Difference between revisions of "DDX41"

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==Primary Author(s)*==
 
==Primary Author(s)*==
  
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Ying Zou, MD, Ph.D. FACMG, The Johns Hopkins University
  
 
__TOC__
 
__TOC__
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==Synonyms==
 
==Synonyms==
  
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* DEAD-Box Helicase 41
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* ABS
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* DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 41
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* Probable ATP-Dependent RNA Helicase DDX41
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* DEAD Box Protein Abstrakt Homolog
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* DEAD Box Protein 41
  
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EXAMPLE: Tumor protein p53, ''LFS1, p53, BCC7, TRP53''
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* DEAD-Box Protein Abstrakt
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* Putative RNA Helicase
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* EC 3.6.4.13
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* EC 3.6.1
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* MGC8828
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* MPLPF
  
 
==Genomic Location==
 
==Genomic Location==
  
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'''Cytoband:''' Put your text here. EXAMPLE: 17p13.1
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'''Cytoband:''' 5q35.3
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'''Genomic Coordinates:'''
 
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Put your text here
 
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EXAMPLE: chr17:7,571,720-7,590,868 [hg19]
 
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EXAMPLE: chr17:7,668,402-7,687,538 [hg38]
 
  
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'''Genomic Coordinates:''' chr5:177,511,576-177,516,960 [hg38]
 
==Cancer Category/Type==
 
==Cancer Category/Type==
  
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*'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''
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* Myeloproliferative Neoplasms
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* Lymphoproliferative Neoplasms
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* Familial and Leukemia, Acute Myeloid
  
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--- '''[http://www.ccga.io/index.php/Myeloid_Neoplasms_with_Germline_DDX41_Mutation Myeloid Neoplasms with Germline DDX41 Mutation]'''
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==Gene Overview==
  
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==Gene Overview==
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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>.
  
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Put your text here.
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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==
  
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Put your text here and/or fill in the table with an X where applicable
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* 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==
  
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[[Myeloid Neoplasms with Germline DDX41 Mutation]]
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[[HAEM4:Myeloid Neoplasms with Germline DDX41 Mutation]]
 
   
 
   
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EXAMPLE [[Germline Cancer Predisposition Genes]]
 
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==External Links==
 
==External Links==
  
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Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) NCBI Gene 9) My Cancer Genome, 10) UniProt, 11) Pfam, 12) GeneCards, 13) OMIM 14) Leiden Open Variation Database (LOVD(3)) 15) TICdb - database of Translocation breakpoints In Cancer 16)  GeneReviews, and 17) Any gene-specific databases.
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'''DDX41 by Atlas of Genetics and Cytogenetics in Oncology and Haematology''' - http://atlasgeneticsoncology.org//Genes/GC_DDX41.html
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EXAMPLES
 
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'''[http://atlasgeneticsoncology.org/Genes/P53ID88.html ''TP53'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
 
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'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53 ''TP53'' by COSMIC]''' - sequence information, expression, catalogue of mutations
 
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'''[https://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information
 
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'''[http://p53.iarc.fr/ ''TP53'' by IARC]''' - ''TP53'' database with reference sequences and mutational landscape
 
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'''[https://pecan.stjude.cloud/proteinpaint/tp53 ''TP53'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
 
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'''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=tp53 ''TP53'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs
 
  
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'''[http://www.cancerindex.org/geneweb/TP53.htm ''TP53'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type
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'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53 ''DDX41'' by COSMIC]''' - sequence information, expression, catalogue of mutations
  
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'''[http://oncokb.org/#/gene/TP53 ''TP53'' by OncoKB]''' - mutational landscape, mutation effect, variant classification
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'''[https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=170744437 ''DDX41'' by CIViC]''' - general knowledge and evidence-based variant specific information
  
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'''[https://www.ncbi.nlm.nih.gov/gene/2122 ''MECOM'' by NCBI Gene]''' - brief gene overview
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'''[https://pecan.stjude.cloud/proteinpaint/DDX41 ''DDX41'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
  
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'''[https://www.mycancergenome.org/content/gene/tp53/ ''TP53'' by My Cancer Genome]''' - brief gene overview
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'''[https://www.oncokb.org/gene/DDX3X DDX41 by OncoKB]''' - mutational landscape, mutation effect, variant classification
  
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'''[http://www.uniprot.org/uniprot/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function
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'''[https://www.ncbi.nlm.nih.gov/gene/?term=DDX41 ''DDX41'' by NCBI Gene]''' - brief gene overview
  
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'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information
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'''[https://www.mycancergenome.org/content/search/?query=DDX41 DDX41 by My Cancer Genome]''' - brief gene overview
  
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'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=tp53 ''TP53'' by GeneCards]''' - general gene information and summaries
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'''[https://www.uniprot.org/uniprot/Q9UJV9 ''DDX41'' by UniProt]''' - protein and molecular structure and function
  
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'''[http://www.omim.org/entry/165215 ''MECOM'' by OMIM]''' - compendium of human genes and genetic phenotypes
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'''[https://pfam.xfam.org/search/keyword?query=DDX41 ''DDX41'' by Pfam]''' - gene and protein structure and function information
  
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'''[https://databases.lovd.nl/shared/genes/MECOM ''MECOM'' by LOVD(3)]''' - Leiden Open Variation Database
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'''[https://www.genecards.org/cgi-bin/carddisp.pl?gene=DDX41&keywords=DDX41 ''DDX41'' by GeneCards]''' - general gene information and summaries
  
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'''[http://www.unav.es/genetica/TICdb/results.php?hgnc=MECOM ''MECOM'' by TICdb]''' - database of Translocation breakpoints In Cancer
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'''[https://www.omim.org/entry/608170?search=DDX41&highlight=ddx41 ''DDX41'' by OMIM]''' - compendium of human genes and genetic phenotypes
  
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'''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome
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'''DDX41''' '''[https://www.ncbi.nlm.nih.gov/gene/51428 GeneReviews]''' - information on Li Fraumeni Syndrome
  
 
==References==
 
==References==
  
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===EXAMPLE Book===
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<references />
−
 
+
#  
−
#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.
 
−
 
 
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===EXAMPLE Journal Article===
 
−
 
 
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#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.
 
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===EXAMPLE Internet Resource (CMS)===
 
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#author name(s).  Date (if possible). page title, website title, web address, and date accessed.
 
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#Cingam, S. R. and Koshy, N.V. (2017). Cancer, Leukemia, Promyelocytic, Acute (APL, APML). https://www.ncbi.nlm.nih.gov/books/NBK459352/ Accessed August 3, 2018.
 
  
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==Notes==
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== 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

  1. ↑ Irion, U., Leptin, M. Developmental and cell biological functions of the Drosophila DEAD-box protein Abstrakt. Curr. Biol. 9: 1373-1381, 1999.
  2. ↑ 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.
  3. ↑ Maciejewski JP, Padgett RA, Brown AL, Müller-Tidow C. DDX41-related myeloid neoplasia. Semin Hematol. 2017 Apr;54(2):94-97.
  4. ↑ 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.
  5. ↑ Sanders MA. Lifting the veil on germline DDX41 mutations. Blood. 2019 Oct 24;134(17):1368-1370.
  6. ↑ 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.

Retrieved from "https://ccga.io/index.php?title=DDX41&oldid=13608"