
PubMed:28584052
Annnotations
GlyCosmos6-Glycan-Motif-Image
Id | Subject | Object | Predicate | Lexical cue | image |
---|---|---|---|---|---|
T1 | 13-32 | Glycan_Motif | denotes | N-acetylglucosamine | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP |
T2 | 34-42 | Glycan_Motif | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G89565QL|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G49108TO |
T4 | 107-126 | Glycan_Motif | denotes | N-Acetylglucosamine | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP |
T5 | 128-136 | Glycan_Motif | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G89565QL|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G49108TO |
T7 | 253-261 | Glycan_Motif | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G89565QL|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G49108TO |
T9 | 1130-1138 | Glycan_Motif | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G89565QL|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G49108TO |
T11 | 1787-1795 | Glycan_Motif | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G89565QL|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G49108TO |
LitCoin-entities-OrganismTaxon-PD
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 629-635 | OrganismTaxon | denotes | humans | NCBItxid:9605 |
LitCoin-sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-106 | Sentence | denotes | Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. |
T2 | 107-248 | Sentence | denotes | N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification. |
T3 | 249-423 | Sentence | denotes | The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and gene expression. |
T4 | 424-549 | Sentence | denotes | Accordingly, altered levels of protein O-GlcNAcylation have been associated with developmental defects and neurodegeneration. |
T5 | 550-636 | Sentence | denotes | However, mutations in the OGT gene have not yet been functionally confirmed in humans. |
T6 | 637-868 | Sentence | denotes | Here, we report on two hemizygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463-6T>G). |
T7 | 869-976 | Sentence | denotes | Both mutations reside in the tetratricopeptide repeats of OGT that are essential for substrate recognition. |
T8 | 977-1172 | Sentence | denotes | We observed slightly reduced levels of OGT protein and reduced levels of its opposing enzyme O-GlcNAcase in both patient-derived fibroblasts, but global O-GlcNAc levels appeared to be unaffected. |
T9 | 1173-1293 | Sentence | denotes | Our data suggest that mutant cells attempt to maintain global O-GlcNAcylation by down-regulating O-GlcNAcase expression. |
T10 | 1294-1464 | Sentence | denotes | We also found that the c.463-6T>G mutation leads to aberrant mRNA splicing, but no stable truncated protein was detected in the corresponding patient-derived fibroblasts. |
T11 | 1465-1758 | Sentence | denotes | Recombinant OGT bearing the p.Arg284Pro mutation was prone to unfolding and exhibited reduced glycosylation activity against a complex array of glycosylation substrates and proteolytic processing of the transcription factor host cell factor 1, which is also encoded by an XLID-associated gene. |
T12 | 1759-1913 | Sentence | denotes | We conclude that defects in O-GlcNAc homeostasis and host cell factor 1 proteolysis may play roles in mediation of XLID in individuals with OGT mutations. |
LitCoin-entities
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
13047 | 13-55 | GeneOrGeneProduct | denotes | N-acetylglucosamine (O-GlcNAc) transferase | NCBIGene:8473 |
13048 | 59-67 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
13049 | 73-105 | DiseaseOrPhenotypicFeature | denotes | X-linked intellectual disability | MESH:D038901 |
13050 | 107-149 | GeneOrGeneProduct | denotes | N-Acetylglucosamine (O-GlcNAc) transferase | NCBIGene:8473 |
13051 | 151-154 | GeneOrGeneProduct | denotes | OGT | NCBIGene:8473 |
13052 | 174-189 | GeneOrGeneProduct | denotes | O-GlcNAcylation | NCBIGene:8473 |
13053 | 253-261 | GeneOrGeneProduct | denotes | O-GlcNAc | NCBIGene:8473 |
