PMC:1892049 / 382-576 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1892049","sourcedb":"PMC","sourceid":"1892049","source_url":"http://www.ncbi.nlm.nih.gov/pmc/1892049","text":" Through linkage and sequence analysis we show here that this disorder is caused by a homozygous in-frame 18-bp deletion in Itpr1 (Itpr1Δ18/Δ18), encoding inositol 1,4,5-triphosphate receptor 1.","tracks":[{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T833","span":{"begin":21,"end":29},"obj":"SO_EXT:biological_sequence"},{"id":"T834","span":{"begin":97,"end":105},"obj":"SO:0001817"},{"id":"T835","span":{"begin":109,"end":111},"obj":"SO_EXT:0000028"},{"id":"T836","span":{"begin":112,"end":120},"obj":"SO_EXT:sequence_deletion_entity_or_process"},{"id":"T837","span":{"begin":124,"end":129},"obj":"PR_EXT:000009158"},{"id":"T838","span":{"begin":131,"end":136},"obj":"PR_EXT:000009158"},{"id":"T839","span":{"begin":146,"end":154},"obj":"SO_EXT:sequence_coding_function"},{"id":"T840","span":{"begin":155,"end":182},"obj":"CHEBI_EXT:1D_myo_inositol_1_4_5_trisphosphate"},{"id":"T841","span":{"begin":155,"end":191},"obj":"GO_EXT:0005220"},{"id":"T842","span":{"begin":155,"end":193},"obj":"PR_EXT:000009158"}],"attributes":[{"subj":"T833","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T834","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T835","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T836","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T837","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T838","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T839","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T840","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T841","pred":"source","obj":"craft-ca-core-ex-dev"},{"subj":"T842","pred":"source","obj":"craft-ca-core-ex-dev"}]},{"project":"craft-ca-core-dev","denotations":[{"id":"T796","span":{"begin":97,"end":105},"obj":"SO:0001817"},{"id":"T797","span":{"begin":109,"end":111},"obj":"SO:0000028"},{"id":"T798","span":{"begin":124,"end":129},"obj":"PR:000009158"},{"id":"T799","span":{"begin":131,"end":136},"obj":"PR:000009158"},{"id":"T800","span":{"begin":155,"end":193},"obj":"PR:000009158"}],"attributes":[{"subj":"T796","pred":"source","obj":"craft-ca-core-dev"},{"subj":"T797","pred":"source","obj":"craft-ca-core-dev"},{"subj":"T798","pred":"source","obj":"craft-ca-core-dev"},{"subj":"T799","pred":"source","obj":"craft-ca-core-dev"},{"subj":"T800","pred":"source","obj":"craft-ca-core-dev"}]},{"project":"craft-sa-dev","denotations":[{"id":"T933","span":{"begin":0,"end":194},"obj":"sentence"},{"id":"T934","span":{"begin":1,"end":8},"obj":"IN"},{"id":"T935","span":{"begin":42,"end":46},"obj":"VBP"},{"id":"T936","span":{"begin":9,"end":16},"obj":"NN"},{"id":"T937","span":{"begin":30,"end":38},"obj":"NN"},{"id":"T938","span":{"begin":17,"end":20},"obj":"CC"},{"id":"T939","span":{"begin":21,"end":29},"obj":"NN"},{"id":"T940","span":{"begin":39,"end":41},"obj":"PRP"},{"id":"T941","span":{"begin":47,"end":51},"obj":"RB"},{"id":"T942","span":{"begin":52,"end":56},"obj":"IN"},{"id":"T943","span":{"begin":74,"end":80},"obj":"VBN"},{"id":"T944","span":{"begin":57,"end":61},"obj":"DT"},{"id":"T945","span":{"begin":62,"end":70},"obj":"NN"},{"id":"T946","span":{"begin":71,"end":73},"obj":"VBZ"},{"id":"T947","span":{"begin":81,"end":83},"obj":"IN"},{"id":"T948","span":{"begin":84,"end":85},"obj":"DT"},{"id":"T949","span":{"begin":112,