PMC:4385186 / 31440-32904
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4385186","sourcedb":"PMC","sourceid":"4385186","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4385186","text":"Mutations in ZNF750, a tumor-associated gene located at 17q25,7 were identified in 6% of ESCC tumors. We identified 11 somatic mutations, of which we verified (via Sanger sequencing) six, including two nonsense mutations (c.620G\u003eA [p.Trp207∗] and c.209C\u003eA [p.Ser70∗]), one indel (c.108_111del [p.Glu37Lysfs∗]), and three missense mutations (c.96T\u003eA [p.Phe32Leu], c.1520A\u003eC [p.Asp507Ala], and c.1508C\u003eG [p.Ser503Cys]) in ZNF750 in the 104-individual cohort. In addition, five (c.414C\u003eA [p.Cys138∗], c.770C\u003eA [p.Ser257∗], c.85C\u003eT [p.Gln29∗], c.625_626insAA [p.Ala209fs∗], and c.1621G\u003eA [p.Ala541Thr]) out of 11 somatic mutations were verified by Sanger sequencing in our previous cohort6 (n = 88; Figure 3B). Sixty-four percent of the mutations identified in ZNF750 are inactivating. Additionally, ZNF750 deletions, but no somatic mutations, were observed in 3 out of 14 tumor samples in the WGS set (21%, G-score \u003e 0.23) and validated with a qPCR copy-number assay. The qPCR copy-number assay also determined that four out of six tumor samples harboring ZNF750 mutations or indels in the 90-sample WES set were affected by deletions, indicating that inactivation of both alleles had occurred in these individuals (Figures S9A–S9C). Notably, frequent loss of heterozygosity at 17q25.3 has been previously reported in ESCC,42 but no gene at or near the 17q25.3 region was identified. Our genetic data strongly indicate that ZNF750 is the missing piece of this puzzle.","tracks":[{"project":"2_test","denotations":[{"id":"25839328-24686850-2052600","span":{"begin":62,"end":63},"obj":"24686850"},{"id":"25839328-24670651-2052601","span":{"begin":684,"end":685},"obj":"24670651"},{"id":"25839328-9609757-2052602","span":{"begin":1320,"end":1322},"obj":"9609757"}],"attributes":[{"subj":"25839328-24686850-2052600","pred":"source","obj":"2_test"},{"subj":"25839328-24670651-2052601","pred":"source","obj":"2_test"},{"subj":"25839328-9609757-2052602","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#b093ec","default":true}]}]}}