13054 | 463-478 | GeneOrGeneProduct | denotes | O-GlcNAcylation | NCBIGene:8473 |
13055 | 505-526 | DiseaseOrPhenotypicFeature | denotes | developmental defects | MESH:D003147 |
13056 | 531-548 | DiseaseOrPhenotypicFeature | denotes | neurodegeneration | MESH:D019636 |
13057 | 576-579 | GeneOrGeneProduct | denotes | OGT | NCBIGene:8473 |
13058 | 629-635 | OrganismTaxon | denotes | humans | NCBITaxon:9606 |
13059 | 684-687 | GeneOrGeneProduct | denotes | OGT | NCBIGene:8473 |
13060 | 708-740 | DiseaseOrPhenotypicFeature | denotes | X-linked intellectual disability | MESH:D038901 |
13061 | 742-746 | DiseaseOrPhenotypicFeature | denotes | XLID | MESH:D038901 |
13062 | 796-807 | SequenceVariant | denotes | p.Arg284Pro | DBSNP:rs1114167891 |
13063 | 856-866 | SequenceVariant | denotes | c.463-6T>G | c|SUB|T463-6|G |
13064 | 927-930 | GeneOrGeneProduct | denotes | OGT | NCBIGene:8473 |
13065 | 1016-1019 | GeneOrGeneProduct | denotes | OGT | NCBIGene:8473 |
13066 | 1070-1081 | GeneOrGeneProduct | denotes | O-GlcNAcase | NCBIGene:10724 |
13067 | 1090-1097 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
13068 | 1130-1138 | GeneOrGeneProduct | denotes | O-GlcNAc | NCBIGene:8473 |
13069 | 1235-1250 | GeneOrGeneProduct | denotes | O-GlcNAcylation | NCBIGene:8473 |
13070 | 1270-1281 | GeneOrGeneProduct | denotes | O-GlcNAcase | NCBIGene:10724 |
13071 | 1317-1327 | SequenceVariant | denotes | c.463-6T>G | c|SUB|T463-6|G |
13072 | 1436-1443 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
13073 | 1477-1480 | GeneOrGeneProduct | denotes | OGT | NCBIGene:8473 |
13074 | 1493-1504 | SequenceVariant | denotes | p.Arg284Pro | DBSNP:rs1114167891 |
13075 | 1689-1707 | GeneOrGeneProduct | denotes | host cell factor 1 | NCBIGene:3054 |
13076 | 1737-1741 | DiseaseOrPhenotypicFeature | denotes | XLID | MESH:D038901 |
13077 | 1787-1795 | GeneOrGeneProduct | denotes | O-GlcNAc | NCBIGene:8473 |
13078 | 1812-1830 | GeneOrGeneProduct | denotes | host cell factor 1 | NCBIGene:3054 |
13079 | 1874-1878 | DiseaseOrPhenotypicFeature | denotes | XLID | MESH:D038901 |
13080 | 1899-1902 | GeneOrGeneProduct | denotes | OGT | NCBIGene:8473 |
LitCoin_Mondo
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 73-105 | DiseaseOrPhenotypicFeature | denotes | X-linked intellectual disability | 0100284 |
T2 | 82-105 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | 0001071 |
T3 | 708-740 | DiseaseOrPhenotypicFeature | denotes | X-linked intellectual disability | 0100284 |
T4 | 717-740 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | 0001071 |
LitCoin-SeqVar
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 796-807 | SequenceVariant | denotes | p.Arg284Pro |
T2 | 856-866 | SequenceVariant | denotes | c.463-6T>G |
T3 | 1317-1327 | SequenceVariant | denotes | c.463-6T>G |
T4 | 1493-1504 | SequenceVariant | denotes | p.Arg284Pro |
LitCoin-GeneOrGeneProduct-v0
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-9 | GeneOrGeneProduct | denotes | Mutations |
T2 | 36-42 | GeneOrGeneProduct | denotes | GlcNAc |
T3 | 44-55 | GeneOrGeneProduct | denotes | transferase |
T4 | 73-81 | GeneOrGeneProduct | denotes | X-linked |
T5 | 95-105 | GeneOrGeneProduct | denotes | disability |
T6 | 130-136 | GeneOrGeneProduct | denotes | GlcNAc |
T7 | 138-149 | GeneOrGeneProduct | denotes | transferase |
T8 | 166-173 | GeneOrGeneProduct | denotes | protein |
T9 | 216-220 | GeneOrGeneProduct | denotes | post |
T10 | 255-261 | GeneOrGeneProduct | denotes | GlcNAc |
T11 | 310-319 | GeneOrGeneProduct | denotes | cytosolic |
T12 | 320-328 | GeneOrGeneProduct | denotes | proteins |
T13 | 455-462 | GeneOrGeneProduct | denotes | protein |
T14 | 519-526 | GeneOrGeneProduct | denotes | defects |
T15 | 559-568 | GeneOrGeneProduct | denotes | mutations |
T16 | 671-680 | GeneOrGeneProduct | denotes | mutations |
T17 | 708-716 | GeneOrGeneProduct | denotes | X-linked |
T18 | 730-740 | GeneOrGeneProduct | denotes | disability |
T19 | 777-785 | GeneOrGeneProduct | denotes | missense |
T20 | 786-794 | GeneOrGeneProduct | denotes | mutation |
T21 | 817-825 | GeneOrGeneProduct | denotes | mutation |
