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Func. Impact of Rare…Variation from Deep Sequencing…Exomes http://www.sciencemag.org/content/337/6090/64.abstract Relation to Protein Structural features (eg a-helices)

Science 6 July 2012:
Vol. 337 no. 6090 pp. 64-69
DOI: 10.1126/science.1219240

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen1,*,
Abigail W. Bigham2,*,†,
Timothy D. O’Connor1,*,
Wenqing Fu1,
Eimear E. Kenny3,
Simon Gravel3,
Sean McGee1,
Ron Do4,5,
Xiaoming Liu6,
Goo Jun7,
Hyun Min Kang7,
Daniel Jordan8,
Suzanne M. Leal9,
Stacey Gabriel4,
Mark J. Rieder1,
Goncalo Abecasis7,
David Altshuler4,
Deborah A. Nickerson1,
Eric Boerwinkle6,10,
Shamil Sunyaev4,8,
Carlos D. Bustamante3,
Michael J. Bamshad1,2,‡,
Joshua M. Akey1,‡,
Broad GO,
Seattle GO,
on behalf of the NHLBI Exome Sequencing Project

Segal cites: Measurements of 1000s of…designed promoters
http://www.nature.com/nbt/journal/v30/n6/full/nbt.2205.html Num. binding sites correlated w/ expr., for 1st few #ICSG2015

Segal cites: Determinants of TF binding outside the core binding site http://genome.cshlp.org/content/early/2015/06/05/gr.185033.114.abstract Large-scale measurement of affinity #ICSG2015

Hendrickson cites: Structural insights into mis-regulation of PKA in…tumorshttp://www.pnas.org/content/112/5/1374 SNV stops reg. domain binding #ICSG2015

In other case showed recurring DnaJ–PKA fusion didn’t have coding effect but non-coding effect on promotor

vol. 112 no. 5
1374–1379, doi: 10.1073/pnas.1424206112
Structural insights into mis-regulation of protein kinase A in human tumors

Jonah Cheunga,1,
Christopher Gintera,
Michael Cassidya,
Matthew C. Franklina,
Michael J. Rudolpha,
Nicolas Robineb,
Robert B. Darnellb,c,d, and
Wayne A. Hendricksona,e,1

Evolution of…Enzyme Functions w/in Structural…Superfamilies http://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1002403 Most changes involve substrates rather than chemistry

develops functional change matrix…
based on 276 fams