{ "uniprot_canonical_ac": "P07437-1", "uniprot_ac": "P07437", "uniprot_id": "TBB5_HUMAN", "mass": { "chemical_mass": 49671.0, "monoisotopic_mass": 49671.0 }, "refseq": { "ac": "NP_001280141", "name": "tubulin beta chain isoform a", "summary": "This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280141" }, "gene_names": [ { "name": "TUBB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07437", "id": "P07437" }, { "name": "CDCBM6; CSCSC1; M40; OK/SW-cl.56; TUBB1; TUBB5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280141", "id": "NP_001280141" }, { "name": "SW-cl.56", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07437", "id": "P07437" }, { "name": "TUBB5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07437", "id": "P07437" }, { "name": "TUBB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280141", "id": "NP_001280141" } ], "protein_names": [ { "name": "Tubulin beta chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07437" }, { "name": "Tubulin beta-5 chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07437" }, { "name": "beta Ib tubulin; tubulin, beta polypeptide; tubulin beta-1 chain; tubulin beta-5 chain; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280141", "id": "NP_001280141" }, { "name": "tubulin beta chain isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280141", "id": "NP_001280141" } ], "function": [ { "annotation": "Competitive Microtubule Binding of PEX14 Coordinates Peroxisomal Protein Import and Motility.", "evidence": [ { "database": "RefSeq", "id": "NP_001280141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280141" }, { "database": "PubMed", "id": "33484719", "url": "https://glygen.org/publication/PubMed/33484719" } ] }, { "annotation": "Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001280141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280141" }, { "database": "PubMed", "id": "36928665", "url": "https://glygen.org/publication/PubMed/36928665" } ] }, { "annotation": "Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001280141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280141" }, { "database": "PubMed", "id": "34211110", "url": "https://glygen.org/publication/PubMed/34211110" } ] }, { "annotation": "This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001280141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280141" } ] }, { "annotation": "Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.", "evidence": [ { "database": "UniProtKB", "id": "P07437", "url": "https://www.uniprot.org/uniprot/P07437#function" }, { "database": "UniProtKB", "id": "Q5JP53", "url": "https://www.uniprot.org/uniprot/Q5JP53#function" }, { "database": "UniProtKB", "id": "RU000352", "url": "https://www.uniprot.org/uniprot/RU000352#function" }, { "database": "UniProtKB", "id": "Q5ST81", "url": "https://www.uniprot.org/uniprot/Q5ST81#function" } ] } ], "disease": [ { "disease_id": "DOID:0090136", "recommended_name": { "id": "DOID:0090136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090136", "name": "complex cortical dysplasia with other brain malformations 6", "description": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21." }, "synonyms": [ { "id": "DOID:0090136", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090136", "name": "CDCBM56", "description": "" }, { "id": "MONDO:0014341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014341", "name": "complex cortical dysplasia with other brain malformations 6", "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene." }, { "id": "MONDO:0014341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014341", "name": "CDCBM56", "description": "" }, { "id": "MONDO:0014341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014341", "name": "TUBB complex cortical dysplasia with other brain malformations", "description": "" }, { "id": "MONDO:0014341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014341", "name": "complex cortical dysplasia with other brain malformations caused by mutation in TUBB", "description": "" }, { "id": "MONDO:0014341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014341", "name": "complex cortical dysplasia with other brain malformations type 6", "description": "" }, { "id": "MONDO:0014341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014341", "name": "cortical dysplasia, Complex, with Other brain malformations type 6", "description": "" }, { "id": "MONDO:0014341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014341", "name": "CDCBM6", "description": "" }, { "id": "MONDO:0014341", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014341", "name": "cortical dysplasia, complex, with other brain malformations 6", "description": "" }, { "id": "MIM:615771", "resource": "MIM", "url": "https://www.omim.org/entry/615771", "name": "Cortical dysplasia, complex, with other brain malformations 6", "description": "Cortical dysplasia, complex, with other brain malformations 6" } ], "evidence": [ { "id": "615771", "database": "MIM", "url": "https://www.omim.org/entry/615771" } ] }, { "disease_id": "DOID:0112242", "recommended_name": { "id": "DOID:0112242", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112242", "name": "congenital symmetric circumferential skin creases 1", "description": "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33." }, "synonyms": [ { "id": "DOID:0112242", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112242", "name": "CSCSC1", "description": "" }, { "id": "MONDO:0020738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020738", "name": "multiple benign circumferential skin creases on limbs 1", "description": "" }, { "id": "MONDO:0020738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020738", "name": "symmetric