PubMed:10477709 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":346,"end":368},"obj":"HP_0004808"},{"id":"T2","span":{"begin":352,"end":368},"obj":"HP_0012324"},{"id":"T3","span":{"begin":360,"end":368},"obj":"HP_0001909"},{"id":"T4","span":{"begin":612,"end":620},"obj":"HP_0001909"},{"id":"T5","span":{"begin":825,"end":834},"obj":"HP_0001909"}],"text":"Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).\nThe ETV6 gene (also known as TEL) is the main target of chromosomal translocations affecting chromosome band 12p13. The rearrangements fuse ETV6 to a wide variety of partner genes in both myeloid and lymphoid malignancies. We report here 4 new cases of acute myeloid leukemia (AML) with very immature myeloblasts (French-American-British [FAB]-M0) and with a t(4;12)(q11-q12;p13). In all cases, ETV6 was found recombined to a new gene, homologous to the mouse Brx gene. The gene was named BTL (Brx-like Translocated in Leukemia). Reverse transcriptase-polymerase chain reaction (RT-PCR) experiments indicate that the expression of the BTL-ETV6 transcript, but not of the reciprocal ETV6-BTL transcript, is a common finding in these leukemias. In contrast to the majority of other ETV6 fusions, both the complete helix-loop-helix (HLH) and ETS DNA binding domains of ETV6 are present in the predicted BTL-ETV6 fusion protein, and the chimeric gene is transcribed from the BTL promoter."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10477709-0#24#27#gene26511","span":{"begin":24,"end":27},"obj":"gene26511"},{"id":"10477709-0#32#36#gene2120","span":{"begin":32,"end":36},"obj":"gene2120"},{"id":"10477709-0#40#63#diseaseC0023467","span":{"begin":40,"end":63},"obj":"diseaseC0023467"},{"id":"10477709-6#105#108#gene26511","span":{"begin":728,"end":731},"obj":"gene26511"},{"id":"10477709-6#109#113#gene2120","span":{"begin":732,"end":736},"obj":"gene2120"},{"id":"10477709-6#152#156#gene2120","span":{"begin":775,"end":779},"obj":"gene2120"},{"id":"10477709-6#157#160#gene26511","span":{"begin":780,"end":783},"obj":"gene26511"},{"id":"10477709-6#202#211#diseaseC0023418","span":{"begin":825,"end":834},"obj":"diseaseC0023418"}],"relations":[{"id":"24#27#gene2651140#63#diseaseC0023467","pred":"associated_with","subj":"10477709-0#24#27#gene26511","obj":"10477709-0#40#63#diseaseC0023467"},{"id":"32#36#gene212040#63#diseaseC0023467","pred":"associated_with","subj":"10477709-0#32#36#gene2120","obj":"10477709-0#40#63#diseaseC0023467"},{"id":"105#108#gene26511202#211#diseaseC0023418","pred":"associated_with","subj":"10477709-6#105#108#gene26511","obj":"10477709-6#202#211#diseaseC0023418"},{"id":"109#113#gene2120202#211#diseaseC0023418","pred":"associated_with","subj":"10477709-6#109#113#gene2120","obj":"10477709-6#202#211#diseaseC0023418"},{"id":"152#156#gene2120202#211#diseaseC0023418","pred":"associated_with","subj":"10477709-6#152#156#gene2120","obj":"10477709-6#202#211#diseaseC0023418"},{"id":"157#160#gene26511202#211#diseaseC0023418","pred":"associated_with","subj":"10477709-6#157#160#gene26511","obj":"10477709-6#202#211#diseaseC0023418"}],"text":"Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).\nThe ETV6 gene (also known as TEL) is the main target of chromosomal translocations affecting chromosome band 12p13. The rearrangements fuse ETV6 to a wide variety of partner genes in both myeloid and lymphoid malignancies. We report here 4 new cases of acute myeloid leukemia (AML) with very immature myeloblasts (French-American-British [FAB]-M0) and with a t(4;12)(q11-q12;p13). In all cases, ETV6 was found recombined to a new gene, homologous to the mouse Brx gene. The gene was named BTL (Brx-like Translocated in Leukemia). Reverse transcriptase-polymerase chain reaction (RT-PCR) experiments indicate that the expression of the BTL-ETV6 transcript, but not of the reciprocal ETV6-BTL transcript, is a common finding in these leukemias. In contrast to the majority of other ETV6 fusions, both the complete helix-loop-helix (HLH) and ETS DNA binding domains of ETV6 are present in the predicted BTL-ETV6 fusion protein, and the chimeric gene is transcribed from the BTL promoter."}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":40,"end":63},"obj":"HP:0004808"},{"id":"AB1","span":{"begin":345,"end":367},"obj":"HP:0004808"},{"id":"AB2","span":{"begin":611,"end":619},"obj":"HP:0001909"},{"id":"AB3","span":{"begin":824,"end":833},"obj":"HP:0001909"}],"text":"Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).\nThe ETV6 gene (also known as TEL) is the main target of chromosomal translocations affecting chromosome band 12p13. The rearrangements fuse ETV6 to a wide variety of partner genes in both myeloid and lymphoid malignancies. We report here 4 new cases of acute myeloid leukemia (AML) with very immature myeloblasts (French-American-British [FAB]-M0) and with a t(4;12)(q11-q12;p13). In all cases, ETV6 was found recombined to a new gene, homologous to the mouse Brx gene. The gene was named BTL (Brx-like Translocated in Leukemia). Reverse transcriptase-polymerase chain reaction (RT-PCR) experiments indicate that the expression of the BTL-ETV6 transcript, but not of the reciprocal ETV6-BTL transcript, is a common finding in these leukemias. In contrast to the majority of other ETV6 fusions, both the complete helix-loop-helix (HLH) and ETS DNA binding domains of ETV6 are present in the predicted BTL-ETV6 fusion protein, and the chimeric gene is transcribed from the BTL promoter."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":32,"end":36},"obj":"gene:2120"},{"id":"T1","span":{"begin":40,"end":63},"obj":"disease:C0023467"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).\nThe ETV6 gene (also known as TEL) is the main target of chromosomal translocations affecting chromosome band 12p13. The rearrangements fuse ETV6 to a wide variety of partner genes in both myeloid and lymphoid malignancies. We report here 4 new cases of acute myeloid leukemia (AML) with very immature myeloblasts (French-American-British [FAB]-M0) and with a t(4;12)(q11-q12;p13). In all cases, ETV6 was found recombined to a new gene, homologous to the mouse Brx gene. The gene was named BTL (Brx-like Translocated in Leukemia). Reverse transcriptase-polymerase chain reaction (RT-PCR) experiments indicate that the expression of the BTL-ETV6 transcript, but not of the reciprocal ETV6-BTL transcript, is a common finding in these leukemias. In contrast to the majority of other ETV6 fusions, both the complete helix-loop-helix (HLH) and ETS DNA binding domains of ETV6 are present in the predicted BTL-ETV6 fusion protein, and the chimeric gene is transcribed from the BTL promoter."}