PubMed:10339464 JSONTXT

Annnotations TAB JSON ListView MergeView

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/10339464","sourcedb":"PubMed","sourceid":"10339464","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/10339464","text":"The apoptosis inhibitor gene API2 and a novel 18q gene, MLT, are recurrently rearranged in the t(11;18)(q21;q21) associated with mucosa-associated lymphoid tissue lymphomas.\nMarginal zone cell lymphomas of the mucosa-associated lymphoid tissue (MALT) are the most common subtype of lymphoma arising at extranodal sites. The t(11;18)(q21;q21) appears to be the key genetic lesion and is found in approximately 50% of cytogenetically abnormal low-grade MALT lymphomas. We show that the API2 gene, encoding an inhibitor of apoptosis also known as c-IAP2, HIAP1, and MIHC, and a novel gene on 18q21 characterized by several Ig-like C2-type domains, named MLT, are recurrently rearranged in the t(11;18). In both MALT lymphomas analyzed, the breakpoint in API2 occurred in the intron separating the exons coding respectively for the baculovirus IAP repeat domains and the caspase recruitment domain. The breakpoints within MLT differed but the open reading frame was conserved in both cases. In one case, the translocation was accompanied by a cryptic deletion involving the 3' part of API2. As a result, the reciprocal transcript was not present, strongly suggesting that the API2-MLT fusion is involved in the oncogenesis of MALT lymphoma.","tracks":[{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":193,"end":202},"obj":"HP_0002665"},{"id":"T2","span":{"begin":282,"end":290},"obj":"HP_0002665"},{"id":"T3","span":{"begin":456,"end":465},"obj":"HP_0002665"},{"id":"T4","span":{"begin":713,"end":722},"obj":"HP_0002665"},{"id":"T5","span":{"begin":1227,"end":1235},"obj":"HP_0002665"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"},{"subj":"T5","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":56,"end":59},"obj":"gene:51776"},{"id":"T1","span":{"begin":163,"end":172},"obj":"disease:C0024299"},{"id":"T2","span":{"begin":56,"end":59},"obj":"gene:10892"},{"id":"T3","span":{"begin":163,"end":172},"obj":"disease:C0024299"},{"id":"T4","span":{"begin":56,"end":59},"obj":"gene:51776"},{"id":"T5","span":{"begin":129,"end":162},"obj":"disease:C0242647"},{"id":"T6","span":{"begin":56,"end":59},"obj":"gene:10892"},{"id":"T7","span":{"begin":129,"end":162},"obj":"disease:C0242647"},{"id":"T8","span":{"begin":29,"end":33},"obj":"gene:330"},{"id":"T9","span":{"begin":163,"end":172},"obj":"disease:C0024299"},{"id":"T10","span":{"begin":29,"end":33},"obj":"gene:330"},{"id":"T11","span":{"begin":129,"end":162},"obj":"disease:C0242647"},{"id":"T12","span":{"begin":1177,"end":1180},"obj":"gene:51776"},{"id":"T13","span":{"begin":1222,"end":1235},"obj":"disease:C0242647"},{"id":"T14","span":{"begin":1177,"end":1180},"obj":"gene:10892"},{"id":"T15","span":{"begin":1222,"end":1235},"obj":"disease:C0242647"},{"id":"T16","span":{"begin":1177,"end":1180},"obj":"gene:51776"},{"id":"T17","span":{"begin":1207,"end":1218},"obj":"disease:C0596263"},{"id":"T18","span":{"begin":1177,"end":1180},"obj":"gene:10892"},{"id":"T19","span":{"begin":1207,"end":1218},"obj":"disease:C0596263"},{"id":"T20","span":{"begin":1172,"end":1176},"obj":"gene:330"},{"id":"T21","span":{"begin":1222,"end":1235},"obj":"disease:C0242647"},{"id":"T22","span":{"begin":1172,"end":1176},"obj":"gene:330"},{"id":"T23","span":{"begin":1207,"end":1218},"obj":"disease:C0596263"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"},{"id":"R8","pred":"associated_with","subj":"T14","obj":"T15"},{"id":"R9","pred":"associated_with","subj":"T16","obj":"T17"},{"id":"R10","pred":"associated_with","subj":"T18","obj":"T19"},{"id":"R11","pred":"associated_with","subj":"T20","obj":"T21"},{"id":"R12","pred":"associated_with","subj":"T22","obj":"T23"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"},{"subj":"T6","pred":"source","obj":"DisGeNET"},{"subj":"T7","pred":"source","obj":"DisGeNET"},{"subj":"T8","pred":"source","obj":"DisGeNET"},{"subj":"T9","pred":"source","obj":"DisGeNET"},{"subj":"T10","pred":"source","obj":"DisGeNET"},{"subj":"T11","pred":"source","obj":"DisGeNET"},{"subj":"T12","pred":"source","obj":"DisGeNET"},{"subj":"T13","pred":"source","obj":"DisGeNET"},{"subj":"T14","pred":"source","obj":"DisGeNET"},{"subj":"T15","pred":"source","obj":"DisGeNET"},{"subj":"T16","pred":"source","obj":"DisGeNET"},{"subj":"T17","pred":"source","obj":"DisGeNET"},{"subj":"T18","pred":"source","obj":"DisGeNET"},{"subj":"T19","pred":"source","obj":"DisGeNET"},{"subj":"T20","pred":"source","obj":"DisGeNET"},{"subj":"T21","pred":"source","obj":"DisGeNET"},{"subj":"T22","pred":"source","obj":"DisGeNET"},{"subj":"T23","pred":"source","obj":"DisGeNET"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10339464-0#56#59#gene10892","span":{"begin":56,"end