Difference between revisions of "PML"

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(Created page with "==Primary Author(s)*== Put your text here __TOC__ ==Synonyms== Put your text here EXAMPLE: Tumor protein p53, ''LFS1, p53, BCC7, TRP53'' ==Genomic Location== '''Cytoban...")
 
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==Primary Author(s)*==
 
==Primary Author(s)*==
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Brian Davis PhD
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Put your text here
 
  
 
__TOC__
 
__TOC__
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==Synonyms==
 
==Synonyms==
  
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Put your text here
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"Promyelocytic Leukemia"; "Tripartite Motif-Containing Protein 19"; TRIM19; "RING Finger Protein 71"; RNF71; MYL
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EXAMPLE: Tumor protein p53, ''LFS1, p53, BCC7, TRP53''
 
  
 
==Genomic Location==
 
==Genomic Location==
  
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'''Cytoband:''' Put your text here. EXAMPLE: 17p13.1
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'''Cytoband:''' 15q24.1
  
 
'''Genomic Coordinates:'''  
 
'''Genomic Coordinates:'''  
  
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Put your text here
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chr15:74,287,014-74,340,160(GRCh37/hg19)
  
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EXAMPLE: chr17:7,571,720-7,590,868 [hg19]
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chr15:73,994,673-74,047,819(GRCh38/hg38)
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EXAMPLE: chr17:7,668,402-7,687,538 [hg38]
 
  
 
==Cancer Category/Type==
 
==Cancer Category/Type==
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==Gene Overview==
 
==Gene Overview==
  
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Put your text here.
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localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL).
  
 
==Common Alteration Types==
 
==Common Alteration Types==
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EXAMPLES
 
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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'''[http://http://atlasgeneticsoncology.org//Genes/PMLID41.html ''PML'' 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://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=pml ''PML'' 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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'''[https://civicdb.org/events/genes/39/summary/variants/108/summary ''PML-RARA'' 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/pml ''PML'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
  
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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=pml ''PML'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs
  
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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/PML.htm ''PML'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type
  
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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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'''[http://oncokb.org/#/gene/pml ''PML'' by OncoKB]''' - mutational landscape, mutation effect, variant classification
  
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'''[http://oncokb.org/#/gene/TP53 ''TP53'' by OncoKB]''' - mutational landscape, mutation effect, variant classification
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'''[https://www.mycancergenome.org/content/gene/pml/ ''PML'' by My Cancer Genome]''' - brief gene overview
  
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'''[https://www.mycancergenome.org/content/gene/tp53/ ''TP53'' by My Cancer Genome]''' - brief gene overview
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'''[http://www.uniprot.org/uniprot/P29590 ''PML'' by UniProt]''' - protein and molecular structure and function
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'''[http://www.uniprot.org/uniprot/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function
 
  
 
'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information
 
'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information
  
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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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'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=pml ''PML'' by GeneCards]''' - general gene information and summaries
  
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'''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome
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'''[https://www.ncbi.nlm.nih.gov/gene?cmd=Retrieve&dopt=full_report&list_uids=5371 "PML" by NCBI Gene]''' - general gene information and summaries
  
 
==References==
 
==References==
  
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=== EXAMPLE Book ===
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1. 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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#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.
 
  
 
== 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.

Revision as of 16:45, 26 July 2018

Primary Author(s)*

Brian Davis PhD

Synonyms

"Promyelocytic Leukemia"; "Tripartite Motif-Containing Protein 19"; TRIM19; "RING Finger Protein 71"; RNF71; MYL

Genomic Location

Cytoband: 15q24.1

Genomic Coordinates:

chr15:74,287,014-74,340,160(GRCh37/hg19)

chr15:73,994,673-74,047,819(GRCh38/hg38)

Cancer Category/Type

Put your text here

Gene Overview

localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL).

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

Put your text here

EXAMPLE Germline Cancer Predisposition Genes

External Links

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 Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.

EXAMPLES

PML by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

PML by COSMIC - sequence information, expression, catalogue of mutations

PML-RARA by CIViC - general knowledge and evidence-based variant specific information

PML by St. Jude ProteinPaint mutational landscape and matched expression data.

PML by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

PML by Cancer Index - gene, pathway, publication information matched to cancer type

PML by OncoKB - mutational landscape, mutation effect, variant classification

PML by My Cancer Genome - brief gene overview

PML by UniProt - protein and molecular structure and function

TP53 by Pfam - gene and protein structure and function information

PML by GeneCards - general gene information and summaries

"PML" by NCBI Gene - general gene information and summaries

References

1. 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.

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.

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