD Box Protein Abstrakt Homolog | ||
| + | * DEAD Box Protein 41 | ||
| − | + | * DEAD-Box Protein Abstrakt | |
| + | * Putative RNA Helicase | ||
| + | * EC 3.6.4.13 | ||
| + | * EC 3.6.1 | ||
| + | * MGC8828 | ||
| + | * MPLPF | ||
==Genomic Location== | ==Genomic Location== | ||
| − | '''Cytoband:''' | + | '''Cytoband:''' 5q35.3 |
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| + | '''Genomic Coordinates:''' chr5:177,511,576-177,516,960 [hg38] | ||
==Cancer Category/Type== | ==Cancer Category/Type== | ||
| − | * | + | * Myeloproliferative Neoplasms |
| + | * Lymphoproliferative Neoplasms | ||
| + | * Familial and Leukemia, Acute Myeloid | ||
| − | + | ==Gene Overview== | |
| − | + | DDX41 (DEAD-Box Helicase 41) gene encodes an RNA helicase, which includes nucleic acid binding and helicase activity. Evidence suggests that it has a function in hematopoiesis and acts as a tumor suppressor gene <ref>Irion, U., Leptin, M. Developmental and cell biological functions of the Drosophila DEAD-box protein Abstrakt. Curr. Biol. 9: 1373-1381, 1999.</ref><ref>Zhang Z, Yuan B, Bao M, Lu N, Kim T, Liu YJ. The helicase DDX41 senses intracellular DNA mediated by the adaptor STING in dendritic cells. Nat Immunol. 2011 Sep 4;12(10):959-65. </ref>. | |
| − | + | Heterozygous mutation in the DDX41 gene has susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms (MPLPF), which is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line <ref>Maciejewski JP, Padgett RA, Brown AL, Müller-Tidow C. DDX41-related myeloid neoplasia. Semin Hematol. 2017 Apr;54(2):94-97.</ref><ref name=":0">Polprasert, C., Schulze, I., Sekeres, M. A., Makishima, H., Przychodzen, B., Hosono, N., Singh, J., Padgett, R. A., Gu, X., Phillips, J. G., Clemente, M., Parker, Y., and 24 others. Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell 27: 658-670, 2015. </ref><ref>Sanders MA. Lifting the veil on germline DDX41 mutations. Blood. 2019 Oct 24;134(17):1368-1370. </ref>. Most MPLPF patients present with myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), rare lymphoid malignancies (lymphomas), and immune dysregulation disorders including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance and a favorable response to treatment with lenalidomide <ref name=":0" /><ref>Lewinsohn, M., Brown, A. L., Weinel, L. M., Phung, C., Rafidi, G., Lee, M. K., Schreiber, A. W., Feng, J., Babic, M., Chong, C.-E., Lee, Y., Yong, A., and 18 others. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood 127: 1017-1023, 2016. </ref> | |
==Common Alteration Types== | ==Common Alteration Types== | ||
| − | Put your text here and | + | * DDX41 mutations and deletions |
| + | * Loss-of-Function Mutations | ||
| + | * Missense mutations (such as R164W, I396T, R525H) | ||
| + | * Truncating/frameshift mutations (such as Asp140fs) | ||
| + | * Splice-site mutations (such as del/ins mutation, c.435-2_435-1delAGinsCA, NM_016222.2 in the splice acceptor site of exon 6) | ||
| + | * Copy Number Loss: some cases of 5q- syndrome | ||
| + | |||
| + | Put your text here and fill in the table with an X where applicable | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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==Internal Pages== | ==Internal Pages== | ||
| − | + | [[HAEM4:Myeloid Neoplasms with Germline DDX41 Mutation]] | |
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==External Links== | ==External Links== | ||
| − | + | '''DDX41 by Atlas of Genetics and Cytogenetics in Oncology and Haematology''' - http://atlasgeneticsoncology.org//Genes/GC_DDX41.html | |
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| − | '''[ | + | '''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53 ''DDX41'' by COSMIC]''' - sequence information, expression, catalogue of mutations |
| − | '''[ | + | '''[https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=170744437 ''DDX41'' by CIViC]''' - general knowledge and evidence-based variant specific information |
| − | '''[https:// | + | '''[https://pecan.stjude.cloud/proteinpaint/DDX41 ''DDX41'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data. |
| − | '''[https://www. | + | '''[https://www.oncokb.org/gene/DDX3X DDX41 by OncoKB]''' - mutational landscape, mutation effect, variant classification |
| − | '''[ | + | '''[https://www.ncbi.nlm.nih.gov/gene/?term=DDX41 ''DDX41'' by NCBI Gene]''' - brief gene overview |
| − | '''[https:// | + | '''[https://www.mycancergenome.org/content/search/?query=DDX41 DDX41 by My Cancer Genome]''' - brief gene overview |
| − | '''[ | + | '''[https://www.uniprot.org/uniprot/Q9UJV9 ''DDX41'' by UniProt]''' - protein and molecular structure and function |
