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PubMed:20971953 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-131 Sentence denotes Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair.
TextSentencer_T2 132-278 Sentence denotes Fanconi anemia (FA) is a rare familial genome instability syndrome caused by mutations in FA genes that results in defective DNA crosslink repair.
TextSentencer_T3 279-430 Sentence denotes Activation of the FA pathway requires the FA core ubiquitin ligase complex-dependent monoubiquitination of 2 interacting FA proteins, FANCI and FANCD2.
TextSentencer_T4 431-677 Sentence denotes Although loss of either FANCI or FANCD2 is known to prevent monoubiquitination of its respective partner, it is unclear whether FANCI has any additional domains that may be important in promoting DNA repair, independent of its monoubiquitination.
TextSentencer_T5 678-896 Sentence denotes Here, we focus on an FA-I patient-derived FANCI mutant protein, R1299X (deletion of 30 residues from its C-terminus), to characterize important structural region(s) in FANCI that is required to activate the FA pathway.
TextSentencer_T6 897-1167 Sentence denotes We show that, within this short 30 amino acid stretch contains 2 separable functional signatures, a nuclear localization signal and a putative EDGE motif, that is critical for the ability of FANCI to properly monoubiquitinate FANCD2 and promote DNA crosslink resistance.
TextSentencer_T7 1168-1369 Sentence denotes Our study enable us to conclude that, although proper nuclear localization of FANCI is crucial for robust FANCD2 monoubiquitination, the putative FANCI EDGE motif is important for DNA crosslink repair.
T1 0-131 Sentence denotes Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair.
T2 132-278 Sentence denotes Fanconi anemia (FA) is a rare familial genome instability syndrome caused by mutations in FA genes that results in defective DNA crosslink repair.
T3 279-430 Sentence denotes Activation of the FA pathway requires the FA core ubiquitin ligase complex-dependent monoubiquitination of 2 interacting FA proteins, FANCI and FANCD2.
T4 431-677 Sentence denotes Although loss of either FANCI or FANCD2 is known to prevent monoubiquitination of its respective partner, it is unclear whether FANCI has any additional domains that may be important in promoting DNA repair, independent of its monoubiquitination.
T5 678-896 Sentence denotes Here, we focus on an FA-I patient-derived FANCI mutant protein, R1299X (deletion of 30 residues from its C-terminus), to characterize important structural region(s) in FANCI that is required to activate the FA pathway.
T6 897-1167 Sentence denotes We show that, within this short 30 amino acid stretch contains 2 separable functional signatures, a nuclear localization signal and a putative EDGE motif, that is critical for the ability of FANCI to properly monoubiquitinate FANCD2 and promote DNA crosslink resistance.
T7 1168-1369 Sentence denotes Our study enable us to conclude that, although proper nuclear localization of FANCI is crucial for robust FANCD2 monoubiquitination, the putative FANCI EDGE motif is important for DNA crosslink repair.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 720-725 gene:55215 denotes FANCI
T1 885-887 disease:C3469521 denotes FA
T2 720-725 gene:55215 denotes FANCI
T3 885-887 disease:C0015625 denotes FA
T4 846-851 gene:55215 denotes FANCI
T5 699-701 disease:C3469521 denotes FA
T6 846-851 gene:55215 denotes FANCI
T7 699-701 disease:C0015625 denotes FA
T8 846-851 gene:55215 denotes FANCI
T9 885-887 disease:C3469521 denotes FA
T10 846-851 gene:55215 denotes FANCI
T11 885-887 disease:C0015625 denotes FA
R1 T0 T1 associated_with FANCI,FA
R2 T2 T3 associated_with FANCI,FA
R3 T4 T5 associated_with FANCI,FA
R4 T6 T7 associated_with FANCI,FA
R5 T8 T9 associated_with FANCI,FA
R6 T10 T11 associated_with FANCI,FA

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 140-146 HP_0001903 denotes anemia

Allie

Id Subject Object Predicate Lexical cue
SS1_20971953_1_0 132-146 expanded denotes Fanconi anemia
SS2_20971953_1_0 148-150 abbr denotes FA
AE1_20971953_1_0 SS1_20971953_1_0 SS2_20971953_1_0 abbreviatedTo Fanconi anemia,FA

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20971953-4#64#70#geners551305056 742-748 geners551305056 denotes R1299X
20971953-4#207#209#diseaseC3469521 885-887 diseaseC3469521 denotes FA
20971953-4#207#209#diseaseC0015625 885-887 diseaseC0015625 denotes FA
64#70#geners551305056207#209#diseaseC3469521 20971953-4#64#70#geners551305056 20971953-4#207#209#diseaseC3469521 associated_with R1299X,FA
64#70#geners551305056207#209#diseaseC0015625 20971953-4#64#70#geners551305056 20971953-4#207#209#diseaseC0015625 associated_with R1299X,FA