"end":120},"obj":"NN"},{"id":"T950","span":{"begin":86,"end":96},"obj":"JJ"},{"id":"T951","span":{"begin":97,"end":99},"obj":"IN"},{"id":"T952","span":{"begin":99,"end":100},"obj":"HYPH"},{"id":"T953","span":{"begin":100,"end":105},"obj":"NN"},{"id":"T954","span":{"begin":106,"end":108},"obj":"CD"},{"id":"T955","span":{"begin":109,"end":111},"obj":"NN"},{"id":"T956","span":{"begin":108,"end":109},"obj":"HYPH"},{"id":"T957","span":{"begin":121,"end":123},"obj":"IN"},{"id":"T958","span":{"begin":124,"end":129},"obj":"NN"},{"id":"T959","span":{"begin":130,"end":131},"obj":"-LRB-"},{"id":"T960","span":{"begin":140,"end":143},"obj":"NN"},{"id":"T961","span":{"begin":131,"end":136},"obj":"NN"},{"id":"T962","span":{"begin":136,"end":139},"obj":"NN"},{"id":"T963","span":{"begin":139,"end":140},"obj":"HYPH"},{"id":"T964","span":{"begin":143,"end":144},"obj":"-RRB-"},{"id":"T965","span":{"begin":144,"end":146},"obj":","},{"id":"T966","span":{"begin":146,"end":154},"obj":"VBG"},{"id":"T967","span":{"begin":155,"end":163},"obj":"NN"},{"id":"T968","span":{"begin":183,"end":191},"obj":"NN"},{"id":"T969","span":{"begin":164,"end":165},"obj":"CD"},{"id":"T970","span":{"begin":168,"end":169},"obj":"CD"},{"id":"T971","span":{"begin":165,"end":166},"obj":","},{"id":"T972","span":{"begin":166,"end":167},"obj":"CD"},{"id":"T973","span":{"begin":167,"end":168},"obj":","},{"id":"T974","span":{"begin":170,"end":182},"obj":"NN"},{"id":"T975","span":{"begin":169,"end":170},"obj":"HYPH"},{"id":"T976","span":{"begin":192,"end":193},"obj":"CD"},{"id":"T977","span":{"begin":193,"end":194},"obj":"."}],"relations":[{"id":"R66","pred":"det","subj":"T944","obj":"T945"},{"id":"R57","pred":"prep","subj":"T934","obj":"T935"},{"id":"R58","pred":"nmod","subj":"T936","obj":"T937"},{"id":"R60","pred":"cc","subj":"T938","obj":"T936"},{"id":"R61","pred":"conj","subj":"T939","obj":"T936"},{"id":"R62","pred":"nsubj","subj":"T940","obj":"T935"},{"id":"R63","pred":"advmod","subj":"T941","obj":"T935"},{"id":"R64","pred":"mark","subj":"T942","obj":"T943"},{"id":"R65","pred":"ccomp","subj":"T943","obj":"T935"},{"id":"R67","pred":"nsubjpass","subj":"T945","obj":"T943"},{"id":"R68","pred":"auxpass","subj":"T946","obj":"T943"},{"id":"R69","pred":"agent","subj":"T947","obj":"T943"},{"id":"R70","pred":"det","subj":"T948","obj":"T949"},{"id":"R71","pred":"pobj","subj":"T949","obj":"T947"},{"id":"R72","pred":"amod","subj":"T950","obj":"T949"},{"id":"R73","pred":"nmod","subj":"T951","obj":"T949"},{"id":"R74","pred":"punct","subj":"T952","obj":"T951"},{"id":"R75","pred":"pobj","subj":"T953","obj":"T951"},{"id":"R76","pred":"nummod","subj":"T954","obj":"T955"},{"id":"R77","pred":"compound","subj":"T955","obj":"T949"},{"id":"R78","pred":"punct","subj":"T956","obj":"T955"},{"id":"R79","pred":"prep","subj":"T957","obj":"T949"},{"id":"R80","pred":"pobj","subj":"T958","obj":"T957"},{"id":"R81","pred":"punct","subj":"T959","obj":"T960"},{"id":"R82","pred":"parataxis","subj":"T960","obj":"T958"},{"id":"R83","pred":"compound","subj":"T961","obj":"T960"},{"id":"R84","pred":"compound","subj":"T962","obj":"T960"},{"id":"R85","pred":"punct","subj":"T963","obj":"T960"},{"id":"R86","pred":"punct","subj":"T964","obj":"T960"},{"id":"R87","pred":"punct","subj":"T965","obj":"T949"},{"id":"R88","pred":"acl","subj":"T966","obj":"T949"},{"id":"R89","pred":"nmod","subj":"T967","obj":"T968"},{"id":"R90","pred":"dobj","subj":"T968","obj":"T966"},{"id":"R91","pred":"nummod","subj":"T969","obj":"T970"},{"id":"R93","pred":"punct","subj":"T971","obj":"T970"},{"id":"R94","pred":"nummod","subj":"T972","obj":"T970"},{"id":"R95","pred":"punct","subj":"T973","obj":"T970"},{"id":"R96","pred":"compound","subj":"T974","obj":"T968"},{"id":"R97","pred":"punct","subj":"T975","obj":"T974"},{"id":"R98","pred":"nummod","subj":"T976","obj":"T968"},{"id":"R99","pred":"punct","subj":"T977","obj":"T935"},{"id":"R59","pred":"pobj","subj":"T937","obj":"T934"},{"id":"R92","pred":"nummod","subj":"T970","obj":"T974"}],"attributes":[{"subj":"T933","pred":"source","obj":"craft-sa-dev"},{"subj":"T934","pred":"source","obj":"craft-sa-dev"},{"subj":"T935","pred":"source","obj":"craft-sa-dev"},{"subj":"T936","pred":"source","obj":"craft-sa-dev"},{"subj":"T937","pred":"source","obj":"craft-sa-dev"},{"subj":"T938","pred":"source","obj":"craft-sa-dev"},{"subj":"T939","pred":"source","obj":"craft-sa-dev"},{"subj":"T940","pred":"source","obj":"craft-sa-dev"},{"subj":"T941","pred":"source","obj":"craft-sa-dev"},{"subj":"T942","pred":"source","obj":"craft-sa-dev"},{"subj":"T943","pred":"source","obj":"craft-sa-dev"},{"subj":"T944","pred":"source","obj":"craft-sa-dev"},{"subj":"T945","pred":"source","obj":"craft-sa-dev"},{"subj":"T946","pred":"source","obj":"craft-sa-dev"},{"subj":"T947","pred":"source","obj":"craft-sa-dev"},{"subj":"T948","pred":"source","obj":"craft-sa-dev"},{"subj":"T949","pred":"source","obj":"craft-sa-dev"},{"subj":"T950","pred":"source","obj":"craft-sa-dev"},{"subj":"T951","pred":"source","obj":"craft-sa-dev"},{"subj":"T952","pred":"source","obj":"craft-sa-dev"},{"subj":"T953","pred":"source","obj":"craft-sa-dev"},{"subj":"T954","pred":"source","obj":"craft-sa-dev"},{"subj":"T955","pred":"source","obj":"craft-sa-dev"},{"subj":"T956","pred":"source","obj":"craft-sa-dev"},{"subj":"T957","pred":"source","obj":"craft-sa-dev"},{"subj":"T958","pred":"source","obj":"craft-sa-dev"},{"subj":"T959","pred":"source","obj":"craft-sa-dev"},{"subj":"T960","pred":"source","obj":"craft-sa-dev"},{"subj":"T961","pred":"source","obj":"craft-sa-dev"},{"subj":"T962","pred":"source","obj":"craft-sa-dev"},{"subj":"T963","pred":"source","obj":"craft-sa-dev"},{"subj":"T964","pred":"source","obj":"craft-sa-dev"},{"subj":"T965","pred":"source","obj":"craft-sa-dev"},{"subj":"T966","pred":"source","obj":"craft-sa-dev"},{"subj":"T967","pred":"source","obj":"craft-sa-dev"},{"subj":"T968","pred":"source","obj":"craft-sa-dev"},{"subj":"T969","pred":"source","obj":"craft-sa-dev"},{"subj":"T970","pred":"source","obj":"craft-sa-dev"},{"subj":"T971","pred":"source","obj":"craft-sa-dev"},{"subj":"T972","pred":"source","obj":"craft-sa-dev"},{"subj":"T973","pred":"source","obj":"craft-sa-dev"},{"subj":"T974","pred":"source","obj":"craft-sa-dev"},{"subj":"T975","pred":"source","obj":"craft-sa-dev"},{"subj":"T976","pred":"source","obj":"craft-sa-dev"},{"subj":"T977","pred":"source","obj":"craft-sa-dev"}]},{"project":"Biotea","denotations":[{"id":"T599","span":{"begin":62,"end":70},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/64572001"},{"id":"T604","span":{"begin":62,"end":70},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991"},{"id":"T636","span":{"begin":9,"end":16},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94542"},{"id":"T637","span":{"begin":21,"end":38},"obj":"http://purl.bioontology.org/ontology/MESH/D017421"},{"id":"T638","span":{"begin":21,"end":38},