{ "uniprot_canonical_ac": "O00507-1", "uniprot_ac": "O00507", "uniprot_id": "USP9Y_HUMAN", "mass": { "chemical_mass": 291077.0, "monoisotopic_mass": 291077.0 }, "refseq": { "ac": "NP_004645", "name": "probable ubiquitin carboxyl-terminal hydrolase FAF-Y", "summary": "This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645" }, "gene_names": [ { "name": "USP9Y", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00507", "id": "O00507" }, { "name": "DFFRY; SPGFY2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645", "id": "NP_004645" }, { "name": "DFFRY", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00507", "id": "O00507" }, { "name": "USP9Y", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645", "id": "NP_004645" } ], "protein_names": [ { "name": "Probable ubiquitin carboxyl-terminal hydrolase FAF-Y", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00507" }, { "name": "3.4.19.12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00507" }, { "name": "Deubiquitinating enzyme FAF-Y", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00507" }, { "name": "Fat facets protein-related, Y-linked", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00507" }, { "name": "Ubiquitin thioesterase FAF-Y", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00507" }, { "name": "Ubiquitin-specific protease 9, Y chromosome", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00507" }, { "name": "Ubiquitin-specific-processing protease FAF-Y", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00507" }, { "name": "probable ubiquitin carboxyl-terminal hydrolase FAF-Y", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645", "id": "NP_004645" }, { "name": "ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila); ubiquitin thiolesterase FAF-Y; ubiquitin-specific processing protease FAF-Y; deubiquitinating enzyme FAF-Y; ubiquitin thioesterase FAF-Y; fat facets protein-related, Y-linked; ubiquitin-specific protease 9, Y chromosome; azoospermia factor A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645", "id": "NP_004645" } ], "function": [ { "annotation": "An impact of the identified polymorphism on discrimination of alleles of the M46 locus with various techniques was discussed, and solutions ensuring correctness of the genotyping results were proposed.", "evidence": [ { "database": "RefSeq", "id": "NP_004645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645" }, { "database": "PubMed", "id": "23650841", "url": "https://glygen.org/publication/PubMed/23650841" } ] }, { "annotation": "May function as a ubiquitin-protein or polyubiquitin hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Essential component of TGF-beta/BMP signaling cascade. Deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Monoubiquitination of SMAD4 hampers its ability to form a stable complex with activated SMAD2/3 resulting in inhibition of TGF-beta/BMP signaling cascade. Deubiquitination of SMAD4 by USP9X re-empowers its competence to mediate TGF-beta signaling (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507#function" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_004645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645" }, { "database": "PubMed", "id": "18511697", "url": "https://glygen.org/publication/PubMed/18511697" } ] }, { "annotation": "This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_004645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645" } ] }, { "annotation": "This is the first research investigating the utility of TTTY15-USP9Y in prostate cancer detection", "evidence": [ { "database": "RefSeq", "id": "NP_004645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645" }, { "database": "PubMed", "id": "26008593", "url": "https://glygen.org/publication/PubMed/26008593" } ] } ], "disease": [ { "disease_id": "DOID:0070187", "recommended_name": { "id": "DOID:0070187", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070187", "name": "Y-linked spermatogenic failure 2", "description": "A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region." }, "synonyms": [ { "id": "DOID:0070187", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070187", "name": "SPGFY2", "description": "" }, { "id": "DOID:0070187", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070187", "name": "nonobstructive Y-linked spermatogenic failure", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "spermatogenic failure, Y-linked, 2", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "spermatogenic failure, Y-linked, 2", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "spermatogenic failure, Y-linked, 2, Y-linked", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "spermatogenic failure, Y-linked, type 2", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "Azf regions", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "SPGFY2", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "azoospermia Factor regions", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "azoospermia, nonobstructive, Y-linked", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "oligospermia, nonobstructive, Y-linked", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "oligozoospermia, nonobstructive, Y-linked", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "spermatogenic arrest, Y-linked", "description": "" }, { "id": "MONDO:0010767", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010767", "name": "spermatogenic failure, nonobstructive, Y-linked", "description": "" }, { "id": "MIM:415000", "resource": "MIM", "url": "https://www.omim.org/entry/415000", "name": "Spermatogenic failure Y-linked 2", "description": "Spermatogenic failure Y-linked 2" } ], "evidence": [ { "id": "415000", "database": "MIM", "url": "https://www.omim.org/entry/415000" } ] } ], "snv": [ { "evidence": [ { "id": "rs20319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs20319" }, { "id": "rs20319", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs20319" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1035, "end_pos": 1035, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMP->NMS).", "chr_id": "Y", "chr_pos": "12779598", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1035", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759085351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759085351" }, { "id": "rs759085351", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759085351" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1209, "end_pos": 1209, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NAS).", "chr_id": "Y", "chr_pos": "12790470", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1209", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00507", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00507" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1209, "end_pos": 1209, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NSS).", "chr_id": "Y", "chr_pos": "12790470", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1209", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1315335076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315335076" }, { "id": "rs1315335076", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315335076" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1392, "end_pos": 1392, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGN->NGS).", "chr_id": "Y", "chr_pos": "12810754", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1392", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1274106858", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274106858" }, { "id": "rs1274106858", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274106858" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1503, "end_pos": 1503, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAG->NAS).", "chr_id": "Y", "chr_pos": "12812950", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1503", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751585694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751585694" }, { "id": "rs751585694", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751585694" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1519, "end_pos": 