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Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma

Overview of attention for article published in Proceedings of the National Academy of Sciences of the United States of America, July 2013
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (93rd percentile)
  • Good Attention Score compared to outputs of the same age and source (68th percentile)

Mentioned by

news
2 news outlets
twitter
7 X users
patent
1 patent
facebook
1 Facebook page

Citations

dimensions_citation
152 Dimensions

Readers on

mendeley
203 Mendeley
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3 CiteULike
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Title
Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma
Published in
Proceedings of the National Academy of Sciences of the United States of America, July 2013
DOI 10.1073/pnas.1304227110
Pubmed ID
Authors

Jared J. Gartner, Stephen C. J. Parker, Todd D. Prickett, Ken Dutton-Regester, Michael L. Stitzel, Jimmy C. Lin, Sean Davis, Vijaya L. Simhadri, Sujata Jha, Nobuko Katagiri, Valer Gotea, Jamie K. Teer, Xiaomu Wei, Mario A. Morken, Umesh K. Bhanot, Guo Chen, Laura L. Elnitski, Michael A. Davies, Jeffrey E. Gershenwald, Hannah Carter, Rachel Karchin, William Robinson, Steven Robinson, Steven A. Rosenberg, Francis S. Collins, Giovanni Parmigiani, Anton A. Komar, Chava Kimchi-Sarfaty, Nicholas K. Hayward, Elliott H. Margulies, Yardena Samuels, Jesse Becker, Betty Benjamin, Robert Blakesley, Gerry Bouffard, Shelise Brooks, Holly Coleman, Mila Dekhtyar, Michael Gregory, Xiaobin Guan, Jyoti Gupta, Joel Han, April Hargrove, Shi-ling Ho, Taccara Johnson, Richelle Legaspi, Sean Lovett, Quino Maduro, Cathy Masiello, Baishali Maskeri, Jenny McDowell, Casandra Montemayor, James Mullikin, Morgan Park, Nancy Riebow, Karen Schandler, Brian Schmidt, Christina Sison, Mal Stantripop, James Thomas, Pam Thomas, Meg Vemulapalli, Alice Young

Abstract

Synonymous mutations, which do not alter the protein sequence, have been shown to affect protein function [Sauna ZE, Kimchi-Sarfaty C (2011) Nat Rev Genet 12(10):683-691]. However, synonymous mutations are rarely investigated in the cancer genomics field. We used whole-genome and -exome sequencing to identify somatic mutations in 29 melanoma samples. Validation of one synonymous somatic mutation in BCL2L12 in 285 samples identified 12 cases that harbored the recurrent F17F mutation. This mutation led to increased BCL2L12 mRNA and protein levels because of differential targeting of WT and mutant BCL2L12 by hsa-miR-671-5p. Protein made from mutant BCL2L12 transcript bound p53, inhibited UV-induced apoptosis more efficiently than WT BCL2L12, and reduced endogenous p53 target gene transcription. This report shows selection of a recurrent somatic synonymous mutation in cancer. Our data indicate that silent alterations have a role to play in human cancer, emphasizing the importance of their investigation in future cancer genome studies.

X Demographics

X Demographics

The data shown below were collected from the profiles of 7 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 203 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 4 2%
Netherlands 2 <1%
United Kingdom 2 <1%
Korea, Republic of 1 <1%
Australia 1 <1%
Brazil 1 <1%
Sweden 1 <1%
Germany 1 <1%
Denmark 1 <1%
Other 3 1%
Unknown 186 92%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 47 23%
Researcher 39 19%
Student > Master 23 11%
Professor 14 7%
Student > Bachelor 11 5%
Other 44 22%
Unknown 25 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 87 43%
Biochemistry, Genetics and Molecular Biology 47 23%
Medicine and Dentistry 22 11%
Engineering 3 1%
Immunology and Microbiology 2 <1%
Other 14 7%
Unknown 28 14%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 24. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 May 2023.
All research outputs
#1,483,729
of 24,625,114 outputs
Outputs from Proceedings of the National Academy of Sciences of the United States of America
#20,205
of 101,438 outputs
Outputs of similar age
#12,602
of 203,660 outputs
Outputs of similar age from Proceedings of the National Academy of Sciences of the United States of America
#282
of 900 outputs
Altmetric has tracked 24,625,114 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 101,438 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 38.8. This one has done well, scoring higher than 80% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 203,660 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 93% of its contemporaries.
We're also able to compare this research output to 900 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 68% of its contemporaries.