T22 | 839-847 | GeneOrGeneProduct | denotes | splicing |
T23 | 848-854 | GeneOrGeneProduct | denotes | defect |
T24 | 874-883 | GeneOrGeneProduct | denotes | mutations |
T25 | 898-915 | GeneOrGeneProduct | denotes | tetratricopeptide |
T26 | 989-997 | GeneOrGeneProduct | denotes | slightly |
T27 | 998-1005 | GeneOrGeneProduct | denotes | reduced |
T28 | 1020-1027 | GeneOrGeneProduct | denotes | protein |
T29 | 1032-1039 | GeneOrGeneProduct | denotes | reduced |
T30 | 1063-1069 | GeneOrGeneProduct | denotes | enzyme |
T31 | 1070-1081 | GeneOrGeneProduct | denotes | O-GlcNAcase |
T32 | 1132-1138 | GeneOrGeneProduct | denotes | GlcNAc |
T33 | 1195-1201 | GeneOrGeneProduct | denotes | mutant |
T34 | 1202-1207 | GeneOrGeneProduct | denotes | cells |
T35 | 1259-1269 | GeneOrGeneProduct | denotes | regulating |
T36 | 1270-1281 | GeneOrGeneProduct | denotes | O-GlcNAcase |
T37 | 1328-1336 | GeneOrGeneProduct | denotes | mutation |
T38 | 1355-1359 | GeneOrGeneProduct | denotes | mRNA |
T39 | 1360-1368 | GeneOrGeneProduct | denotes | splicing |
T40 | 1384-1393 | GeneOrGeneProduct | denotes | truncated |
T41 | 1394-1401 | GeneOrGeneProduct | denotes | protein |
T42 | 1465-1476 | GeneOrGeneProduct | denotes | Recombinant |
T43 | 1505-1513 | GeneOrGeneProduct | denotes | mutation |
T44 | 1527-1536 | GeneOrGeneProduct | denotes | unfolding |
T45 | 1551-1558 | GeneOrGeneProduct | denotes | reduced |
T46 | 1573-1581 | GeneOrGeneProduct | denotes | activity |
T47 | 1650-1660 | GeneOrGeneProduct | denotes | processing |
T48 | 1668-1688 | GeneOrGeneProduct | denotes | transcription factor |
T49 | 1689-1707 | GeneOrGeneProduct | denotes | host cell factor 1 |
T50 | 1776-1783 | GeneOrGeneProduct | denotes | defects |
T51 | 1789-1795 | GeneOrGeneProduct | denotes | GlcNAc |
T52 | 1812-1830 | GeneOrGeneProduct | denotes | host cell factor 1 |
T53 | 1861-1870 | GeneOrGeneProduct | denotes | mediation |
T54 | 1903-1912 | GeneOrGeneProduct | denotes | mutations |
LitCoin-GeneOrGeneProduct-v2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 36-42 | GeneOrGeneProduct | denotes | GlcNAc |
T2 | 44-55 | GeneOrGeneProduct | denotes | transferase |
T3 | 73-81 | GeneOrGeneProduct | denotes | X-linked |
T4 | 130-136 | GeneOrGeneProduct | denotes | GlcNAc |
T5 | 138-149 | GeneOrGeneProduct | denotes | transferase |
T6 | 166-173 | GeneOrGeneProduct | denotes | protein |
T7 | 216-220 | GeneOrGeneProduct | denotes | post |
T8 | 255-261 | GeneOrGeneProduct | denotes | GlcNAc |
T9 | 310-319 | GeneOrGeneProduct | denotes | cytosolic |
T10 | 455-462 | GeneOrGeneProduct | denotes | protein |
T11 | 708-716 | GeneOrGeneProduct | denotes | X-linked |
T12 | 898-915 | GeneOrGeneProduct | denotes | tetratricopeptide |
T13 | 998-1005 | GeneOrGeneProduct | denotes | reduced |
T14 | 1020-1027 | GeneOrGeneProduct | denotes | protein |
T15 | 1032-1039 | GeneOrGeneProduct | denotes | reduced |
T16 | 1063-1069 | GeneOrGeneProduct | denotes | enzyme |
T17 | 1070-1081 | GeneOrGeneProduct | denotes | O-GlcNAcase |
T18 | 1132-1138 | GeneOrGeneProduct | denotes | GlcNAc |
T19 | 1195-1201 | GeneOrGeneProduct | denotes | mutant |
T20 | 1270-1281 | GeneOrGeneProduct | denotes | O-GlcNAcase |
T21 | 1355-1359 | GeneOrGeneProduct | denotes | mRNA |
T22 | 1384-1393 | GeneOrGeneProduct | denotes | truncated |
T23 | 1394-1401 | GeneOrGeneProduct | denotes | protein |
T24 | 1551-1558 | GeneOrGeneProduct | denotes | reduced |
T25 | 1650-1660 | GeneOrGeneProduct | denotes | processing |
T26 | 1668-1688 | GeneOrGeneProduct | denotes | transcription factor |
T27 | 1689-1707 | GeneOrGeneProduct | denotes | host cell factor 1 |
T28 | 1789-1795 | GeneOrGeneProduct | denotes | GlcNAc |
T29 | 1812-1830 | GeneOrGeneProduct | denotes | host cell factor 1 |
LitCoin-Disease-MeSH
Id | Subject | Object | Predicate | Lexical cue | originalLabel |
---|---|---|---|---|---|
T1 | 82-105 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | D008607 |
T2 | 531-548 | DiseaseOrPhenotypicFeature | denotes | neurodegeneration | DISEASE |
T3 | 717-740 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | D008607 |