circumferential skin creases, congenital, 1", "description": "" }, { "id": "MONDO:0020738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020738", "name": "CSCSC1", "description": "" }, { "id": "MONDO:0020738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020738", "name": "skin creases, congenital symmetric circumferential, 1", "description": "" }, { "id": "MIM:156610", "resource": "MIM", "url": "https://www.omim.org/entry/156610", "name": "Skin creases, congenital symmetric circumferential, 1", "description": "Skin creases, congenital symmetric circumferential, 1" } ], "evidence": [ { "id": "156610", "database": "MIM", "url": "https://www.omim.org/entry/156610" } ] } ], "snv": [ { "evidence": [ { "id": "rs754107120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754107120" }, { "id": "rs754107120", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754107120" }, { "id": "rs754107120", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754107120" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 274, "end_pos": 274, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "6", "chr_pos": "30723882", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2394397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2394397" }, { "id": "rs2394397", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2394397" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 382, "end_pos": 382, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "6", "chr_pos": "30724207", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S382", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1258561953", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1258561953" }, { "id": "rs1258561953", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1258561953" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 78, "end_pos": 78, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->*).", "chr_id": "6", "chr_pos": "30722984", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S78", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "97.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000196230", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196230" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07437", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07437" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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"id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", 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"url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07437", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07437" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P07437", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07437" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07437", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07437" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P07437", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07437" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P07437", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07437" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07437", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07437" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P07437", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07437" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P07437", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07437" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P07437", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07437" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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Classification" ] }, { "id": "IPR037103", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037103", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:203068", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:203068", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "156610", "url": "http://www.omim.org/entry/156610", "database": "MIM", "categories": [ "Other" ] }, { "id": "191130", "url": "http://www.omim.org/entry/191130", "database": "MIM", "categories": [ "Other" ] }, { "id": "615771", "url": "http://www.omim.org/entry/615771", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P07437", "url": "https://www.nextprot.org/entry/NX_P07437", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P07437", "url": "https://oglcnac.org/atlas/detail/P07437", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P07437", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07437", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "EVEACEC", "url": "https://omabrowser.org/oma/group/EVEACEC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3124041at2759", "url": "http://www.orthodb.org/?query=3124041at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11588", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11588", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11588:SF61", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11588:SF61", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "3QNZ", "url": "https://www.rcsb.org/structure/3QNZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3QO0", "url": "https://www.rcsb.org/structure/3QO0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5N5N", "url": "https://www.rcsb.org/structure/5N5N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6I2I", "url": "https://www.rcsb.org/structure/6I2I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QUS", "url": "https://www.rcsb.org/structure/6QUS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QUY", "url": "https://www.rcsb.org/structure/6QUY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QVE", "url": "https://www.rcsb.org/structure/6QVE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6QVJ", "url": "https://www.rcsb.org/structure/6QVJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TRG", "url": "https://www.rcsb.org/structure/7TRG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TTN", "url": "https://www.rcsb.org/structure/7TTN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TTT", "url": "https://www.rcsb.org/structure/7TTT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TUB", "url": "https://www.rcsb.org/structure/7TUB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7X0S", "url": "https://www.rcsb.org/structure/7X0S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8BPO", "url": "https://www.rcsb.org/structure/8BPO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00091", "url": "http://pfam.xfam.org/family/PF00091", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03953", "url": "http://pfam.xfam.org/family/PF03953", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P07437", "url": "https://pharos.nih.gov/targets/P07437", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P07437", "url": "http://purl.obolibrary.org/obo/PR_P07437", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380284", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380284", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9679191", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9679191", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001280141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280141", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P07437", "url": "https://www.uniprot.org/uniprot/P07437", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07437-1", "url": "https://www.uniprot.org/uniprot/P07437-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JP53", "url": "https://www.uniprot.org/uniprot/Q5JP53", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JP53-1", "url": "https://www.uniprot.org/uniprot/Q5JP53-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5ST81", "url": "https://www.uniprot.org/uniprot/Q5ST81", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5ST81-1", "url": "https://www.uniprot.org/uniprot/Q5ST81-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLDRISVYYNEATGGKYVPRAILVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQVFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRGLKMAVTFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDFGEEAEEEA", "length": 444, "header": "sp|P07437-1|TBB5_HUMAN Isoform 1 of Tubulin beta chain OS=Homo sapiens OX=9606 GN=TUBB PE=1 SV=2 CANONICAL=P07437-1" }, "isoforms": [ { "isoform_ac": "P07437-1", "url": "", "sequence": { "sequence": "MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLDRISVYYNEATGGKYVPRAILVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQVFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRGLKMAVTFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDFGEEAEEEA", "length": 444, "header": "sp|P07437-1|TBB5_HUMAN Isoform 1 of Tubulin beta chain OS=Homo sapiens OX=9606 GN=TUBB PE=1 SV=2 CANONICAL=P07437-1" }, "locus": { "chromosome": "HSCHR6_MHC_APD_CTG1", "start_pos": 2053897, "end_pos": 2050010, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421473.6", "url": "https://www.ensembl.org/id/ENST00000421473.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000399155.2", "url": "https://www.ensembl.org/id/ENSP00000399155.2" } ] } }, { "isoform_ac": "Q5JP53-1", "url": "", "sequence": { "sequence": "MFWEVISDEHGIDPTGTYHGDSDLQLDRISVYYNEATGGKYVPRAILVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQVFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRGLKMAVTFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDFGEEAEEEA", "length": 426, "header": "tr|Q5JP53-1|Q5JP53_HUMAN Computationally mapped isoform of Tubulin beta chain OS=Homo sapiens OX=9606 GN=TUBB PE=1 SV=1 CANONICAL=P07437-1" }, "locus": { "chromosome": "HSCHR6_MHC_SSTO_CTG1", "start_pos": 2025180, "end_pos": 2023046, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424734.5", "url": "https://www.ensembl.org/id/ENST00000424734.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413589.1", "url": "https://www.ensembl.org/id/ENSP00000413589.1" } ] } }, { "isoform_ac": "Q5ST81-1", "url": "", "sequence": { "sequence": "MDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQVFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRGLKMAVTFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEEDFGEEAEEEA", "length": 372, "header": "tr|Q5ST81-1|Q5ST81_HUMAN Computationally mapped isoform of Tubulin beta chain OS=Homo sapiens OX=9606 GN=TUBB PE=1 SV=1 CANONICAL=P07437-1" }, "locus": { "chromosome": "HSCHR6_MHC_QBL_CTG1", "start_pos": 1979506, "end_pos": 1978080, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000400530.1", "url": "https://www.ensembl.org/id/ENST00000400530.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000383374.1", "url": "https://www.ensembl.org/id/ENSP00000383374.