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ATR-X syndrome is caused by mutations in a gene (ATRX) that comprises 36 exons spanning 300 kb of genomic DNA at Chromosome Xq13.3 [3]. This gene encodes two dominant protein isoforms (Figure 1). As well as the full-length ATRX protein of ~280 kDa, which is encoded by a transcript of ~10 kb, we recently demonstrated that a truncated isoform called ATRXt (~200 kDa) is produced from a transcript of around 7 kb, which arises when intron 11 fails to be spliced from the primary transcript and an alternative intronic poly(A) signal is used [4]. The mouse homolog of the ATRX gene, Atrx, is also situated on the X chromosome, and also gives rise to full-length (Atrx, ~280 kDa) and truncated (Atrxt, ~200 kDa) isoforms [4,5]."}

{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T612","span":{"begin":8,"end":9},"obj":"GO:0000805"},{"id":"T613","span":{"begin":32,"end":41},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T614","span":{"begin":47,"end":51},"obj":"SO_EXT:0000704"},{"id":"T615","span":{"begin":53,"end":57},"obj":"PR_EXT:000004503"},{"id":"T616","span":{"begin":77,"end":82},"obj":"SO_EXT:0000147"},{"id":"T617","span":{"begin":97,"end":98},"obj":"CHEBI_SO_EXT:base"},{"id":"T618","span":{"begin":102,"end":113},"obj":"SO_EXT:genomic_DNA"},{"id":"T619","span":{"begin":110,"end":113},"obj":"CHEBI_SO_EXT:DNA"},{"id":"T620","span":{"begin":117,"end":127},"obj":"GO_SO_EXT:chromosome"},{"id":"T621","span":{"begin":145,"end":149},"obj":"SO_EXT:0000704"},{"id":"T622","span":{"begin":150,"end":157},"obj":"SO_EXT:sequence_coding_function"},{"id":"T623","span":{"begin":171,"end":178},"obj":"CHEBI_PR_EXT:protein"},{"id":"T624","span":{"begin":179,"end":187},"obj":"SO_EXT:0001060"},{"id":"T625","span":{"begin":227,"end":231},"obj":"PR_EXT:000004503"},{"id":"T626","span":{"begin":232,"end":239},"obj":"CHEBI_PR_EXT:protein"},{"id":"T627","span":{"begin":262,"end":269},"obj":"SO_EXT:sequence_coding_function"},{"id":"T628","span":{"begin":275,"end":285},"obj":"SO_EXT:0000673"},{"id":"T629","span":{"begin":294,"end":295},"obj":"CHEBI_SO_EXT:base"},{"id":"T630","span":{"begin":329,"end":338},"obj":"SO_EXT:sequence_truncation_process"},{"id":"T631","span":{"begin":339,"end":346},"obj":"SO_EXT:0001060"},{"id":"T632","span":{"begin":390,"end":400},"obj":"SO_EXT:0000673"},{"id":"T633","span":{"begin":414,"end":415},"obj":"CHEBI_SO_EXT:base"},{"id":"T634","span":{"begin":435,"end":441},"obj":"SO_EXT:0000188"},{"id":"T635","span":{"begin":457,"end":464},"obj":"GO:0008380"},{"id":"T636","span":{"begin":474,"end":492},"obj":"SO_EXT:0000185"},{"id":"T637","span":{"begin":512,"end":520},"obj":"SO_EXT:0000188"},{"id":"T638","span":{"begin":521,"end":535},"obj":"SO_EXT:0000551"},{"id":"T639","span":{"begin":526,"end":527},"obj":"CHEBI_EXT:adenine_nucleobase_or_nucleoside_or_nucleotide_molecular_entity_or_group"},{"id":"T640","span":{"begin":553,"end":558},"obj":"NCBITaxon:10088"},{"id":"T641","span":{"begin":559,"end":566},"obj":"SO_EXT:0000853"},{"id":"T642","span":{"begin":574,"end":578},"obj":"PR_EXT:000004503"},{"id":"T643","span":{"begin":579,"end":583},"obj":"SO_EXT:0000704"},{"id":"T644","span":{"begin":585,"end":589},"obj":"PR_EXT:000004503"},{"id":"T645","span":{"begin":615,"end":627},"obj":"GO:0000805"},{"id":"T646","span":{"begin":617,"end":627},"obj":"GO_SO_EXT:chromosome"},{"id":"T647","span":{"begin":665,"end":669},"obj":"PR_EXT:000004503"},{"id":"T648","span":{"begin":685,"end":694},"obj":"SO_EXT:sequence_truncation_process"},{"id":"T649","span":{"begin":713,"end":721},"obj":"SO_EXT:0001060"}],"text":"The ATR-X syndrome is caused by mutations in a gene (ATRX) that comprises 36 exons spanning 300 kb of genomic DNA at Chromosome Xq13.3 [3]. This gene encodes two dominant protein isoforms (Figure 1). As well as the full-length ATRX protein of ~280 kDa, which is encoded by a transcript of ~10 kb, we recently demonstrated that a truncated isoform called ATRXt (~200 kDa) is produced from a transcript of around 7 kb, which arises when intron 11 fails to be spliced from the primary transcript and an alternative intronic poly(A) signal is used [4]. The mouse homolog of the ATRX gene, Atrx, is also situated on the X chromosome, and also gives rise to full-length (Atrx, ~280 kDa) and truncated (Atrxt, ~200 kDa) isoforms [4,5]."}

