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PubMed:21976953 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-86 Sentence denotes Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.
T2 87-95 Sentence denotes PURPOSE:
T3 96-199 Sentence denotes To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS).
T4 200-208 Sentence denotes METHODS:
T5 209-311 Sentence denotes Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations.
T6 312-439 Sentence denotes Genomic DNA was extracted from leukocytes of venous blood of six individuals in the family and 170 healthy Chinese individuals.
T7 440-607 Sentence denotes All of the 65 coding exons and their flanking intronic boundaries of FBN1 were amplified in the proband by polymerase chain reaction and followed by direct sequencing.
T8 608-749 Sentence denotes The mutation identified in the proband was screened in the other family members and the 170 healthy Chinese individuals by direct sequencing.
T9 750-839 Sentence denotes Protein conservation analysis was performed in six species using an online ClustalW tool.
T10 840-987 Sentence denotes Protein structure was modeled based on the Protein data bank and mutated in DeepView v4.0.1 to predict the functional consequences of the mutation.
T11 988-996 Sentence denotes RESULTS:
T12 997-1164 Sentence denotes A novel heterozygous c.3703T>C change in exon 29 of FBN1 was detected in the proband, which resulted in the substitution of serine by proline at codon 1235 (p.S1235P).
T13 1165-1309 Sentence denotes This mutation was also present in two family members but absent in the other, unaffected family members and the 170 healthy Chinese individuals.
T14 1310-1503 Sentence denotes The mutant residue located in the calcium binding epidermal growth factor-like#15 domain is highly conserved among mammalian species and could probably induce conformation change of the domain.
T15 1504-1516 Sentence denotes CONCLUSIONS:
T16 1517-1622 Sentence denotes We indentified a novel p.S1235P mutation in FBN1, which is the causative mutation for MFS in this family.
T17 1623-1750 Sentence denotes Our result expands the mutation spectrum of FBN1 and contributes to the study of the molecular pathogenesis of Marfan syndrome.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 1142-1147 OrganismTaxon denotes codon NCBItxid:79338

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
8935 26-30 GeneOrGeneProduct denotes FBN1 NCBIGene:2200
8936 70-85 DiseaseOrPhenotypicFeature denotes Marfan syndrome MESH:D008382
8937 128-139 GeneOrGeneProduct denotes fibrillin-1 NCBIGene:2200
8938 146-150 GeneOrGeneProduct denotes FBN1 NCBIGene:2200
8939 177-192 DiseaseOrPhenotypicFeature denotes Marfan syndrome MESH:D008382
8940 194-197 DiseaseOrPhenotypicFeature denotes MFS MESH:D008382
8941 209-217 OrganismTaxon denotes Patients NCBITaxon:9606
8942 509-513 GeneOrGeneProduct denotes FBN1 NCBIGene:2200
8943 1018-1027 SequenceVariant denotes c.3703T>C c|SUB|T|3703|C
8944 1049-1053 GeneOrGeneProduct denotes FBN1 NCBIGene:2200
8945 1121-1152 SequenceVariant denotes serine by proline at codon 1235 p|SUB|S|1235|P
8946 1154-1162 SequenceVariant denotes p.S1235P p|SUB|S|1235|P
8947 1344-1351 ChemicalEntity denotes calcium MESH:D002118
8948 1360-1383 GeneOrGeneProduct denotes epidermal growth factor NCBIGene:1956
8949 1540-1548 SequenceVariant denotes p.S1235P p|SUB|S|1235|P
8950 1561-1565 GeneOrGeneProduct denotes FBN1 NCBIGene:2200
8951 1603-1606 DiseaseOrPhenotypicFeature denotes MFS MESH:D008382
8952 1667-1671 GeneOrGeneProduct denotes FBN1 NCBIGene:2200
8953 1734-1749 DiseaseOrPhenotypicFeature denotes Marfan syndrome MESH:D008382

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 70-85 DiseaseOrPhenotypicFeature denotes Marfan syndrome 0007947
T2 177-192 DiseaseOrPhenotypicFeature denotes Marfan syndrome 0007947
T3 248-256 DiseaseOrPhenotypicFeature denotes complete 0700063
T4 1734-1749 DiseaseOrPhenotypicFeature denotes Marfan syndrome 0007947

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1018-1027 SequenceVariant denotes c.3703T>C
T2 1154-1162 SequenceVariant denotes p.S1235P
T3 1540-1548 SequenceVariant denotes p.S1235P

