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392 bytes added , 18:29, 5 January 2019

→‎Primary Author(s)*

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==Primary Author(s)*==

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Kay Weng Choy MBBS

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Kay Weng Choy, MBBS, Monash Medical Centre

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'''Cytoband:''' 20q11.21

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'''Genomic Coordinates:'''

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'''Genomic Coordinates:'''

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~~Put your text here~~

chr20:32,358,330-32,439,319 (GRCh38/hg38)

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Stem cell transplantation is recommended in patients with PMF with presence of mutational status CALR-/ASXL+, as the mutational status is associated with a worse prognosis [21].

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''Colorectal cancer''

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''Colorectal cancer (CRC)''

ASXL1 is frequently mutated in colorectal cancer cell lines with microsatellite instability (MSI) [22]. The G8 mononucleotide repeat at nucleotide position c.1927 to c.1934 of the ASXL1 gene is susceptible to the deletion or insertion of a G nucleotide as a result of MSI [22]. The deletion of c.1934G (c.1934delG) causes a frameshift and the insertion of G between c.1934 and c.1935 (c.1934_1935insG) causes a frameshift [22]. The c.1934_1935insG ASXL1 mutation is reported to be resistant to nonsense-mediated decay in CRC with MSI and consequently is predicted to be expressed as a C-terminally truncated protein [22].

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The majority of ASXL1 mutations are nonsense or frameshift variants causing truncation of downstream of the ASXH domain with consequent loss of the PHD domain [1]. Some of the common variants reported in the Catalogue of Somatic Mutations in Cancer database (COSMIC) (accessed 6th August 2018) are c.2444T>C (NM_015338.5) (p.L815P) (n=97) (all AML), c.2077C>T (NM_015338.5) (p.R693*) (majority hematological malignancies), c.1934_1935insG (NM_015338.5) (p.G646Wfs*12) (majority hematological malignancies).

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~~{| class="wikitable sortable"~~

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|-

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~~! Copy Number Loss !! Copy Number Gain !! LOH !! Loss-of-Function Mutation !! Gain-of-Function Mutation !! Translocation/Fusion~~

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~~| || || || || ||~~

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==Internal Pages==

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==External Links==

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ASXL1 by Atlas of Genetics and Cytogenetics in Oncology – detailed gene information

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[http://atlasgeneticsoncology.org/Genes/ASXL1ID44553ch20q11.html ASXL1 by Atlas of Genetics and Cytogenetics in Oncology – detailed gene information]

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ASXL1 by COSMIC – sequence information, expression, catalogue of mutations

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[https://cancer.sanger.ac.uk/cosmic/search?q=ASXL1 ASXL1 by COSMIC – sequence information, expression, catalogue of mutations]

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ASXL1 by CIViC – general knowledge and evidence-based specific information

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[https://civicdb.org/events/genes/68/summary/variants/177/summary ASXL1 by CIViC – general knowledge and evidence-based specific information]

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ASXL1 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=ASXL1 ASXL1 by Precision Medicine Knowledgebase (Weill Cornell) – manually vetted interpretations of variants and CNVs]

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ASXL1 by Cancer Genetics Web – gene, pathway, and publication information matched to cancer type

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[http://www.cancerindex.org/geneweb/ASXL1.htm ASXL1 by Cancer Genetics Web – gene, pathway, and publication information matched to cancer type]

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ASXL1 by OncoKB – mutational landscape, mutation effect, variant classification

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[http://oncokb.org/#/gene/ASXL1effect, variant classification ASXL1 by OncoKB – mutational landscape, mutation effect, variant classification]

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ASXL1 by My Cancer Genome – brief gene overview

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[https://www.mycancergenome.org/content/gene/ASXL1 ASXL1 by My Cancer Genome – brief gene overview]

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ASXL1 by UniProt – protein and molecular structure and function

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[https://www.uniprot.org/uniprot/Q8IXJ9 ASXL1 by UniProt – protein and molecular structure and function]

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ASXL1 by Pfam – gene and protein structure and function information

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[https://pfam.xfam.org/search/keyword?query=ASXL1+ ASXL1 by Pfam – gene and protein structure and function information]

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ASXL1 by GeneCards – general gene information and summaries

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[https://www.genecards.org/cgi-bin/carddisp.pl?gene=ASXL1&keywords=ASXL1 ASXL1 by GeneCards – general gene information and summaries]

==References==

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22. Williams DS, et al., (2010). Nonsense mediated decay resistant mutations are a source of expressed mutant proteins in colon cancer cell lines with microsatellite instability. PLoS One 5(12):e16012. PMID 21209843

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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.

[[Category:Cancer Genes A]]

Kay.Choy

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ASXL1 (view source)

Revision as of 18:29, 5 January 2019