| − | '''[ | + | '''[https://pfam.xfam.org/search/keyword?query=DDX41 ''DDX41'' by Pfam]''' - gene and protein structure and function information |
| − | '''[https:// | + | '''[https://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX41&keywords=DDX41 ''DDX41'' by GeneCards]''' - general gene information and summaries |
| − | '''[ | + | '''[https://www.omim.org/entry/608170?search=DDX41&highlight=ddx41 ''DDX41'' by OMIM]''' - compendium of human genes and genetic phenotypes |
| − | '''[https://www.ncbi.nlm.nih.gov/ | + | '''DDX41''' '''[https://www.ncbi.nlm.nih.gov/gene/51428 GeneReviews]''' - information on Li Fraumeni Syndrome |
==References== | ==References== | ||
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| − | ==Notes== | + | == Notes == |
<nowiki>*</nowiki>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. | <nowiki>*</nowiki>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. | ||
[[Category:Cancer Genes D]] | [[Category:Cancer Genes D]] | ||
Latest revision as of 14:00, 12 December 2023
Primary Author(s)*
Ying Zou, MD, Ph.D. FACMG, The Johns Hopkins University
Synonyms
- DEAD-Box Helicase 41
- ABS
- DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 41
- Probable ATP-Dependent RNA Helicase DDX41
- DEAD Box Protein Abstrakt Homolog
- DEAD Box Protein 41
- DEAD-Box Protein Abstrakt
- Putative RNA Helicase
- EC 3.6.4.13
- EC 3.6.1
- MGC8828
- MPLPF
Genomic Location
Cytoband: 5q35.3
Genomic Coordinates: chr5:177,511,576-177,516,960 [hg38]
Cancer Category/Type
- Myeloproliferative Neoplasms
- Lymphoproliferative Neoplasms
- Familial and Leukemia, Acute Myeloid
Gene Overview
DDX41 (DEAD-Box Helicase 41) gene encodes an RNA helicase, which includes nucleic acid binding and helicase activity. Evidence suggests that it has a function in hematopoiesis and acts as a tumor suppressor gene [1][2].
Heterozygous mutation in the DDX41 gene has susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms (MPLPF), which is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line [3][4][5]. Most MPLPF patients present with myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), rare lymphoid malignancies (lymphomas), and immune dysregulation disorders including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance and a favorable response to treatment with lenalidomide [4][6]
Common Alteration Types
- DDX41 mutations and deletions
- Loss-of-Function Mutations
- Missense mutations (such as R164W, I396T, R525H)
- Truncating/frameshift mutations (such as Asp140fs)
- Splice-site mutations (such as del/ins mutation, c.435-2_435-1delAGinsCA, NM_016222.2 in the splice acceptor site of exon 6)
- Copy Number Loss: some cases of 5q- syndrome
Put your text here and 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
HAEM4:Myeloid Neoplasms with Germline DDX41 Mutation
External Links
DDX41 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - http://atlasgeneticsoncology.org//Genes/GC_DDX41.html
DDX41 by COSMIC - sequence information, expression, catalogue of mutations
DDX41 by CIViC - general knowledge and evidence-based variant specific information
DDX41 by St. Jude ProteinPaint mutational landscape and matched expression data.
DDX41 by OncoKB - mutational landscape, mutation effect, variant classification
DDX41 by NCBI Gene - brief gene overview
DDX41 by My Cancer Genome - brief gene overview
DDX41 by UniProt - protein and molecular structure and function
DDX41 by Pfam - gene and protein structure and function information
DDX41 by GeneCards - general gene information and summaries
DDX41 by OMIM - compendium of human genes and genetic phenotypes
DDX41 GeneReviews - information on Li Fraumeni Syndrome
References
- ↑ Irion, U., Leptin, M. Developmental and cell biological functions of the Drosophila DEAD-box protein Abstrakt. Curr. Biol. 9: 1373-1381, 1999.
- ↑ Zhang Z, Yuan B, Bao M, Lu N, Kim T, Liu YJ. The helicase DDX41 senses intracellular DNA mediated by the adaptor STING in dendritic cells. Nat Immunol. 2011 Sep 4;12(10):959-65.
- ↑ Maciejewski JP, Padgett RA, Brown AL, Müller-Tidow C. DDX41-related myeloid neoplasia. Semin Hematol. 2017 Apr;54(2):94-97.
- ↑ 4.0 4.1 Polprasert, C., Schulze, I., Sekeres, M. A., Makishima, H., Przychodzen, B., Hosono, N., Singh, J., Padgett, R. A., Gu, X., Phillips, J. G., Clemente, M., Parker, Y., and 24 others. Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell 27: 658-670, 2015.
- ↑ Sanders MA. Lifting the veil on germline DDX41 mutations. Blood. 2019 Oct 24;134(17):1368-1370.
- ↑ Lewinsohn, M., Brown, A. L., Weinel, L. M., Phung, C., Rafidi, G., Lee, M. K., Schreiber, A. W., Feng, J., Babic, M., Chong, C.-E., Lee, Y., Yong, A., and 18 others. Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood 127: 1017-1023, 2016.
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.