LitCoin-GeneOrGeneProduct-v3
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 44-55 | GeneOrGeneProduct | denotes | transferase |
T2 | 138-149 | GeneOrGeneProduct | denotes | transferase |
T3 | 156-173 | GeneOrGeneProduct | denotes | regulates protein |
T4 | 310-328 | GeneOrGeneProduct | denotes | cytosolic proteins |
T5 | 898-915 | GeneOrGeneProduct | denotes | tetratricopeptide |
T6 | 1070-1081 | GeneOrGeneProduct | denotes | O-GlcNAcase |
T7 | 1270-1281 | GeneOrGeneProduct | denotes | O-GlcNAcase |
T8 | 1668-1688 | GeneOrGeneProduct | denotes | transcription factor |
T9 | 1689-1707 | GeneOrGeneProduct | denotes | host cell factor 1 |
T10 | 1812-1830 | GeneOrGeneProduct | denotes | host cell factor 1 |
LitCoin_Mondo_095
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 73-105 | DiseaseOrPhenotypicFeature | denotes | X-linked intellectual disability | 0100284 |
T2 | 708-740 | DiseaseOrPhenotypicFeature | denotes | X-linked intellectual disability | 0100284 |
T3 | 742-746 | DiseaseOrPhenotypicFeature | denotes | XLID | 0100284 |
T4 | 848-854 | DiseaseOrPhenotypicFeature | denotes | defect | 0008568 |
T5 | 1737-1741 | DiseaseOrPhenotypicFeature | denotes | XLID | 0100284 |
T6 | 1874-1878 | DiseaseOrPhenotypicFeature | denotes | XLID | 0100284 |
LitCoin-MeSH-Disease-2
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 82-105 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | D008607 |
T2 | 505-526 | DiseaseOrPhenotypicFeature | denotes | developmental defects | DISEASE |
T3 | 531-548 | DiseaseOrPhenotypicFeature | denotes | neurodegeneration | DISEASE |
T4 | 717-740 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | D008607 |
T5 | 742-746 | DiseaseOrPhenotypicFeature | denotes | XLID | DISEASE |
T6 | 1737-1741 | DiseaseOrPhenotypicFeature | denotes | XLID | DISEASE |
T7 | 1874-1878 | DiseaseOrPhenotypicFeature | denotes | XLID | DISEASE |
LitCoin-MONDO_bioort2019
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T1 | 82-105 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | D008607 |
T2 | 505-526 | DiseaseOrPhenotypicFeature | denotes | developmental defects | DISEASE |
T3 | 531-548 | DiseaseOrPhenotypicFeature | denotes | neurodegeneration | DISEASE |
T4 | 717-740 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | D008607 |
T5 | 742-746 | DiseaseOrPhenotypicFeature | denotes | XLID | DISEASE |
T6 | 1737-1741 | DiseaseOrPhenotypicFeature | denotes | XLID | DISEASE |
T7 | 1874-1878 | DiseaseOrPhenotypicFeature | denotes | XLID | DISEASE |
LitCoin-NCBITaxon-2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 59-67 | OrganismTaxon | denotes | patients |
T2 | 629-635 | OrganismTaxon | denotes | humans |
T3 | 1090-1097 | OrganismTaxon | denotes | patient |
T4 | 1436-1443 | OrganismTaxon | denotes | patient |
LitCoin-Chemical-MeSH-CHEBI
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 13-32 | ChemicalEntity | denotes | N-acetylglucosamine | http://purl.obolibrary.org/obo/CHEBI_59640|http://purl.obolibrary.org/obo/CHEBI_28009 |
T3 | 33-55 | ChemicalEntity | denotes | (O-GlcNAc) transferase | C449880 |
T4 | 107-126 | ChemicalEntity | denotes | N-Acetylglucosamine | http://purl.obolibrary.org/obo/CHEBI_59640 |
T5 | 109-126 | ChemicalEntity | denotes | Acetylglucosamine | http://purl.obolibrary.org/obo/CHEBI_28009 |
T6 | 127-149 | ChemicalEntity | denotes | (O-GlcNAc) transferase | C449880 |
T7 | 255-261 | ChemicalEntity | denotes | GlcNAc | http://purl.obolibrary.org/obo/CHEBI_73685|http://purl.obolibrary.org/obo/CHEBI_506227 |
T9 | 1070-1081 | ChemicalEntity | denotes | O-GlcNAcase | C110628 |
T10 | 1132-1138 | ChemicalEntity | denotes | GlcNAc | http://purl.obolibrary.org/obo/CHEBI_73685|http://purl.obolibrary.org/obo/CHEBI_506227 |
T12 | 1270-1281 | ChemicalEntity | denotes | O-GlcNAcase | C110628 |
T13 | 1789-1795 | ChemicalEntity | denotes | GlcNAc | http://purl.obolibrary.org/obo/CHEBI_73685|http://purl.obolibrary.org/obo/CHEBI_506227 |
LitCoin-training-merged
Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
---|---|---|---|---|---|---|