{"project":"2_test","denotations":[{"id":"16628246-7697714-85799736","span":{"begin":136,"end":137},"obj":"7697714"},{"id":"16628246-14729260-85799737","span":{"begin":545,"end":546},"obj":"14729260"},{"id":"16628246-14729260-85799738","span":{"begin":723,"end":724},"obj":"14729260"},{"id":"16628246-9545503-85799739","span":{"begin":725,"end":726},"obj":"9545503"},{"id":"T12925","span":{"begin":136,"end":137},"obj":"7697714"},{"id":"T41498","span":{"begin":545,"end":546},"obj":"14729260"},{"id":"T70541","span":{"begin":723,"end":724},"obj":"14729260"},{"id":"T45835","span":{"begin":725,"end":726},"obj":"9545503"}],"text":"The ATR-X syndrome is caused by mutations in a gene (ATRX) that comprises 36 exons spanning 300 kb of genomic DNA at Chromosome Xq13.3 [3]. This gene encodes two dominant protein isoforms (Figure 1). As well as the full-length ATRX protein of ~280 kDa, which is encoded by a transcript of ~10 kb, we recently demonstrated that a truncated isoform called ATRXt (~200 kDa) is produced from a transcript of around 7 kb, which arises when intron 11 fails to be spliced from the primary transcript and an alternative intronic poly(A) signal is used [4]. The mouse homolog of the ATRX gene, Atrx, is also situated on the X chromosome, and also gives rise to full-length (Atrx, ~280 kDa) and truncated (Atrxt, ~200 kDa) isoforms [4,5]."}

{"project":"craft-ca-core-dev","denotations":[{"id":"T513","span":{"begin":8,"end":9},"obj":"GO:0000805"},{"id":"T514","span":{"begin":47,"end":51},"obj":"SO:0000704"},{"id":"T515","span":{"begin":53,"end":57},"obj":"PR:000004503"},{"id":"T516","span":{"begin":77,"end":82},"obj":"SO:0000147"},{"id":"T517","span":{"begin":102,"end":109},"obj":"SO:0001026"},{"id":"T518","span":{"begin":145,"end":149},"obj":"SO:0000704"},{"id":"T519","span":{"begin":179,"end":187},"obj":"SO:0001060"},{"id":"T520","span":{"begin":227,"end":231},"obj":"PR:000004503"},{"id":"T521","span":{"begin":275,"end":285},"obj":"SO:0000673"},{"id":"T522","span":{"begin":339,"end":346},"obj":"SO:0001060"},{"id":"T523","span":{"begin":390,"end":400},"obj":"SO:0000673"},{"id":"T524","span":{"begin":435,"end":441},"obj":"SO:0000188"},{"id":"T525","span":{"begin":457,"end":464},"obj":"GO:0008380"},{"id":"T526","span":{"begin":474,"end":492},"obj":"SO:0000185"},{"id":"T527","span":{"begin":512,"end":520},"obj":"SO:0000188"},{"id":"T528","span":{"begin":521,"end":535},"obj":"SO:0000551"},{"id":"T529","span":{"begin":553,"end":558},"obj":"NCBITaxon:10088"},{"id":"T530","span":{"begin":559,"end":566},"obj":"SO:0000853"},{"id":"T531","span":{"begin":574,"end":578},"obj":"PR:000004503"},{"id":"T532","span":{"begin":579,"end":583},"obj":"SO:0000704"},{"id":"T533","span":{"begin":585,"end":589},"obj":"PR:000004503"},{"id":"T534","span":{"begin":615,"end":627},"obj":"GO:0000805"},{"id":"T535","span":{"begin":665,"end":669},"obj":"PR:000004503"},{"id":"T536","span":{"begin":713,"end":721},"obj":"SO:0001060"}],"text":"The ATR-X syndrome is caused by mutations in a gene (ATRX) that comprises 36 exons spanning 300 kb of genomic DNA at Chromosome Xq13.3 [3]. This gene encodes two dominant protein isoforms (Figure 1). As well as the full-length ATRX protein of ~280 kDa, which is encoded by a transcript of ~10 kb, we recently demonstrated that a truncated isoform called ATRXt (~200 kDa) is produced from a transcript of around 7 kb, which arises when intron 11 fails to be spliced from the primary transcript and an alternative intronic poly(A) signal is used [4]. The mouse homolog of the ATRX gene, Atrx, is also situated on the X chromosome, and also gives rise to full-length (Atrx, ~280 kDa) and truncated (Atrxt, ~200 kDa) isoforms [4,5]."}