{ "uniprot_canonical_ac": "O00241-1", "uniprot_ac": "O00241", "uniprot_id": "SIRB1_HUMAN", "mass": { "chemical_mass": 43211.0, "monoisotopic_mass": 43211.0 }, "refseq": { "ac": "NP_001077379", "name": "signal-regulatory protein beta-1 isoform 2 precursor", "summary": "The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379" }, "gene_names": [ { "name": "SIRPB1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00241", "id": "O00241" }, { "name": "CD172b; SIRP-BETA-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379", "id": "NP_001077379" }, { "name": "SIRPB1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379", "id": "NP_001077379" } ], "protein_names": [ { "name": "Signal-regulatory protein beta-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00241" }, { "name": "CD172 antigen-like family member B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379", "id": "NP_001077379" }, { "name": "CD172 antigen-like family member B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00241" }, { "name": "SIRP-beta-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00241" }, { "name": "signal-regulatory protein beta-1 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379", "id": "NP_001077379" } ], "function": [ { "annotation": "A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.", "evidence": [ { "database": "RefSeq", "id": "NP_001077379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379" }, { "database": "PubMed", "id": "22360420", "url": "https://glygen.org/publication/PubMed/22360420" } ] }, { "annotation": "Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001077379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379" }, { "database": "PubMed", "id": "31349540", "url": "https://glygen.org/publication/PubMed/31349540" } ] }, { "annotation": "Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Participates also in the recruitment of tyrosine kinase SYK. Triggers activation of myeloid cells when associated with TYROBP (PubMed:10604985).", "evidence": [ { "database": "UniProtKB", "id": "O00241", "url": "https://www.uniprot.org/uniprot/O00241#function" }, { "database": "PubMed", "id": "10604985", "url": "https://glygen.org/publication/PubMed/10604985" }, { "database": "UniProtKB", "id": "Q5TFQ8", "url": "https://www.uniprot.org/uniprot/Q5TFQ8#function" } ] }, { "annotation": "SIRPB1 copy-number polymorphism was significantly associated with impulsive-disinhibited personality scores in a dose-dependent manner.", "evidence": [ { "database": "RefSeq", "id": "NP_001077379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379" }, { "database": "PubMed", "id": "25039969", "url": "https://glygen.org/publication/PubMed/25039969" } ] }, { "annotation": "SIRPbeta1 is a novel IFN-induced microglial receptor that supports clearance of neural debris and Abeta aggregates by stimulating phagocytosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001077379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379" }, { "database": "PubMed", "id": "19893026", "url": "https://glygen.org/publication/PubMed/19893026" } ] }, { "annotation": "The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001077379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00241", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00241" }, { "id": "rs1263301566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263301566" }, { "id": "rs1263301566", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263301566" }, { "id": "rs1263301566", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263301566" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 106, "end_pos": 106, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SIS->NIS).", "chr_id": "20", "chr_pos": "1578454", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S106", "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 - 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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": "" } ] }, { "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 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"DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O00241", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00241" }, { "id": "rs1329744761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1329744761" }, { "id": "rs1329744761", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1329744761" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 178, "end_pos": 178, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DIT->NIT).", "chr_id": "20", "chr_pos": "1571939", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D178", "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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs147864161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147864161" }, { "id": "rs147864161", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147864161" }, { "id": "rs147864161", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147864161" }, { "id": "rs147864161", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147864161#frequency_tab" }, { "id": "rs147864161", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147864161" }, { "id": "rs199605818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199605818" }, { "id": "rs199605818", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs199605818" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 188, "end_pos": 188, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGN->NGS).", "chr_id": "20", "chr_pos": "1571908", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "N188", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1256940906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1256940906" }, { "id": "rs1256940906", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1256940906#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 203, "end_pos": 203, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "20", "chr_pos": "1571863", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00241", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00241" } ], "glycoeffect": [], "start_pos": 