T13 | 1789-1795 | ChemicalEntity | denotes | GlcNAc | http://purl.obolibrary.org/obo/CHEBI_506227|http://purl.obolibrary.org/obo/CHEBI_73685 | |
T12 | 1270-1281 | ChemicalEntity | denotes | O-GlcNAcase | C110628 | |
T10 | 1132-1138 | ChemicalEntity | denotes | GlcNAc | http://purl.obolibrary.org/obo/CHEBI_506227|http://purl.obolibrary.org/obo/CHEBI_73685 | |
T9 | 1070-1081 | ChemicalEntity | denotes | O-GlcNAcase | C110628 | |
T7 | 255-261 | ChemicalEntity | denotes | GlcNAc | http://purl.obolibrary.org/obo/CHEBI_506227|http://purl.obolibrary.org/obo/CHEBI_73685 | |
T6 | 127-149 | ChemicalEntity | denotes | (O-GlcNAc) transferase | C449880 | |
T5 | 109-126 | ChemicalEntity | denotes | Acetylglucosamine | http://purl.obolibrary.org/obo/CHEBI_28009 | |
T4 | 107-126 | ChemicalEntity | denotes | N-Acetylglucosamine | http://purl.obolibrary.org/obo/CHEBI_59640 | |
T3 | 33-55 | ChemicalEntity | denotes | (O-GlcNAc) transferase | C449880 | |
T1 | 13-32 | ChemicalEntity | denotes | N-acetylglucosamine | http://purl.obolibrary.org/obo/CHEBI_28009|http://purl.obolibrary.org/obo/CHEBI_59640 | |
T63529 | 1812-1830 | GeneOrGeneProduct | denotes | host cell factor 1 | ||
T73459 | 1689-1707 | GeneOrGeneProduct | denotes | host cell factor 1 | ||
T8 | 1668-1688 | GeneOrGeneProduct | denotes | transcription factor | ||
T86595 | 1270-1281 | GeneOrGeneProduct | denotes | O-GlcNAcase | ||
T57584 | 1070-1081 | GeneOrGeneProduct | denotes | O-GlcNAcase | ||
T96319 | 898-915 | GeneOrGeneProduct | denotes | tetratricopeptide | ||
T36257 | 310-328 | GeneOrGeneProduct | denotes | cytosolic proteins | ||
T64446 | 156-173 | GeneOrGeneProduct | denotes | regulates protein | ||
T2 | 138-149 | GeneOrGeneProduct | denotes | transferase | ||
T73273 | 44-55 | GeneOrGeneProduct | denotes | transferase | ||
T29918 | 1874-1878 | DiseaseOrPhenotypicFeature | denotes | XLID | DISEASE | |
T78269 | 1737-1741 | DiseaseOrPhenotypicFeature | denotes | XLID | DISEASE | |
T64172 | 742-746 | DiseaseOrPhenotypicFeature | denotes | XLID | DISEASE | |
T65871 | 717-740 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | D008607 | |
T48067 | 531-548 | DiseaseOrPhenotypicFeature | denotes | neurodegeneration | DISEASE | |
T49111 | 505-526 | DiseaseOrPhenotypicFeature | denotes | developmental defects | DISEASE | |
T24509 | 82-105 | DiseaseOrPhenotypicFeature | denotes | intellectual disability | D008607 | |
T86704 | 1436-1443 | OrganismTaxon | denotes | patient | ||
T47099 | 1090-1097 | OrganismTaxon | denotes | patient | ||
T40375 | 629-635 | OrganismTaxon | denotes | humans | ||
T75412 | 59-67 | OrganismTaxon | denotes | patients | ||
T27185 | 1493-1504 | SequenceVariant | denotes | p.Arg284Pro | ||
T23405 | 1317-1327 | SequenceVariant | denotes | c.463-6T>G | ||
T69999 | 856-866 | SequenceVariant | denotes | c.463-6T>G | ||
T19525 | 796-807 | SequenceVariant | denotes | p.Arg284Pro |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-106 | Sentence | denotes | Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. |
T2 | 107-248 | Sentence | denotes | N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification. |
T3 | 249-423 | Sentence | denotes | The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and gene expression. |
T4 | 424-549 | Sentence | denotes | Accordingly, altered levels of protein O-GlcNAcylation have been associated with developmental defects and neurodegeneration. |
T5 | 550-636 | Sentence | denotes | However, mutations in the OGT gene have not yet been functionally confirmed in humans. |
T6 | 637-868 | Sentence | denotes | Here, we report on two hemizygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463-6T>G). |
T7 | 869-976 | Sentence | denotes | Both mutations reside in the tetratricopeptide repeats of OGT that are essential for substrate recognition. |
T8 | 977-1172 | Sentence | denotes | We observed slightly reduced levels of OGT protein and reduced levels of its opposing enzyme O-GlcNAcase in both patient-derived fibroblasts, but global O-GlcNAc levels appeared to be unaffected. |
T9 | 1173-1293 | Sentence | denotes | Our data suggest that mutant cells attempt to maintain global O-GlcNAcylation by down-regulating O-GlcNAcase expression. |