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565"},{"id":"T639","span":{"begin":21,"end":29},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43465"},{"id":"T640","span":{"begin":21,"end":29},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89252"},{"id":"T641","span":{"begin":21,"end":29},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13299"},{"id":"T642","span":{"begin":21,"end":29},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25673"},{"id":"T643","span":{"begin":21,"end":29},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45374"},{"id":"T644","span":{"begin":21,"end":29},"obj":"http://purl.obolibrary.org/obo/SO_0000001"},{"id":"T646","span":{"begin":30,"end":38},"obj":"http://purl.bioontology.org/ontology/MESH/Q000032"},{"id":"T647","span":{"begin":30,"end":38},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/272389005"},{"id":"T648","span":{"begin":30,"end":38},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391"},{"id":"T649","span":{"begin":86,"end":96},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45826"},{"id":"T650","span":{"begin":100,"end":105},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49963"},{"id":"T652","span":{"begin":100,"end":105},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63552"},{"id":"T654","span":{"begin":100,"end":105},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80261"},{"id":"T656","span":{"begin":100,"end":105},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/257297007"},{"id":"T658","span":{"begin":124,"end":129},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C51556"},{"id":"T669","span":{"begin":124,"end":129},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C24527"},{"id":"T678","span":{"begin":124,"end":129},"obj":"http://purl.obolibrary.org/obo/PR_000009158"},{"id":"T686","span":{"begin":146,"end":154},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80216"},{"id":"T687","span":{"begin":155,"end":182},"obj":"http://purl.bioontology.org/ontology/MESH/D015544"},{"id":"T688","span":{"begin":155,"end":182},"obj":"http://purl.bioontology.org/ontology/NDFRT/N0000168540"},{"id":"T689","span":{"begin":155,"end":163},"obj":"http://purl.bioontology.org/ontology/NDFRT/N0000146062"},{"id":"T690","span":{"begin":155,"end":163},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28163"},{"id":"T691","span":{"begin":155,"end":163},"obj":"http://purl.bioontology.org/ontology/NDDF/002057"},{"id":"T692","span":{"begin":155,"end":163},"obj":"http://purl.bioontology.org/ontology/NDFRT/N0000007204"},{"id":"T693","span":{"begin":155,"end":163},"obj":"http://purl.bioontology.org/ontology/MESH/D007294"},{"id":"T694","span":{"begin":155,"end":163},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/72164009"},{"id":"T695","span":{"begin":183,"end":191},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18106"},{"id":"T696","span":{"begin":183,"end":191},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T697","span":{"begin":183,"end":191},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T698","span":{"begin":183,"end":191},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T699","span":{"begin":183,"end":191},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T700","span":{"begin":183,"end":191},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T701","span":{"begin":183,"end":191},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T702","span":{"begin":183,"end":191},