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 20-25 GeneOrGeneProduct denotes novel
T2 26-30 GeneOrGeneProduct denotes FBN1
T3 36-44 GeneOrGeneProduct denotes mutation
T4 77-85 GeneOrGeneProduct denotes syndrome
T5 112-120 GeneOrGeneProduct denotes mutation
T6 128-139 GeneOrGeneProduct denotes fibrillin-1
T7 146-150 GeneOrGeneProduct denotes FBN1
T8 184-192 GeneOrGeneProduct denotes syndrome
T9 200-207 GeneOrGeneProduct denotes METHODS
T10 440-443 GeneOrGeneProduct denotes All
T11 509-513 GeneOrGeneProduct denotes FBN1
T12 547-557 GeneOrGeneProduct denotes polymerase
T13 558-563 GeneOrGeneProduct denotes chain
T14 612-620 GeneOrGeneProduct denotes mutation
T15 667-672 GeneOrGeneProduct denotes other
T16 750-757 GeneOrGeneProduct denotes Protein
T17 758-770 GeneOrGeneProduct denotes conservation
T18 840-847 GeneOrGeneProduct denotes Protein
T19 870-875 GeneOrGeneProduct denotes based
T20 883-890 GeneOrGeneProduct denotes Protein
T21 896-900 GeneOrGeneProduct denotes bank
T22 905-912 GeneOrGeneProduct denotes mutated
T23 935-942 GeneOrGeneProduct denotes predict
T24 978-986 GeneOrGeneProduct denotes mutation
T25 999-1004 GeneOrGeneProduct denotes novel
T26 1049-1053 GeneOrGeneProduct denotes FBN1
T27 1170-1178 GeneOrGeneProduct denotes mutation
T28 1236-1241 GeneOrGeneProduct denotes other
T29 1314-1320 GeneOrGeneProduct denotes mutant
T30 1344-1359 GeneOrGeneProduct denotes calcium binding
T31 1360-1383 GeneOrGeneProduct denotes epidermal growth factor
T32 1384-1388 GeneOrGeneProduct denotes like
T33 1402-1408 GeneOrGeneProduct denotes highly
T34 1409-1418 GeneOrGeneProduct denotes conserved
T35 1453-1461 GeneOrGeneProduct denotes probably
T36 1462-1468 GeneOrGeneProduct denotes induce
T37 1534-1539 GeneOrGeneProduct denotes novel
T38 1549-1557 GeneOrGeneProduct denotes mutation
T39 1561-1565 GeneOrGeneProduct denotes FBN1
T40 1590-1598 GeneOrGeneProduct denotes mutation
T41 1634-1641 GeneOrGeneProduct denotes expands
T42 1646-1654 GeneOrGeneProduct denotes mutation
T43 1667-1671 GeneOrGeneProduct denotes FBN1
T44 1741-1749 GeneOrGeneProduct denotes syndrome

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 20-25 GeneOrGeneProduct denotes novel
T2 26-30 GeneOrGeneProduct denotes FBN1
T3 77-85 GeneOrGeneProduct denotes syndrome
T4 128-139 GeneOrGeneProduct denotes fibrillin-1
T5 146-150 GeneOrGeneProduct denotes FBN1
T6 184-192 GeneOrGeneProduct denotes syndrome
T7 509-513 GeneOrGeneProduct denotes FBN1
T8 547-557 GeneOrGeneProduct denotes polymerase
T9 558-563 GeneOrGeneProduct denotes chain
T10 667-672 GeneOrGeneProduct denotes other
T11 750-757 GeneOrGeneProduct denotes Protein
T12 840-847 GeneOrGeneProduct denotes Protein
T13 883-890 GeneOrGeneProduct denotes Protein
T14 999-1004 GeneOrGeneProduct denotes novel
T15 1049-1053 GeneOrGeneProduct denotes FBN1
T16 1236-1241 GeneOrGeneProduct denotes other
T17 1314-1320 GeneOrGeneProduct denotes mutant
T18 1344-1359 GeneOrGeneProduct denotes calcium binding
T19 1360-1383 GeneOrGeneProduct denotes epidermal growth factor
T20 1384-1388 GeneOrGeneProduct denotes like
T21 1409-1418 GeneOrGeneProduct denotes conserved
T22 1534-1539 GeneOrGeneProduct denotes novel
T23 1561-1565 GeneOrGeneProduct denotes FBN1
T24 1667-1671 GeneOrGeneProduct denotes FBN1
T25 1741-1749 GeneOrGeneProduct denotes syndrome

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 70-85 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382
T2 177-192 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382
T3 194-197 DiseaseOrPhenotypicFeature denotes MFS D008382
T4 1603-1606 DiseaseOrPhenotypicFeature denotes MFS D008382
T5 1734-1749 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 26-30 GeneOrGeneProduct denotes FBN1
T2 128-139 GeneOrGeneProduct denotes fibrillin-1
T3 146-150 GeneOrGeneProduct denotes FBN1
T4 509-513 GeneOrGeneProduct denotes FBN1
T5 1049-1053 GeneOrGeneProduct denotes FBN1
T6 1360-1383 GeneOrGeneProduct denotes epidermal growth factor
T7 1561-1565 GeneOrGeneProduct denotes FBN1
T8 1667-1671 GeneOrGeneProduct denotes FBN1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 70-85 DiseaseOrPhenotypicFeature denotes Marfan syndrome 0007947
T2 177-192 DiseaseOrPhenotypicFeature denotes Marfan syndrome 0007947
T3 194-197 DiseaseOrPhenotypicFeature denotes MFS 0019202|0007947
T5 1603-1606 DiseaseOrPhenotypicFeature denotes MFS 0019202|0007947
T7 1734-1749 DiseaseOrPhenotypicFeature denotes Marfan syndrome 0007947

