Difference between revisions of "KIT"
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==Primary Author(s)*== | ==Primary Author(s)*== | ||
− | + | Brian Davis PhD | |
__TOC__ | __TOC__ | ||
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EXAMPLES | EXAMPLES | ||
− | '''[http://atlasgeneticsoncology.org/Genes/ | + | '''[http://atlasgeneticsoncology.org/Genes/KITID127..html ''KIT'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information |
+ | |||
+ | '''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=kit ''KIT'' by COSMIC]''' - sequence information, expression, catalogue of mutations | ||
+ | |||
+ | '''[https://civicdb.org/events/genes/29/summary/variants/66/summary ''KIT'' by CIViC]''' - general knowledge and evidence-based variant specific information | ||
− | '''[https:// | + | '''[https://pecan.stjude.cloud/proteinpaint/kit ''KIT'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data. |
− | '''[https:// | + | '''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=kit ''KIT'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs |
− | '''[http:// | + | '''[http://www.cancerindex.org/geneweb/KIT.htm ''KIT'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type |
− | '''[ | + | '''[http://oncokb.org/#/gene/kit ''KIT'' by OncoKB]''' - mutational landscape, mutation effect, variant classification |
− | '''[https:// | + | '''[https://www.mycancergenome.org/content/gene/kit/ ''KIT'' by My Cancer Genome]''' - brief gene overview |
− | '''[http://www. | + | '''[http://www.uniprot.org/uniprot/P10721 ''KIT'' by UniProt]''' - protein and molecular structure and function |
− | '''[http:// | + | '''[http://pfam.xfam.org/protein/P10721 ''KIT'' by Pfam]''' - gene and protein structure and function information |
− | '''[ | + | '''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=kit ''TP53'' by GeneCards]''' - general gene information and summaries |
− | '''[ | + | '''[https://www.ncbi.nlm.nih.gov/gene/3815 ''KIT'' by NCBI Gene]''' - general gene information and summaries |
− | '''[ | + | '''[http://www.omim.org/entry/164920 ''KIT'' by OMIM]''' - compendium of human genes and genetic phenotypes |
− | '''[ | + | '''[https://databases.lovd.nl/shared/genes/kit ''KIT'' by LOVD(3)]''' - Leiden Open Variation Database |
− | '''[ | + | '''[http://www.unav.es/genetica/TICdb/results.php?hgnc=kit ''KIT'' by TICdb]''' - database of Translocation breakpoints In Cancer |
==References== | ==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. | |
− | |||
− | + | 2. Schafer, E.S. . et al. (2015). Molecular Genetics of Acute Lymphoblastic Leukemia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406. | |
− | |||
== Notes == | == Notes == |
Revision as of 13:59, 2 August 2018
Primary Author(s)*
Brian Davis PhD
Synonyms
Put your text here
EXAMPLE: Tumor protein p53, LFS1, p53, BCC7, TRP53
Genomic Location
Cytoband: Put your text here. EXAMPLE: 17p13.1
Genomic Coordinates:
Put your text here
EXAMPLE: chr17:7,571,720-7,590,868 [hg19]
EXAMPLE: chr17:7,668,402-7,687,538 [hg38]
Cancer Category/Type
Put your text here
Gene Overview
Put your text here.
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
KIT by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
KIT by COSMIC - sequence information, expression, catalogue of mutations
KIT by CIViC - general knowledge and evidence-based variant specific information
KIT by St. Jude ProteinPaint mutational landscape and matched expression data.
KIT by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
KIT by Cancer Index - gene, pathway, publication information matched to cancer type
KIT by OncoKB - mutational landscape, mutation effect, variant classification
KIT by My Cancer Genome - brief gene overview
KIT by UniProt - protein and molecular structure and function
KIT by Pfam - gene and protein structure and function information
TP53 by GeneCards - general gene information and summaries
KIT by NCBI Gene - general gene information and summaries
KIT by OMIM - compendium of human genes and genetic phenotypes
KIT by LOVD(3) - Leiden Open Variation Database
KIT by TICdb - database of Translocation breakpoints In Cancer
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.
2. Schafer, E.S. . et al. (2015). Molecular Genetics of Acute Lymphoblastic Leukemia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.
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.