T10 | 1294-1464 | Sentence | denotes | We also found that the c.463-6T>G mutation leads to aberrant mRNA splicing, but no stable truncated protein was detected in the corresponding patient-derived fibroblasts. |
T11 | 1465-1758 | Sentence | denotes | Recombinant OGT bearing the p.Arg284Pro mutation was prone to unfolding and exhibited reduced glycosylation activity against a complex array of glycosylation substrates and proteolytic processing of the transcription factor host cell factor 1, which is also encoded by an XLID-associated gene. |
T12 | 1759-1913 | Sentence | denotes | We conclude that defects in O-GlcNAc homeostasis and host cell factor 1 proteolysis may play roles in mediation of XLID in individuals with OGT mutations. |
GlyCosmos6-Glycan-Motif-Structure
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 13-32 | https://glytoucan.org/Structures/Glycans/G64581RP | denotes | N-acetylglucosamine |
T2 | 34-42 | https://glytoucan.org/Structures/Glycans/G49108TO | denotes | O-GlcNAc |
T3 | 34-42 | https://glytoucan.org/Structures/Glycans/G89565QL | denotes | O-GlcNAc |
T4 | 107-126 | https://glytoucan.org/Structures/Glycans/G64581RP | denotes | N-Acetylglucosamine |
T5 | 128-136 | https://glytoucan.org/Structures/Glycans/G49108TO | denotes | O-GlcNAc |
T6 | 128-136 | https://glytoucan.org/Structures/Glycans/G89565QL | denotes | O-GlcNAc |
T7 | 253-261 | https://glytoucan.org/Structures/Glycans/G49108TO | denotes | O-GlcNAc |
T8 | 253-261 | https://glytoucan.org/Structures/Glycans/G89565QL | denotes | O-GlcNAc |
T9 | 1130-1138 | https://glytoucan.org/Structures/Glycans/G49108TO | denotes | O-GlcNAc |
T10 | 1130-1138 | https://glytoucan.org/Structures/Glycans/G89565QL | denotes | O-GlcNAc |
T11 | 1787-1795 | https://glytoucan.org/Structures/Glycans/G49108TO | denotes | O-GlcNAc |
T12 | 1787-1795 | https://glytoucan.org/Structures/Glycans/G89565QL | denotes | O-GlcNAc |
Glycosmos6-GlycoEpitope
Id | Subject | Object | Predicate | Lexical cue | glyco_epitope_db_id |
---|---|---|---|---|---|
T1 | 34-42 | GlycoEpitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T2 | 128-136 | GlycoEpitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T3 | 253-261 | GlycoEpitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T4 | 1130-1138 | GlycoEpitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T5 | 1787-1795 | GlycoEpitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
NGLY1-deficiency
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
PD-NGLY1-deficiency-B_T1 | 13-32 | chem:24139 | denotes | N-acetylglucosamine |
PD-NGLY1-deficiency-B_T2 | 36-42 | chem:24139 | denotes | GlcNAc |
PD-NGLY1-deficiency-B_T3 | 109-126 | chem:24139 | denotes | Acetylglucosamine |
PD-NGLY1-deficiency-B_T4 | 130-136 | chem:24139 | denotes | GlcNAc |
PD-NGLY1-deficiency-B_T5 | 255-261 | chem:24139 | denotes | GlcNAc |
PD-NGLY1-deficiency-B_T6 | 1132-1138 | chem:24139 | denotes | GlcNAc |
PD-NGLY1-deficiency-B_T7 | 1789-1795 | chem:24139 | denotes | GlcNAc |
HP-phenotype
Id | Subject | Object | Predicate | Lexical cue | hp_id |
---|---|---|---|---|---|
T1 | 82-105 | Phenotype | denotes | intellectual disability | HP:0001249 |
T2 | 531-548 | Phenotype | denotes | neurodegeneration | HP:0002180 |
T3 | 717-740 | Phenotype | denotes | intellectual disability | HP:0001249 |
mondo_disease
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 82-105 | Disease | denotes | intellectual disability | http://purl.obolibrary.org/obo/MONDO_0001071 |
T2 | 717-740 | Disease | denotes | intellectual disability | http://purl.obolibrary.org/obo/MONDO_0001071 |
Glycan-GlyCosmos
Id | Subject | Object | Predicate | Lexical cue | image |
---|---|---|---|---|---|
T1 | 34-42 | Glycan | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO |
T2 | 128-136 | Glycan | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO |
T3 | 253-261 | Glycan | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO |
T4 | 1130-1138 | Glycan | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO |
T5 | 1787-1795 | Glycan | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO |
GlyCosmos-GlycoEpitope
Id | Subject | Object | Predicate | Lexical cue | glycoepitope_id |
---|---|---|---|---|---|
T1 | 34-42 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T2 | 128-136 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T3 | 253-261 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T4 | 1130-1138 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T5 | 1787-1795 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
GlyCosmos15-HP
Id | Subject | Object | Predicate | Lexical cue | hp_id |
---|---|---|---|---|---|
T1 | 82-105 | Phenotype | denotes | intellectual disability | HP:0001249 |
T2 | 531-548 | Phenotype | denotes | neurodegeneration | HP:0002180 |
T3 | 717-740 | Phenotype | denotes | intellectual disability | HP:0001249 |
GlyCosmos15-CL
Id | Subject | Object | Predicate | Lexical cue | cl_id |
---|---|---|---|---|---|
T1 | 1106-1117 | Cell | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL:0000057 |
T2 | 1452-1463 | Cell | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL:0000057 |
GlyCosmos15-UBERON
Id | Subject | Object | Predicate | Lexical cue | uberon_id |
---|---|---|---|---|---|
T1 | 1106-1117 | Body_part | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL_0000057 |
T2 | 1452-1463 | Body_part | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL_0000057 |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-106 | Sentence | denotes | Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. |
T2 | 107-248 | Sentence | denotes | N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification. |
T3 | 249-423 | Sentence | denotes | The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and gene expression. |
T4 | 424-549 | Sentence | denotes | Accordingly, altered levels of protein O-GlcNAcylation have been associated with developmental defects and neurodegeneration. |
T5 | 550-636 | Sentence | denotes | However, mutations in the OGT gene have not yet been functionally confirmed in humans. |
T6 | 637-868 | Sentence | denotes | Here, we report on two hemizygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463-6T>G). |
T7 | 869-976 | Sentence | denotes | Both mutations reside in the tetratricopeptide repeats of OGT that are essential for substrate recognition. |
T8 | 977-1172 | Sentence | denotes | We observed slightly reduced levels of OGT protein and reduced levels of its opposing enzyme O-GlcNAcase in both patient-derived fibroblasts, but global O-GlcNAc levels appeared to be unaffected. |
T9 | 1173-1293 | Sentence | denotes | Our data suggest that mutant cells attempt to maintain global O-GlcNAcylation by down-regulating O-GlcNAcase expression. |
T10 | 1294-1464 | Sentence | denotes | We also found that the c.463-6T>G mutation leads to aberrant mRNA splicing, but no stable truncated protein was detected in the corresponding patient-derived fibroblasts. |
T11 | 1465-1758 | Sentence | denotes | Recombinant OGT bearing the p.Arg284Pro mutation was prone to unfolding and exhibited reduced glycosylation activity against a complex array of glycosylation substrates and proteolytic processing of the transcription factor host cell factor 1, which is also encoded by an XLID-associated gene. |
T12 | 1759-1913 | Sentence | denotes | We conclude that defects in O-GlcNAc homeostasis and host cell factor 1 proteolysis may play roles in mediation of XLID in individuals with OGT mutations. |
GlyCosmos15-Sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-106 | Sentence | denotes | Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability. |
T2 | 107-248 | Sentence | denotes | N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification. |
T3 | 249-423 | Sentence | denotes | The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and gene expression. |
T4 | 424-549 | Sentence | denotes | Accordingly, altered levels of protein O-GlcNAcylation have been associated with developmental defects and neurodegeneration. |
T5 | 550-636 | Sentence | denotes | However, mutations in the OGT gene have not yet been functionally confirmed in humans. |