":59},"obj":"gene10892"},{"id":"10339464-0#56#59#gene51776","span":{"begin":56,"end":59},"obj":"gene51776"},{"id":"10339464-0#56#59#gene10892","span":{"begin":56,"end":59},"obj":"gene10892"},{"id":"10339464-0#56#59#gene51776","span":{"begin":56,"end":59},"obj":"gene51776"},{"id":"10339464-0#29#33#gene330","span":{"begin":29,"end":33},"obj":"gene330"},{"id":"10339464-0#129#162#diseaseC0242647","span":{"begin":129,"end":162},"obj":"diseaseC0242647"},{"id":"10339464-0#163#172#diseaseC0024299","span":{"begin":163,"end":172},"obj":"diseaseC0024299"},{"id":"10339464-0#129#162#diseaseC0242647","span":{"begin":129,"end":162},"obj":"diseaseC0242647"},{"id":"10339464-0#163#172#diseaseC0024299","span":{"begin":163,"end":172},"obj":"diseaseC0024299"},{"id":"10339464-7#85#89#gene330","span":{"begin":1172,"end":1176},"obj":"gene330"},{"id":"10339464-7#90#93#gene10892","span":{"begin":1177,"end":1180},"obj":"gene10892"},{"id":"10339464-7#90#93#gene51776","span":{"begin":1177,"end":1180},"obj":"gene51776"},{"id":"10339464-7#90#93#gene10892","span":{"begin":1177,"end":1180},"obj":"gene10892"},{"id":"10339464-7#90#93#gene51776","span":{"begin":1177,"end":1180},"obj":"gene51776"},{"id":"10339464-7#85#89#gene330","span":{"begin":1172,"end":1176},"obj":"gene330"},{"id":"10339464-7#135#148#diseaseC1850900","span":{"begin":1222,"end":1235},"obj":"diseaseC1850900"},{"id":"10339464-7#120#131#diseaseC0596263","span":{"begin":1207,"end":1218},"obj":"diseaseC0596263"},{"id":"10339464-7#135#148#diseaseC1850900","span":{"begin":1222,"end":1235},"obj":"diseaseC1850900"},{"id":"10339464-7#120#131#diseaseC0596263","span":{"begin":1207,"end":1218},"obj":"diseaseC0596263"}],"relations":[{"id":"56#59#gene10892129#162#diseaseC0242647","pred":"associated_with","subj":"10339464-0#56#59#gene10892","obj":"10339464-0#129#162#diseaseC0242647"},{"id":"56#59#gene10892163#172#diseaseC0024299","pred":"associated_with","subj":"10339464-0#56#59#gene10892","obj":"10339464-0#163#172#diseaseC0024299"},{"id":"56#59#gene10892129#162#diseaseC0242647","pred":"associated_with","subj":"10339464-0#56#59#gene10892","obj":"10339464-0#129#162#diseaseC0242647"},{"id":"56#59#gene10892163#172#diseaseC0024299","pred":"associated_with","subj":"10339464-0#56#59#gene10892","obj":"10339464-0#163#172#diseaseC0024299"},{"id":"56#59#gene51776129#162#diseaseC0242647","pred":"associated_with","subj":"10339464-0#56#59#gene51776","obj":"10339464-0#129#162#diseaseC0242647"},{"id":"56#59#gene51776163#172#diseaseC0024299","pred":"associated_with","subj":"10339464-0#56#59#gene51776","obj":"10339464-0#163#172#diseaseC0024299"},{"id":"56#59#gene51776129#162#diseaseC0242647","pred":"associated_with","subj":"10339464-0#56#59#gene51776","obj":"10339464-0#129#162#diseaseC0242647"},{"id":"56#59#gene51776163#172#diseaseC0024299","pred":"associated_with","subj":"10339464-0#56#59#gene51776","obj":"10339464-0#163#172#diseaseC0024299"},{"id":"56#59#gene10892129#162#diseaseC0242647","pred":"associated_with","subj":"10339464-0#56#59#gene10892","obj":"10339464-0#129#162#diseaseC0242647"},{"id":"56#59#gene10892163#172#diseaseC0024299","pred":"associated_with","subj":"10339464-0#56#59#gene10892","obj":"10339464-0#163#172#diseaseC0024299"},{"id":"56#59#gene10892129#162#diseaseC0242647","pred":"associated_with","subj":"10339464-0#56#59#gene10892","obj":"10339464-0#129#162#diseaseC0242647"},{"id":"56#59#gene10892163#172#diseaseC0024299","pred":"associated_with","subj":"10339464-0#56#59#gene10892","obj":"10339464-0#163#172#diseaseC0024299"},{"id":"56#59#gene51776129#162#diseaseC0242647","pred":"associated_with","subj":"10339464-0#56#59#gene51776","obj":"10339464-0#129#162#diseaseC0242647"},{"id":"56#59#gene51776163#172#diseaseC0024299","pred":"associated_with","subj":"10339464-0#56#59#gene51776","obj":"10339464-0#163#172#diseaseC0024299"},{"id":"56#59#gene51776129#162#diseaseC0242647","pred":"associated_with","subj":"10339464-0#56#59#gene51776","obj":"10339464-0#129#162#diseaseC0242647"},{"id":"56#59#gene51776163#172#diseaseC0024299","pred":"associated_with","subj":"10339464-0#56#59#gene51776","obj":"10339464-0#163#172#diseaseC0024299"},{"id":"29#33#gene330129#162#diseaseC0242647","pred":"associated_with","subj":"10339464-0#29#33#gene330","obj":"10339464-0#129#162#diseaseC0242647"},{"id":"29#33#gene330163#172#diseaseC0024299","pred":"associated_with","subj":"10339464-0#29#33#gene330","obj":"10339464-0#163#172#diseaseC0024299"},{"id":"29#33#gene330129#162#diseaseC0242647","pred":"associated_with","subj":"10339464-0#29#33#gene330","obj":"10339464-0#129#162#diseaseC0242647"},{"id":"29#33#gene330163#172#diseaseC0024299","pred":"associated_with","subj":"10339464-0#29#33#gene330","obj":"10339464-0#163#172#diseaseC0024299"},{"id":"85#89#gene330135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#85#89#gene330","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"85#89#gene330120