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 107, "start_aa": "Thr", "end_pos": 107, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr107", "evidence": [ { "id": "P07437", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07437" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "18369606", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18369606" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 126, "start_aa": "Ser", "end_pos": 126, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser126", "evidence": [ { "id": "P07437", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07437" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "18369606", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18369606" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 168, "start_aa": "Ser", "end_pos": 168, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser168", "evidence": [ { "id": "P07437", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07437" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "18369606", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18369606" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "26853435", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26853435" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "P07437", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P07437" }, { "id": "26165356", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26165356" } ] }, { "glytoucan_ac": "G49108TO", 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Chem.", "date": "2001", "authors": "Crabtree D V, Ojima I, Geng X, Adler A J", "evidence": [ { "database": "UniProtKB", "id": "P07437", "url": "https://www.uniprot.org/uniprot/P07437" } ], "reference": [ { "type": "PubMed", "id": "11504633", "url": "https://glygen.org/publication/PubMed/11504633" } ] }, { "title": "Direct binding of NuMA to tubulin is mediated by a novel sequence motif in the tail domain that bundles and stabilizes microtubules.", "journal": "Journal of cell science", "date": "2002", "authors": "Haren L, Merdes A", "evidence": [ { "database": "Reactome", "id": "R-HSA-380320", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380320" } ], "reference": [ { "type": "PubMed", "id": "11956313", "url": "https://glygen.org/publication/PubMed/11956313" } ] }, { "title": "Phosphorylation of threonine 210 and the role of serine 137 in the regulation of mammalian polo-like kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Jang YJ, Ma S, Terada Y, Erikson RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "12207013", "url": "https://glygen.org/publication/PubMed/12207013" } ] }, { "title": "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Takahashi M, Yamagiwa A, Nishimura T, Mukai H, Ono Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-380270", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380270" } ], "reference": [ { "type": "PubMed", "id": "12221128", "url": "https://glygen.org/publication/PubMed/12221128" } ] }, { "title": "Nuclear translocation of plk1 mediated by its bipartite nuclear localization signal.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Taniguchi E, Toyoshima-Morimoto F, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "12364337", "url": "https://glygen.org/publication/PubMed/12364337" } ] }, { "title": "Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation.", "journal": "Developmental cell", "date": "2003", "authors": "Casenghi M, Meraldi P, Weinhart U, Duncan PI, Korner R, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-380259", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-380259" } ], "reference": [ { "type": "PubMed", "id": "12852856", "url": "https://glygen.org/publication/PubMed/12852856" } ] }, { "title": "Aurora-A and an interacting activator, the LIM protein Ajuba, are required for mitotic commitment in human cells.", "journal": "Cell", "date": "2003", "authors": "Hirota T, Kunitoku N, Sasayama T, Marumoto T, Zhang D, Nitta M, Hatakeyama K, Saya H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2565942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2565942" } ], "reference": [ { "type": "PubMed", "id": "13678582", "url": "https://glygen.org/publication/PubMed/13678582" } ] }, { "title": "Structural basis of Aurora-A activation by TPX2 at the mitotic spindle.", "journal": "Molecular cell", "date": "2003", "authors": "Bayliss R, Sardon T, Vernos I, Conti E", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "14580337", "url": "https://glygen.org/publication/PubMed/14580337" } ] }, { "title": "XRHAMM functions in ran-dependent microtubule nucleation and pole formation during anastral spindle assembly.", "journal": "Current biology : CB", "date": "2004", "authors": "Groen AC, Cameron LA, Coughlin M, Miyamoto DT, Mitchison TJ, Ohi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-8854518", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8854518" } ], "reference": [ { "type": "PubMed", "id": "15498487", "url": "https://glygen.org/publication/PubMed/15498487" } ] }, { "title": "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.", "journal": "Nat. 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This phosphorylation inhibits tubulin incorporation into microtubules.", "evidence": [ { "database": "UniProtKB", "id": "P07437", "url": "https://www.uniprot.org/uniprot/P07437" }, { "database": "PubMed", "id": "16371510", "url": "https://glygen.org/publication/PubMed/16371510" } ] }, { "annotation": "Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into cilia and flagella axonemes, which is required for their stability and maintenance. Flagella glycylation controls sperm motility (Probable) (PubMed:28576883). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally (Probable) (PubMed:28576883).", "evidence": [ { "database": "UniProtKB", "id": "P07437", "url": "https://www.uniprot.org/uniprot/P07437" }, { "database": "PubMed", "id": "19524510", "url": "https://glygen.org/publication/PubMed/19524510" }, { "database": "PubMed", "id": "28576883", "url": "https://glygen.org/publication/PubMed/28576883" } ] }, { "annotation": "Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866, PubMed:28576883). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866). 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