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20971953-4#42#47#gene55215 720-725 gene55215 denotes FANCI
20971953-4#168#173#gene55215 846-851 gene55215 denotes FANCI
20971953-4#21#23#diseaseC3469521 699-701 diseaseC3469521 denotes FA
20971953-4#21#23#diseaseC0015625 699-701 diseaseC0015625 denotes FA
20971953-4#207#209#diseaseC3469521 885-887 diseaseC3469521 denotes FA
20971953-4#207#209#diseaseC0015625 885-887 diseaseC0015625 denotes FA
20971953-4#21#23#diseaseC3469521 699-701 diseaseC3469521 denotes FA
20971953-4#21#23#diseaseC0015625 699-701 diseaseC0015625 denotes FA
20971953-4#207#209#diseaseC3469521 885-887 diseaseC3469521 denotes FA
20971953-4#207#209#diseaseC0015625 885-887 diseaseC0015625 denotes FA
42#47#gene5521521#23#diseaseC3469521 20971953-4#42#47#gene55215 20971953-4#21#23#diseaseC3469521 associated_with FANCI,FA
42#47#gene5521521#23#diseaseC0015625 20971953-4#42#47#gene55215 20971953-4#21#23#diseaseC0015625 associated_with FANCI,FA
42#47#gene55215207#209#diseaseC3469521 20971953-4#42#47#gene55215 20971953-4#207#209#diseaseC3469521 associated_with FANCI,FA
42#47#gene55215207#209#diseaseC0015625 20971953-4#42#47#gene55215 20971953-4#207#209#diseaseC0015625 associated_with FANCI,FA
42#47#gene5521521#23#diseaseC3469521 20971953-4#42#47#gene55215 20971953-4#21#23#diseaseC3469521 associated_with FANCI,FA
42#47#gene5521521#23#diseaseC0015625 20971953-4#42#47#gene55215 20971953-4#21#23#diseaseC0015625 associated_with FANCI,FA
42#47#gene55215207#209#diseaseC3469521 20971953-4#42#47#gene55215 20971953-4#207#209#diseaseC3469521 associated_with FANCI,FA
42#47#gene55215207#209#diseaseC0015625 20971953-4#42#47#gene55215 20971953-4#207#209#diseaseC0015625 associated_with FANCI,FA
168#173#gene5521521#23#diseaseC3469521 20971953-4#168#173#gene55215 20971953-4#21#23#diseaseC3469521 associated_with FANCI,FA
168#173#gene5521521#23#diseaseC0015625 20971953-4#168#173#gene55215 20971953-4#21#23#diseaseC0015625 associated_with FANCI,FA
168#173#gene55215207#209#diseaseC3469521 20971953-4#168#173#gene55215 20971953-4#207#209#diseaseC3469521 associated_with FANCI,FA
168#173#gene55215207#209#diseaseC0015625 20971953-4#168#173#gene55215 20971953-4#207#209#diseaseC0015625 associated_with FANCI,FA
168#173#gene5521521#23#diseaseC3469521 20971953-4#168#173#gene55215 20971953-4#21#23#diseaseC3469521 associated_with FANCI,FA
168#173#gene5521521#23#diseaseC0015625 20971953-4#168#173#gene55215 20971953-4#21#23#diseaseC0015625 associated_with FANCI,FA
168#173#gene55215207#209#diseaseC3469521 20971953-4#168#173#gene55215 20971953-4#207#209#diseaseC3469521 associated_with FANCI,FA
168#173#gene55215207#209#diseaseC0015625 20971953-4#168#173#gene55215 20971953-4#207#209#diseaseC0015625 associated_with FANCI,FA

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T2465 720-725 gene:55215 denotes FANCI
T2466 699-701 disease:C3469521 denotes FA
T2467 885-887 disease:C3469521 denotes FA
T2468 846-851 gene:55215 denotes FANCI
R1 T2465 T2466 associated_with FANCI,FA
R2 T2465 T2466 associated_with FANCI,FA
R3 T2465 T2467 associated_with FANCI,FA
R4 T2465 T2467 associated_with FANCI,FA
R5 T2468 T2466 associated_with FANCI,FA
R6 T2468 T2466 associated_with FANCI,FA
R7 T2468 T2467 associated_with FANCI,FA
R8 T2468 T2467 associated_with FANCI,FA