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T703","span":{"begin":183,"end":191},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T704","span":{"begin":183,"end":191},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T705","span":{"begin":183,"end":191},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/116647005"},{"id":"T490","span":{"begin":112,"end":120},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61330"},{"id":"T494","span":{"begin":112,"end":120},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19296"},{"id":"T498","span":{"begin":112,"end":120},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45583"},{"id":"T502","span":{"begin":112,"end":120},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45577"},{"id":"T506","span":{"begin":112,"end":120},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/737543005"}],"namespaces":[{"prefix":"omim","uri":"http://purl.bioontology.org/ontology/OMIM/"},{"prefix":"pr","uri":"http://purl.obolibrary.org/obo/PR_"}],"attributes":[{"subj":"T599","pred":"source","obj":"Biotea"},{"subj":"T604","pred":"source","obj":"Biotea"},{"subj":"T636","pred":"source","obj":"Biotea"},{"subj":"T637","pred":"source","obj":"Biotea"},{"subj":"T638","pred":"source","obj":"Biotea"},{"subj":"T639","pred":"source","obj":"Biotea"},{"subj":"T640","pred":"source","obj":"Biotea"},{"subj":"T641","pred":"source","obj":"Biotea"},{"subj":"T642","pred":"source","obj":"Biotea"},{"subj":"T643","pred":"source","obj":"Biotea"},{"subj":"T644","pred":"source","obj":"Biotea"},{"subj":"T646","pred":"source","obj":"Biotea"},{"subj":"T647","pred":"source","obj":"Biotea"},{"subj":"T648","pred":"source","obj":"Biotea"},{"subj":"T649","pred":"source","obj":"Biotea"},{"subj":"T650","pred":"source","obj":"Biotea"},{"subj":"T652","pred":"source","obj":"Biotea"},{"subj":"T654","pred":"source","obj":"Biotea"},{"subj":"T656","pred":"source","obj":"Biotea"},{"subj":"T658","pred":"source","obj":"Biotea"},{"subj":"T669","pred":"source","obj":"Biotea"},{"subj":"T678","pred":"source","obj":"Biotea"},{"subj":"T686","pred":"source","obj":"Biotea"},{"subj":"T687","pred":"source","obj":"Biotea"},{"subj":"T688","pred":"source","obj":"Biotea"},{"subj":"T689","pred":"source","obj":"Biotea"},{"subj":"T690","pred":"source","obj":"Biotea"},{"subj":"T691","pred":"source","obj":"Biotea"},{"subj":"T692","pred":"source","obj":"Biotea"},{"subj":"T693","pred":"source","obj":"Biotea"},{"subj":"T694","pred":"source","obj":"Biotea"},{"subj":"T695","pred":"source","obj":"Biotea"},{"subj":"T696","pred":"source","obj":"Biotea"},{"subj":"T697","pred":"source","obj":"Biotea"},{"subj":"T698","pred":"source","obj":"Biotea"},{"subj":"T699","pred":"source","obj":"Biotea"},{"subj":"T700","pred":"source","obj":"Biotea"},{"subj":"T701","pred":"source","obj":"Biotea"},{"subj":"T702","pred":"source","obj":"Biotea"},{"subj":"T703","pred":"source","obj":"Biotea"},{"subj":"T704","pred":"source","obj":"Biotea"},{"subj":"T705","pred":"source","obj":"Biotea"},{"subj":"T490","pred":"source","obj":"Biotea"},{"subj":"T494","pred":"source","obj":"Biotea"},{"subj":"T498","pred":"source","obj":"Biotea"},{"subj":"T502","pred":"source","obj":"Biotea"},{"subj":"T506","pred":"source","obj":"Biotea"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"craft-ca-core-ex-dev","color":"#ec93a8","default":true},{"id":"craft-ca-core-dev","color":"#93c2ec"},{"id":"craft-sa-dev","color":"#dcec93"},{"id":"Biotea","color":"#e193ec"}]}]}}