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#85#89#gene330","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"85#89#gene330135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#85#89#gene330","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"85#89#gene330120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#85#89#gene330","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"90#93#gene10892135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#90#93#gene10892","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"90#93#gene10892120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#90#93#gene10892","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"90#93#gene10892135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#90#93#gene10892","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"90#93#gene10892120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#90#93#gene10892","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"90#93#gene51776135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#90#93#gene51776","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"90#93#gene51776120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#90#93#gene51776","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"90#93#gene51776135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#90#93#gene51776","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"90#93#gene51776120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#90#93#gene51776","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"90#93#gene10892135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#90#93#gene10892","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"90#93#gene10892120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#90#93#gene10892","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"90#93#gene10892135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#90#93#gene10892","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"90#93#gene10892120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#90#93#gene10892","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"90#93#gene51776135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#90#93#gene51776","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"90#93#gene51776120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#90#93#gene51776","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"90#93#gene51776135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#90#93#gene51776","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"90#93#gene51776120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#90#93#gene51776","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"85#89#gene330135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#85#89#gene330","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"85#89#gene330120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#85#89#gene330","obj":"10339464-7#120#131#diseaseC0596263"},{"id":"85#89#gene330135#148#diseaseC1850900","pred":"associated_with","subj":"10339464-7#85#89#gene330","obj":"10339464-7#135#148#diseaseC1850900"},{"id":"85#89#gene330120#131#diseaseC0596263","pred":"associated_with","subj":"10339464-7#85#89#gene330","obj":"10339464-7#120#131#diseaseC0596263"}],"attributes":[{"subj":"10339464-0#56#59#gene10892","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-0#56#59#gene51776","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-0#56#59#gene10892","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-0#56#59#gene51776","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-0#29#33#gene330","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-0#129#162#diseaseC0242647","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-0#163#172#diseaseC0024299","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-0#129#162#diseaseC0242647","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-0#163#172#diseaseC0024299","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-7#85#89#gene330","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-7#90#93#gene10892","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-7#90#93#gene51776","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-7#90#93#gene10892","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-7#90#93#gene51776","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-7#85#89#gene330","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-7#135#148#diseaseC1850900","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-7#120#131#diseaseC0596263","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-7#135#148#diseaseC1850900","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10339464-7#120#131#diseaseC0596263","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubmedHPO","color":"#93ece4","default":true},{"id":"DisGeNET","color":"#ecca93"},{"id":"DisGeNET5_gene_disease","color":"#b093ec"}]}]}}