T6 | 637-868 | Sentence | denotes | Here, we report on two hemizygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463-6T>G). |
T7 | 869-976 | Sentence | denotes | Both mutations reside in the tetratricopeptide repeats of OGT that are essential for substrate recognition. |
T8 | 977-1172 | Sentence | denotes | We observed slightly reduced levels of OGT protein and reduced levels of its opposing enzyme O-GlcNAcase in both patient-derived fibroblasts, but global O-GlcNAc levels appeared to be unaffected. |
T9 | 1173-1293 | Sentence | denotes | Our data suggest that mutant cells attempt to maintain global O-GlcNAcylation by down-regulating O-GlcNAcase expression. |
T10 | 1294-1464 | Sentence | denotes | We also found that the c.463-6T>G mutation leads to aberrant mRNA splicing, but no stable truncated protein was detected in the corresponding patient-derived fibroblasts. |
T11 | 1465-1758 | Sentence | denotes | Recombinant OGT bearing the p.Arg284Pro mutation was prone to unfolding and exhibited reduced glycosylation activity against a complex array of glycosylation substrates and proteolytic processing of the transcription factor host cell factor 1, which is also encoded by an XLID-associated gene. |
T12 | 1759-1913 | Sentence | denotes | We conclude that defects in O-GlcNAc homeostasis and host cell factor 1 proteolysis may play roles in mediation of XLID in individuals with OGT mutations. |
GlyCosmos15-GlycoEpitope
Id | Subject | Object | Predicate | Lexical cue | glycoepitope_id |
---|---|---|---|---|---|
T1 | 34-42 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T2 | 128-136 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T3 | 253-261 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T4 | 1130-1138 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
T5 | 1787-1795 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | O-GlcNAc | http://www.glycoepitope.jp/epitopes/EP0004 |
GlyCosmos15-Glycan
Id | Subject | Object | Predicate | Lexical cue | image |
---|---|---|---|---|---|
T1 | 34-42 | Glycan | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO |
T2 | 128-136 | Glycan | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO |
T3 | 253-261 | Glycan | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO |
T4 | 1130-1138 | Glycan | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO |
T5 | 1787-1795 | Glycan | denotes | O-GlcNAc | https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO |
GlyCosmos15-MONDO
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 73-105 | Disease | denotes | X-linked intellectual disability | MONDO:0100284 |
T2 | 708-740 | Disease | denotes | X-linked intellectual disability | MONDO:0100284 |
T3 | 742-746 | Disease | denotes | XLID | MONDO:0100284 |
T4 | 1737-1741 | Disease | denotes | XLID | MONDO:0100284 |
T5 | 1874-1878 | Disease | denotes | XLID | MONDO:0100284 |
GlyCosmos15-NCBITAXON
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 1090-1097 | OrganismTaxon | denotes | patient | 9606 |
T2 | 1436-1443 | OrganismTaxon | denotes | patient | 9606 |
GlyCosmos15-FMA
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 310-319 | Body_part | denotes | cytosolic | FMA:66836 |
T2 | 1106-1117 | Body_part | denotes | fibroblasts | FMA:63877 |
T3 | 1452-1463 | Body_part | denotes | fibroblasts | FMA:63877 |
NCBITAXON
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 1090-1097 | OrganismTaxon | denotes | patient | 9606 |
T2 | 1436-1443 | OrganismTaxon | denotes | patient | 9606 |
Anatomy-UBERON
Id | Subject | Object | Predicate | Lexical cue | uberon_id |
---|---|---|---|---|---|
T1 | 1106-1117 | Body_part | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL_0000057 |
T2 | 1452-1463 | Body_part | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL_0000057 |
CL-cell
Id | Subject | Object | Predicate | Lexical cue | cl_id |
---|---|---|---|---|---|
T1 | 1106-1117 | Cell | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL:0000057 |
T2 | 1452-1463 | Cell | denotes | fibroblasts | http://purl.obolibrary.org/obo/CL:0000057 |