1519, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLK->NLT).", "chr_id": "Y", "chr_pos": "12812999", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1519", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764170480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764170480" }, { "id": "rs764170480", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764170480" }, { "id": "rs764170480", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764170480" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 396, "end_pos": 396, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNI->NNT).", "chr_id": "Y", "chr_pos": "12738179", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I396", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1267993375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267993375" }, { "id": "rs1267993375", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1267993375" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 957, "end_pos": 957, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLK->NLT).", "chr_id": "Y", "chr_pos": "12778249", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K957", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1347195571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347195571" }, { "id": "rs1347195571", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347195571" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 958, "end_pos": 958, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "Y", "chr_pos": "12778251", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D958", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754854002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754854002" }, { "id": "rs754854002", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754854002" }, { "id": "rs754854002", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754854002" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 982, "end_pos": 982, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "Y", "chr_pos": "12778669", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D982", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "30.62", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "44.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "54.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "71.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "58.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "66.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "44.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00507", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00507" } ], "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", 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "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 developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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"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, 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "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, 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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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00507", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00507" } ], "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", 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"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 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"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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00507", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00507" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "common_name": "Human" } ], "gene": [ { "name": "USP9Y", "url": "https://www.uniprot.org/uniprot/O00507", "locus": { "chromosome": "Y", "start_pos": 12860839, "end_pos": 12537650, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000114374", "url": "https://www.ensembl.org/id/ENSG00000114374" } ] } } ], "crossref": [ { "id": "ENSG00000114374", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000114374", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00507", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00507", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd02659", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02659", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "USP9Y", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=USP9Y", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8287", "url": "https://www.ncbi.nlm.nih.gov/gene/8287", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "12633", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12633", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00507", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00507*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001394", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001394", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018200", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018200", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR021905", "url": "https://www.ebi.ac.uk/interpro/entry/IPR021905", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR028889", "url": "https://www.ebi.ac.uk/interpro/entry/IPR028889", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038765", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038765", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8287", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8287", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "400005", "url": "http://www.omim.org/entry/400005", "database": "MIM", "categories": [ "Other" ] }, { "id": "415000", "url": "http://www.omim.org/entry/415000", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00507", "url": "https://www.nextprot.org/entry/NX_O00507", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O00507", "url": "https://oglcnac.org/atlas/detail/O00507", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O00507", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00507", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ITWASAC", "url": "https://omabrowser.org/oma/group/ITWASAC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "6206at2759", "url": "http://www.orthodb.org/?query=6206at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24006", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24006", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24006:SF693", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24006:SF693", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00443", "url": "http://pfam.xfam.org/family/PF00443", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12030", "url": "http://pfam.xfam.org/family/PF12030", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00507", "url": "https://pharos.nih.gov/targets/O00507", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00507", "url": "http://purl.obolibrary.org/obo/PR_O00507", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_004645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H7C2M9", "url": "https://www.uniprot.org/uniprot/H7C2M9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2M9-1", "url": "https://www.uniprot.org/uniprot/H7C2M9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00507-1", "url": "https://www.uniprot.org/uniprot/O00507-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00507-2", "url": "https://www.uniprot.org/uniprot/O00507-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTAITHGSPVGGNDSQGQVLDGQSQHLFQQNQTSSPDSSNENSVATPPPEEQGQGDAPPQHEDEEPAFPHTELANLDDMINRPRWVVPVLPKGELEVLLEAAIDLSVKGLDVKSEACQRFFRDGLTISFTKILMDEAVSGWKFEIHRCIINNTHRLVELCVAKLSQDWFPLLELLAMALNPHCKFHIYNGTRPCELISSNAQLPEDELFARSSDPRSPKGWLVDLINKFGTLNGFQILHDRFFNGSALNIQIIAALIKPFGQCYEFLSQHTLKKYFIPVIEIVPHLLENLTDEELKKEAKNEAKNDALSMIIKSLKNLASRISGQDETIKNLEIFRLKMILRLLQISSFNGKMNALNEINKVISSVSYYTHRHSNPEEEEWLTAERMAEWIQQNNILSIVLQDSLHQPQYVEKLEKILRFVIKEKALTLQDLDNIWAAQAGKHEAIVKNVHDLLAKLAWDFSPGQLDHLFDCFKASWTNASKKQREKLLELIRRLAEDDKDGVMAHKVLNLLWNLAQSDDVPVDIMDLALSAHIKILDYSCSQDRDAQKIQWIDHFIEELRTNDKWVIPALKQIREICSLFGEASQNLSQTQRSPHIFYRHDLINQLQQNHALVTLVAENLATYMNSIRLYAGDHEDYDPQTVRLGSRYSHVQEVQERLNFLRFLLKDGQLWLCAPQAKQIWKCLAENAVYLCDREACFKWYSKLMGDEPDLDPDINKDFFESNVLQLDPSLLTENGMKCFERFFKAVNCRERKLIAKRRSYMMDDLELIGLDYLWRVVIQSSDEIANRAIDLLKEIYTNLGPRLKANQVVIHEDFIQSCFDRLKASYDTLCVFDGDKNSINCARQEAIRMVRVLTVIKEYINECDSDYHKERMILPMSRAFRGKHLSLIVRFPNQGRQVDELDIWSHTNDTIGSVRRCIVNRIKANVAHKKIELFVGGELIDSEDDRKLIGQLNLKDKSLITAKLTQINFNMPSSPDSSSDSSTASPGNHRNHYNDGPNLEVESCLPGVIMSVHPRYISFLWQVADLGSNLNMPPLRDGARVLMKLMPPDRTAVEKLRAVCLDHAKLGEGKLSPPLDSLFFGPSASQVLYLTEVVYALLMPAGVPLTDGSSDFQVHFLKSGGLPLVLSMLIRNNFLPNTDMETRRGAYLNALKIAKLLLTAIGYGHVRAVAEACQPVVDGTDPITQINQVTHDQAVVLQSALQSIPNPSSECVLRNESILLAQEISNEASRYMPDICVIRAIQKIIWASACGALGLVFSPNEEITKIYQMTTNGSNKLEVEDEQVCCEALEVMTLCFALLPTALDALSKEKAWQTFIIDLLLHCPSKTVRQLAQEQFFLMCTRCCMGHRPLLFFITLLFTILGSTAREKGKYSGDYFTLLRHLLNYAYNGNINIPNAEVLLVSEIDWLKRIRDNVKNTGETGVEEPILEGHLGVTKELLAFQTSEKKYHFGCEKGGANLIKELIDDFIFPASKVYLQYLRSGELPAEQAIPVCSSPVTINAGFELLVALAIGCVRNLKQIVDCLTEMYYMGTAITTCEALTEWEYLPPVGPRPPKGFVGLKNAGATCYMNSVIQQLYMIPSIRNSILAIEGTGSDLHDDMFGDEKQDSESNVDPRDDVFGYPHQFEDKPALSKTEDRKEYNIGVLRHLQVIFGHLAASQLQYYVPRGFWKQFRLWGEPVNLREQHDALEFFNSLVDSLDEALKALGHPAILSKVLGGSFADQKICQGCPHRYECEESFTTLNVDIRNHQNLLDSLEQYIKGDLLEGANAYHCEKCDKKVDTVKRLLIKKLPRVLAIQLKRFDYDWERECAIKFNDYFEFPRELDMGPYTVAGVANLERDNVNSENELIEQKEQSDNETAGGTKYRLVGVLVHSGQASGGHYYSYIIQRNGKDDQTDHWYKFDDGDVTECKMDDDEEMKNQCFGGEYMGEVFDHMMKRMSYRRQKRWWNAYILFYEQMDMIDEDDEMIRYISELTIARPHQIIMSPAIERSVRKQNVKFMHNRLQYSLEYFQFVKKLLTCNGVYLNPAPGQDYLLPEAEEITMISIQLAARFLFTTGFHTKKIVRGPASDWYDALCVLLRHSKNVRFWFTHNVLFNVSNRFSEYLLECPSAEVRGAFAKLIVFIAHFSLQDGSCPSPFASPGPSSQACDNLSLSDHLLRATLNLLRREVSEHGHHLQQYFNLFVMYANLGVAEKTQLLKLNVPATFMLVSLDEGPGPPIKYQYAELGKLYSVVSQLIRCCNVSSTMQSSINGNPPLPNPFGDLNLSQPIMPIQQNVLDILFVRTSYVKKIIEDCSNSEDTIKLLRFCSWENPQFSSTVLSELLWQVAYSYTYELRPYLDLLFQILLIEDSWQTHRIHNALKGIPDDRDGLFDTIQRSKNHYQKRAYQCIKCMVALFSSCPVAYQILQGNGDLKRKWTWAVEWLGDELERRPYTGNPQYSYNNWSPPVQSNETANGYFLERSHSARMTLAKACELCPEEEPDDQDAPDEHEPSPSEDAPLYPHSPASQYQQNNHVHGQPYTGPAAHHLNNPQKTGQRTQENYEGNEEVSSPQMKDQ", "length": 2555, "header": "sp|O00507-1|USP9Y_HUMAN Isoform 1 of Probable ubiquitin carboxyl-terminal hydrolase FAF-Y OS=Homo sapiens OX=9606 GN=USP9Y PE=2 SV=2 CANONICAL=O00507-1" }, "isoforms": [ { "isoform_ac": "H7C2M9-1", "url": "", "sequence": { "sequence": "XLLKTAVTQRIPSNYFAFALGRILSSHLLSSANFSGRIHNALKGIPDDRDGLFDTIQRSKNHYQKRAYQCIKCMVALFSSCPVAYQILQGNGDLKRKWTWAVEWLGDELERRPYTGNPQYSYNNWSPPVQSNETANGYFLERSHSARMTLAKACELCPEEEPDDQDAPDEHEPSPSEDAPLYPHSPASQYQQNNHVHGQPYTGPAAHHLNNPQKTGQRTQENYEGNEEVSSPQMKDQ", "length": 237, "header": "tr|H7C2M9-1|H7C2M9_HUMAN Computationally mapped isoform of Ubiquitin specific peptidase 9 Y-linked OS=Homo sapiens OX=9606 GN=USP9Y PE=1 SV=1 CANONICAL=O00507-1" }, "locus": { "chromosome": "Y", "start_pos": 12859414, "end_pos": 12847045, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453031.1", "url": "https://www.ensembl.org/id/ENST00000453031.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000406876.1", "url": "https://www.ensembl.org/id/ENSP00000406876.1" } ] } }, { "isoform_ac": "O00507-1", "url": "", "sequence": { "sequence": "MTAITHGSPVGGNDSQGQVLDGQSQHLFQQNQTSSPDSSNENSVATPPPEEQGQGDAPPQHEDEEPAFPHTELANLDDMINRPRWVVPVLPKGELEVLLEAAIDLSVKGLDVKSEACQRFFRDGLTISFTKILMDEAVSGWKFEIHRCIINNTHRLVELCVAKLSQDWFPLLELLAMALNPHCKFHIYNGTRPCELISSNAQLPEDELFARSSDPRSPKGWLVDLINKFGTLNGFQILHDRFFNGSALNIQIIAALIKPFGQCYEFLSQHTLKKYFIPVIEIVPHLLENLTDEELKKEAKNEAKNDALSMIIKSLKNLASRISGQDETIKNLEIFRLKMILRLLQISSFNGKMNALNEINKVISSVSYYTHRHSNPEEEEWLTAERMAEWIQQNNILSIVLQDSLHQPQYVEKLEKILRFVIKEKALTLQDLDNIWAAQAGKHEAIVKNVHDLLAKLAWDFSPGQLDHLFDCFKASWTNASKKQREKLLELIRRLAEDDKDGVMAHKVLNLLWNLAQSDDVPVDIMDLALSAHIKILDYSCSQDRDAQKIQWIDHFIEELRTNDKWVIPALKQIREICSLFGEASQNLSQTQRSPHIFYRHDLINQLQQNHALVTLVAENLATYMNSIRLYAGDHEDYDPQTVRLGSRYSHVQEVQERLNFLRFLLKDGQLWLCAPQAKQIWKCLAENAVYLCDREACFKWYSKLMGDEPDLDPDINKDFFESNVLQLDPSLLTENGMKCFERFFKAVNCRERKLIAKRRSYMMDDLELIGLDYLWRVVIQSSDEIANRAIDLLKEIYTNLGPRLKANQVVIHEDFIQSCFDRLKASYDTLCVFDGDKNSINCARQEAIRMVRVLTVIKEYINECDSDYHKERMILPMSRAFRGKHLSLIVRFPNQGRQVDELDIWSHTNDTIGSVRRCIVNRIKANVAHKKIELFVGGELIDSEDDRKLIGQLNLKDKSLITAKLTQINFNMPSSPDSSSDSSTASPGNHRNHYNDGPNLEVESCLPGVIMSVHPRYISFLWQVADLGSNLNMPPLRDGARVLMKLMPPDRTAVEKLRAVCLDHAKLGEGKLSPPLDSLFFGPSASQVLYLTEVVYALLMPAGVPLTDGSSDFQVHFLKSGGLPLVLSMLIRNNFLPNTDMETRRGAYLNALKIAKLLLTAIGYGHVRAVAEACQPVVDGTDPITQINQVTHDQAVVLQSALQSIPNPSSECVLRNESILLAQEISNEASRYMPDICVIRAIQKIIWASACGALGLVFSPNEEITKIYQMTTNGSNKLEVEDEQVCCEALEVMTLCFALLPTALDALSKEKAWQTFIIDLLLHCPSKTVRQLAQEQFFLMCTRCCMGHRPLLFFITLLFTILGSTAREKGKYSGDYFTLLRHLLNYAYNGNINIPNAEVLLVSEIDWLKRIRDNVKNTGETGVEEPILEGHLGVTKELLAFQTSEKKYHFGCEKGGANLIKELIDDFIFPASKVYLQYLRSGELPAEQAIPVCSSPVTINAGFELLVALAIGCVRNLKQIVDCLTEMYYMGTAITTCEALTEWEYLPPVGPRPPKGFVGLKNAGATCYMNSVIQQLYMIPSIRNSILAIEGTGSDLHDDMFGDEKQDSESNVDPRDDVFGYPHQFEDKPALSKTEDRKEYNIGVLRHLQVIFGHLAASQLQYYVPRGFWKQFRLWGEPVNLREQHDALEFFNSLVDSLDEALKALGHPAILSKVLGGSFADQKICQGCPHRYECEESFTTLNVDIRNHQNLLDSLEQYIKGDLLEGANAYHCEKCDKKVDTVKRLLIKKLPRVLAIQLKRFDYDWERECAIKFNDYFEFPRELDMGPYTVAGVANLERDNVNSENELIEQKEQSDNETAGGTKYRLVGVLVHSGQASGGHYYSYIIQRNGKDDQTDHWYKFDDGDVTECKMDDDEEMKNQCFGGEYMGEVFDHMMKRMSYRRQKRWWNAYILFYEQMDMIDEDDEMIRYISELTIARPHQIIMSPAIERSVRKQNVKFMHNRLQYSLEYFQFVKKLLTCNGVYLNPAPGQDYLLPEAEEITMISIQLAARFLFTTGFHTKKIVRGPASDWYDALCVLLRHSKNVRFWFTHNVLFNVSNRFSEYLLECPSAEVRGAFAKLIVFIAHFSLQDGSCPSPFASPGPSSQACDNLSLSDHLLRATLNLLRREVSEHGHHLQQYFNLFVMYANLGVAEKTQLLKLNVPATFMLVSLDEGPGPPIKYQYAELGKLYSVVSQLIRCCNVSSTMQSSINGNPPLPNPFGDLNLSQPIMPIQQNVLDILFVRTSYVKKIIEDCSNSEDTIKLLRFCSWENPQFSSTVLSELLWQVAYSYTYELRPYLDLLFQILLIEDSWQTHRIHNALKGIPDDRDGLFDTIQRSKNHYQKRAYQCIKCMVALFSSCPVAYQILQGNGDLKRKWTWAVEWLGDELERRPYTGNPQYSYNNWSPPVQSNETANGYFLERSHSARMTLAKACELCPEEEPDDQDAPDEHEPSPSEDAPLYPHSPASQYQQNNHVHGQPYTGPAAHHLNNPQKTGQRTQENYEGNEEVSSPQMKDQ", "length": 2555, "header": "sp|O00507-1|USP9Y_HUMAN Isoform 1 of Probable ubiquitin carboxyl-terminal hydrolase FAF-Y OS=Homo sapiens OX=9606 GN=USP9Y PE=2 SV=2 CANONICAL=O00507-1" }, "locus": { "chromosome": "Y", "start_pos": 12859413, "end_pos": 12709448, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651177.1", "url": "https://www.ensembl.org/id/ENST00000651177.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498372.1", "url": "https://www.ensembl.org/id/ENSP00000498372.1" } ] } }, { "isoform_ac": "O00507-2", "url": "", "sequence": { "sequence": "MTAITHGSPVGGNDSQGQVLDGQSQHLFQQNQTSSPDSSNENSVATPPPEEQGQGDAPPQHEDEEPAFPHTELANLDDMINRPRWVVPVLPKGELEVLLEAAIDLSVKGLDVKSEACQRFFRDGLTISFTKILMDEAVSGWKFEIHRCIINNTHRLVELCVAKLSQDWFPLLELLAMALNPHCKFHIYNGTRPCELISSNAQLPEDELFARSSDPRSPKGWLVDLINKFGTLNGFQILHDRFFNGSALNIQIIAALIKPFGQCYEFLSQHTLKKYFIPVIEIVPHLLENLTDEELKKEAKNEAKNDALSMIIKSLKNLASRISGQDETIKNLEIFRLKMILRLLQISSFNGKMNALNEINKVISSVSYYTHRHSNPEEEEWLTAERMAEWIQQNNILSIVLQDSLHQPQYVEKLEKILRFVIKEKALTLQDLDNIWAAQAGKHEAIVKNVHDLLAKLAWDFSPGQLDHLFDCFKASWTNASKKQREKLLELIRRLAEDDKDGVMAHKVLNLLWNLAQSDDVPVDIMDLALSAHIKILDYSCSQDRDAQKIQWIDHFIEELRTNDKWVIPALKQIREICSLFGEASQNLSQTQRSPHIFYRHDLINQLQQNHALVTLVAENLATYMNSIRLYAGDHEDYDPQTVRLGSRYSHVQEVQERLNFLRFLLKDGQLWLCAPQAKQIWKCLAENAVYLCDREACFKWYSKLMGDEPDLDPDINKDFFESNVLQLDPSLLTENGMKCFERFFKAVNCRERKLIAKRRSYMMDDLELIGLDYLWRVVIQSSDEIANRAIDLLKEIYTNLGPRLKANQVVIHEDFIQSCFDRLKASYDTLCVFDGDKNSINCARQEAIRMVRVLTVIKEYINECDSDYHKERMILPMSRAFRGKHLSLIVRFPNQGRQVDELDIWSHTNDTIGSVRRCIVNRIKANVAHKKIELFVGGELIDSEDDRKLIGQLNLKDKSLITAKLTQINFNMPSSPDSSSDSSTASPGNHRNHYNDGPNLEVESCLPGVIMSVHPRYISFLWQVADLGSNLNMPPLRDGARVLMKLMPPDRTAVEKLRAVCLDHAKLGEGKLSPPLDSLFFGPSASQVLYLTEVVYALLMPAGVPLTDGSSDFQVHFLKSGGLPLVLSMLIRNNFLPNTDMETRRGAYLNALKIAKLLLTAIGYGHVRAVAEACQPVVDGTDPITQINQVTHDQAVVLQSALQSIPNPSSECVLRNESILLAQEISNEASRYMPDICVIRAIQKIIWASACGALGLVFSPNEEITKIYQMTTNGSNKLEVEDEQVCCEALEVMTLCFALLPTALDALSKEKAWQTFIIDLLLHCPSKTVRQLAQEQFFLMCTRCCMGHRPLLFFITLLFTILGSTAREKGKYSGDYFTLLRHLLNYAYNGNINIPNAEVLLVSEIDWLKRIRDNVKNTGETGVEEPILEGHLGVTKELLAFQTSEKKYHFGCEKGGANLIKELIDDFIFPASKVYLQYLRSGELPAEQAIPVCSSPVTINAGFELLVALAIGCVRNLKQIVDCLTEMYYMGTAITTCEALTEWEYLPPVGPRPPKGFVGLKNAGATCYMNSVIQQLYMIPSIRNSILAIEGTGSDLHDDMFGDEKQDSESNVDPRDDVFGYPHQFEDKPALSKTEDRKEYNIGVLRHLQVIFGHLAASQLQYYVPRGFWKQFRLWGEPVNLREQHDALEFFNSLVDSLDEALKALGHPAILSKVLGGSFADQKICQGCPHRYECEESFTTLNVDIRNHQNLLDSLEQYIKGDLLEGANAYHCEKCDKKVDTVKRLLIKKLPRVLAIQLKRFDYDWERECAIKFNDYFEFPRELDMGPYTVAGVANLERDNVNSENELIEQKEQSDNETAGGTKYRLVGVLVHSGQASGGHYYSYIIQRNGKDDQTDHWYKFDDGDVTECKMDDDEEMKNQCFGGEYMGEVFDHMMKRMSYRRQKRWWNAYILFYEQMDMIDEDDEMIRYISELTIARPHQIIMSPAIERSVRKQNVKFMHNRLQYSLEYFQFVKKLLTCNGVYLNPAPGQDYLLPEAEEITMISIQLAARFLFTTGFHTKKIVRGPASD", "length": 2070, "header": "sp|O00507-2|USP9Y_HUMAN Isoform 2 of Probable ubiquitin carboxyl-terminal hydrolase FAF-Y OS=Homo sapiens OX=9606 GN=USP9Y PE=2 SV=2 CANONICAL=O00507-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2461, "start_aa": "Ser", "end_pos": 2461, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser2461", "evidence": [ { "id": "O00507", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00507" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "O00507", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00507" } ] } ], "phosphorylation": [ { "start_pos": 1233, "end_pos": 1233, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00507", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00507" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Tyr1233" }, { "start_pos": 2444, "end_pos": 2444, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "site_lbl": "Ser2444" }, { "start_pos": 2541, "end_pos": 2541, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "site_lbl": "Tyr2541" }, { "start_pos": 2548, "end_pos": 2548, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "site_lbl": "Ser2548" }, { "start_pos": 589, "end_pos": 589, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "site_lbl": "Ser589" }, { "start_pos": 591, "end_pos": 591, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "site_lbl": "Thr591" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.", "journal": "Nat. Genet.", "date": "1999", "authors": "Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, Oates R, Page D C", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "reference": [ { "type": "PubMed", "id": "10581029", "url": "https://glygen.org/publication/PubMed/10581029" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Hillman R Tyler, Green Richard E, Brenner Steven E", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "title": "Genetic variants of Y chromosome are associated with a protective lipid profile in black men.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2008", "authors": "Russo P, Siani A, Miller MA, Karanam S, Esposito T, Gianfrancesco F, Barba G, Lauria F, Strazzullo P, Cappuccio FP", "evidence": [ { "database": "RefSeq", "id": "NP_004645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645" } ], "reference": [ { "type": "PubMed", "id": "18511697", "url": "https://glygen.org/publication/PubMed/18511697" } ] }, { "title": "Spermatogenesis in a man with complete deletion of USP9Y.", "journal": "N. Engl. J. Med.", "date": "2009", "authors": "Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "reference": [ { "type": "PubMed", "id": "19246359", "url": "https://glygen.org/publication/PubMed/19246359" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O00507-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00507-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "[Identification of a novel Y-SNP in the USP9Y gene and its impact on genotyping alleles of the M46 locus].", "journal": "Archiwum medycyny sadowej i kryminologii", "date": "2012", "authors": "Rebala K, Tsybovsky IS, Mikulich AI, Szczerkowska Z", "evidence": [ { "database": "RefSeq", "id": "NP_004645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645" } ], "reference": [ { "type": "PubMed", "id": "23650841", "url": "https://glygen.org/publication/PubMed/23650841" } ] }, { "title": "Clinical utility of a novel urine-based gene fusion TTTY15-USP9Y in predicting prostate biopsy outcome.", "journal": "Urologic oncology", "date": "2015", "authors": "Zhu Y, Ren S, Jing T, Cai X, Liu Y, Wang F, Zhang W, Shi X, Chen R, Shen J, Lu J, Xu C, Wang H, Wang H, Wang Y, Liu B, Li Y, Fang Z, Guo F, Qiao M, Shen D, Lu X, Gao X, Hou J, Sun Y", "evidence": [ { "database": "RefSeq", "id": "NP_004645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004645" } ], "reference": [ { "type": "PubMed", "id": "26008593", "url": "https://glygen.org/publication/PubMed/26008593" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00507", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00507" }, { "database": "O-GlcNAc Atlas", "id": "O00507", "url": "https://oglcnac.org/atlas/detail/O00507" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.", "journal": "Hum. Mol. Genet.", "date": "1996", "authors": "Jones M H, Furlong R A, Burkin H, Chalmers I J, Brown G M, Khwaja O, Affara N A", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "reference": [ { "type": "PubMed", "id": "8922996", "url": "https://glygen.org/publication/PubMed/8922996" } ] }, { "title": "Functional coherence of the human Y chromosome.", "journal": "Science", "date": "1997", "authors": "Lahn