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 70-85 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382
T2 177-192 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382
T3 194-197 DiseaseOrPhenotypicFeature denotes MFS D008382
T4 1603-1606 DiseaseOrPhenotypicFeature denotes MFS D008382
T5 1734-1749 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 70-85 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382
T2 177-192 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382
T3 194-197 DiseaseOrPhenotypicFeature denotes MFS D008382
T4 1603-1606 DiseaseOrPhenotypicFeature denotes MFS D008382
T5 1734-1749 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 1121-1127 ChemicalEntity denotes serine http://purl.obolibrary.org/obo/CHEBI_17822
T2 1131-1138 ChemicalEntity denotes proline http://purl.obolibrary.org/obo/CHEBI_26271|http://purl.obolibrary.org/obo/CHEBI_17203
T4 1344-1351 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T4 1344-1351 ChemicalEntity denotes calcium http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118
T2 1131-1138 ChemicalEntity denotes proline http://purl.obolibrary.org/obo/CHEBI_17203|http://purl.obolibrary.org/obo/CHEBI_26271
T1 1121-1127 ChemicalEntity denotes serine http://purl.obolibrary.org/obo/CHEBI_17822
T8 1667-1671 GeneOrGeneProduct denotes FBN1
T7 1561-1565 GeneOrGeneProduct denotes FBN1
T6 1360-1383 GeneOrGeneProduct denotes epidermal growth factor
T5 1049-1053 GeneOrGeneProduct denotes FBN1
T15127 509-513 GeneOrGeneProduct denotes FBN1
T3 146-150 GeneOrGeneProduct denotes FBN1
T19296 128-139 GeneOrGeneProduct denotes fibrillin-1
T29029 26-30 GeneOrGeneProduct denotes FBN1
T3739 1734-1749 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382
T15661 1603-1606 DiseaseOrPhenotypicFeature denotes MFS D008382
T11256 194-197 DiseaseOrPhenotypicFeature denotes MFS D008382
T27687 177-192 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382
T6400 70-85 DiseaseOrPhenotypicFeature denotes Marfan syndrome D008382
T77760 1540-1548 SequenceVariant denotes p.S1235P
T12486 1154-1162 SequenceVariant denotes p.S1235P
T63468 1018-1027 SequenceVariant denotes c.3703T>C

DisGeNET

Id Subject Object Predicate Lexical cue
T0 26-30 gene:2200 denotes FBN1
T1 70-85 disease:C0024796 denotes Marfan syndrome
T2 146-150 gene:2200 denotes FBN1
T3 177-192 disease:C0024796 denotes Marfan syndrome
T4 128-139 gene:2200 denotes fibrillin-1
T5 194-197 disease:C0024796 denotes MFS
T6 146-150 gene:2200 denotes FBN1
T7 194-197 disease:C0024796 denotes MFS
T8 128-139 gene:2200 denotes fibrillin-1
T9 177-192 disease:C0024796 denotes Marfan syndrome
R1 T0 T1 associated_with FBN1,Marfan syndrome
R2 T2 T3 associated_with FBN1,Marfan syndrome
R3 T4 T5 associated_with fibrillin-1,MFS
R4 T6 T7 associated_with FBN1,MFS
R5 T8 T9 associated_with fibrillin-1,Marfan syndrome

Allie

Id Subject Object Predicate Lexical cue
SS1_21976953_2_0 128-144 expanded denotes fibrillin-1 gene
SS2_21976953_2_0 146-150 abbr denotes FBN1
SS1_21976953_2_1 177-192 expanded denotes Marfan syndrome
SS2_21976953_2_1 194-197 abbr denotes MFS
AE1_21976953_2_0 SS1_21976953_2_0 SS2_21976953_2_0 abbreviatedTo fibrillin-1 gene,FBN1
AE1_21976953_2_1 SS1_21976953_2_1 SS2_21976953_2_1 abbreviatedTo Marfan syndrome,MFS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
21976953-0#26#30#gene2200 26-30 gene2200 denotes FBN1
21976953-0#70#85#diseaseC0024796 70-85 diseaseC0024796 denotes Marfan syndrome
26#30#gene220070#85#diseaseC0024796 21976953-0#26#30#gene2200 21976953-0#70#85#diseaseC0024796 associated_with FBN1,Marfan syndrome

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1018-1027 DNAMutation:c|SUB|T|3703|C denotes c.3703T>C
T2 1154-1162 ProteinMutation:p|SUB|S|1235|P denotes p.S1235P
T3 1540-1548 ProteinMutation:p|SUB|S|1235|P denotes p.S1235P