B T, Page D C", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "reference": [ { "type": "PubMed", "id": "9381176", "url": "https://glygen.org/publication/PubMed/9381176" } ] }, { "title": "Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene.", "journal": "Hum. Mol. Genet.", "date": "1998", "authors": "Brown GM, Furlong RA, Sargent CA, Erickson RP, Longepied G, Mitchell M, Jones MH, Hargreave TB, Cooke HJ, Affara NA", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "reference": [ { "type": "PubMed", "id": "9384609", "url": "https://glygen.org/publication/PubMed/9384609" } ] } ], "pathway": [ { "id": "hsa:8287", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8287", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "F8VPU6-1", "protein_name": "Ubiquitin carboxyl-terminal hydrolase 9Y", "gene_name": "Usp9y", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTITTRGSPVGENESQGQTSDGQPQPSFQQNQISSSDSSNETSPTTPPYEQGQGDAPPQHEEEDPSFPHTDLAKLEDMINRSRWVVPVLPKGELEVLLEASIDLTKKGLDVKSEACQRFFRDVLTVSFSKILMDEAVSGWKFEIHRCIINNTHRLVELCVAKLSQDWFPFLELLAIALNPHCKFHVYNGARPCESVSSSVQFPEDELFACSPDLHSPKGWLVDLINTFGTLNGFQILHDRFTSGSALNVQTIAALIKPFGQCYEFLTQHTLRKYFIPVIEVVPQILQKLTNEELKKETKTEVKNDTISMIIKFLKNLASRIPGQEETVKNLETFRLKMILRLLQISSFNGKMNALNEINKVLSSVSYYTHGHGNSEEEWLTVERMTEWIQQNNILSIVLQDSLHQPQYVEKIEKILRFVIKEKALTLQDLNNIWAAQAGKHEAIVKNVHDLLAKLAWNFSPEQLDHLFDCFKASWTNASKKQREKLLELIRRLAEDDKDGVMAHKVLNLLWNLAHSDDVPVDIMDLALSAHIKILDYSCSQDRDTQKIQWIDCFIEEFRTNNKWVIPALKQIKEICSLFGEAPQNLSQTHQSPRVFYRHDLISQLQHNHALVTLVAENLAAYMNSIRLYARDHEDYDPQTVRLGSRYSHVQEVQERLNFLRFLLKDGQLWLCVSQAKQIWNCLAENAVYFSDREACFMWYSKLMGDEPDLHPDINKEFFESNVLQLDPSLLTENGMKCFERFFKTVNCREGKLMIKRKIYMMDDLDLIGLDYLWKVVIQSNDDISSRAIDLLKEIYTSLGPKLQANQVVIHEDFIQSCFDRLKASYDTLCVLDSEKDNIFSCARQEAIRMVRILTVLREYISEYDSDYHEERMILPMSRAFRGKHLSFTVRFPNQGKEVEDLDILSHTNATIGSVRRCILNRMNVNVAHTKIELFIGGELVASEDDRKLVEQLNLKDKSLITAKFIQINSNMPSSPDSSSDSSAGPPGNHSHNNYRDVSNPEMEKCLPGVIMSLQPRYISFLWQVADLGSMLTVPTLRDGARILMKLMPPDSTTLEQLRALCSDHVNLGERRLGQSLHSLFFGSSASQVLYLTEVVYTLLMPAGAPLADISSDFQYHFLKSGGLPLVLSMLIQNNFLPNTDVETRRDAYFSALKIAKLLLTIVGYGHVQAIAEACQPVADGTDPKTPINQVTHDQAVVLQNALQSIPNPSSECMLRNVSVHLAQQISGLASRYIPDICVIRAIQKIIWAAGCGSLELVFSPNEDITETYKMTTSTRSNLEVKDEQVCCEALEVMTLCFALIPTAMDSLNKEKAWQSFVIDLLLYCPSKTVRQLAQEQFFLICTRCCMGHRPLLFFITLLFTILGGAANEKGKHSDVYFTLLRRLLTYAYNSNIQVPNVDVLLNDEIDWLKRVRDYIKNTGETNVEDPILEGHLGVTKELLSFQSPEKKYHIGCKTGGANLVKELIDYFIFPASKAYLQYMRSGELPIKQAIPVCGSPATINAGFELLVALAFGCVRNLKQIVNCLTELFYIGTPVTTCEAVGEWEYLPPVGPRPPKGFVGLKNAGATCYMNSVIQQLYMIPSIRNSILAIDSIWSDTDDDIFKGEKQDSENNVDPRDDVFRYPHQFEDKPTLSKVEDRKEYNIAVLKHLQITFGHLAASQLQYYVPKGFWQQFRLWGEPVNLREQHDALEFFNSLVDSLDEAFKALGYPTVLSKVLGGSFADQKICQGCPHRYECEESFTTLNVDIRNHQNLLDSLEQYVKGDLLEGANAYHCEKCDKKVDTVKRLLIKKLPSVLTIQLKRFDYDWERECAIKFNDYFEFPRELDMEPYTVAGATKLEGDSVNPQTQLIKQNEQSESVIPGSTKYRLVGVLVHSGQANGGHYYSYIIQRNGKDSKRSHWFKFDDGDVTECKMDDDEEMKNQCFGGEYMGEVFDHMMKRMSYRRQKRWWNAYILFYERMDITDEDDEIITYISELTFTRPHQIMSPAIERSVWKQNVQFLHNQMQFSLEYFQFIKKLLTCNAVYLSPAPGQDHLLPEAEDITMISIQLASRFLFTTGFHTKKIIRGPANDWYDALCILLRHSKNVRFWFVHNVLFNVSNRFSEYLLECPSAEIRGTFAKLIVFIAHFSLQDGSSPSPFTSPFANPGPYSQIYDNLSLSDHLLKAVLSLLRREVSEHGRHLQQYFNLFIMYASLGLAEKTQLLKLNVPATFMLVSLDEGPGPPVKYQYAELSKLHSVVSQLIRCCSVSSRMQSSINGNPPLPNPFGDPNLSQPIMPIQQNVADILFMRTTYMKKVIEDCSNSEDTVKLLLFCCWENPQFSCSVLSELLWQVAHSHAYELQPYLDLLLQIILFEDSWQAHRIHNALKGIPNDQDGLFDTIQHSKNHHQKRAYQCIKWMVTLFNSCPVAYQILQGNGDLKNKWTWAMEWLGDELERKPYSGNPQYTYSNWSPPVQSNETANGYFLEKSHSAKMKLTKACDLYPEEDPDDQDALDEHVSHAPQDRTFYLYSHRSHYQQNYVPEQPFSGPASHHLNNPQKNDKPQETHESNEEISSCLIKDQ", "length": 2556 }, "evidence": [ { "id": "45920756", "url": "http://www.informatics.jax.org/homology/45920756", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "co-SMAD binding", "id": "GO:0070410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070410", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "pmid": "" }, { "name": "cysteine-type peptidase activity", "id": "GO:0008234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008234", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "pmid": "" }, { "name": "cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "O00507", "url": "https://www.uniprot.org/uniprot/O00507" } ], "pmid": "" } ] }, { "name": 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