240, "end_pos": 240, 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"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 mutation", "description": "" }, { "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "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, 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": "O00241", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00241" } ], "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "No", "trend": "up", "name": "Urinary bladder cancer 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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": "O00241", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00241" } ], "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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}, { "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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00241", "url": "https://www.uniprot.org/uniprot/O00241" } ], "common_name": "Human" } ], "gene": [ { "name": "SIRPB1", "url": "https://www.uniprot.org/uniprot/O00241", "locus": { "chromosome": "20", "start_pos": 1561385, "end_pos": 1620061, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000101307", "url": "https://www.ensembl.org/id/ENSG00000101307" } ] } } ], "crossref": [ { "id": "ENSG00000101307", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000101307", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00241", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00241", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd05772", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05772", "database": "CDD", 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"O00241", "url": "https://pharos.nih.gov/targets/O00241", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "Q5TFQ8", "url": "https://pharos.nih.gov/targets/Q5TFQ8", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "R-HSA-2172127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2172127", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-391160", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-391160", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001077379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O00241", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "H3BQ21", "url": "https://www.uniprot.org/uniprot/H3BQ21", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BQ21-1", "url": "https://www.uniprot.org/uniprot/H3BQ21-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BRP9", "url": "https://www.uniprot.org/uniprot/H3BRP9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BRP9-1", "url": "https://www.uniprot.org/uniprot/H3BRP9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSK5", "url": "https://www.uniprot.org/uniprot/H3BSK5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSK5-1", "url": "https://www.uniprot.org/uniprot/H3BSK5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTT9", "url": "https://www.uniprot.org/uniprot/H3BTT9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTT9-1", "url": "https://www.uniprot.org/uniprot/H3BTT9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BU43", "url": "https://www.uniprot.org/uniprot/H3BU43", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BU43-1", "url": "https://www.uniprot.org/uniprot/H3BU43-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUW0", "url": "https://www.uniprot.org/uniprot/H3BUW0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BUW0-1", "url": "https://www.uniprot.org/uniprot/H3BUW0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H9KV29", "url": "https://www.uniprot.org/uniprot/H9KV29", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H9KV29-1", "url": "https://www.uniprot.org/uniprot/H9KV29-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00241", "url": "https://www.uniprot.org/uniprot/O00241", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00241-1", "url": "https://www.uniprot.org/uniprot/O00241-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00241-2", "url": "https://www.uniprot.org/uniprot/O00241-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TFQ8", "url": "https://www.uniprot.org/uniprot/Q5TFQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TFQ8-1", "url": "https://www.uniprot.org/uniprot/Q5TFQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPVPASWPHLPSPFLLMTLLLGRLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYNQKEGHFPRVTTVSELTKRNNLDFSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVRAKPSAPVVSGPAVRATPEHTVSFTCESHGFSPRDITLKWFKNGNELSDFQTNVDPAGDSVSYSIHSTARVVLTRGDVHSQVICEIAHITLQGDPLRGTANLSEAIRVPPTLEVTQQPMRAENQANVTCQVSNFYPRGLQLTWLENGNVSRTETASTLIENKDGTYNWMSWLLVNTCAHRDDVVLTCQVEHDGQQAVSKSYALEISAHQKEHGSDITHEAALAPTAPLLVALLLGPKLLLVVGVSAIYICWKQKA", "length": 398, "header": "sp|O00241-1|SIRB1_HUMAN Isoform 1 of Signal-regulatory protein beta-1 OS=Homo sapiens OX=9606 GN=SIRPB1 PE=1 SV=5 CANONICAL=O00241-1" }, "isoforms": [ { "isoform_ac": "H3BQ21-1", "url": "", "sequence": { "sequence": "HTVSFTCESHGFSPRDITLKWFKNGNELSDFQTNVDPAGDSVSYSIHSTAKVVLTREDVHSQVICEVAHVTLQGDPLRGTANLSETIRVPPTLEVTQQPVRAENQVNVTCQVRKFYPQRLQLTWLENGNVSRTETASTLTENKDGTYNWMSWLLVNVSAHRDDVKLTCQVEHDGQPAVSKSHDLKVSAHPKEQGSNTAPGPALASAAPLLIAFLLGPKVLLVVGVSVIYVYWKQKA", "length": 236, "header": "tr|H3BQ21-1|H3BQ21_HUMAN Computationally mapped isoform of Signal regulatory protein beta 1 OS=Homo sapiens OX=9606 GN=SIRPB1 PE=1 SV=1 CANONICAL=O00241-1" }, "locus": { "chromosome": "20", "start_pos": 1605006, "end_pos": 1598827, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562014.5", "url": "https://www.ensembl.org/id/ENST00000562014.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455568.1", "url": "https://www.ensembl.org/id/ENSP00000455568.1" } ] } }, { "isoform_ac": "H3BRP9-1", "url": "", "sequence": { "sequence": "MPVPASWPHPPCPFLLLTLLLGLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYNQKEGHFPRVTTVSELTKRNNLDFSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVREAALAPTAPLLVA", "length": 156, "header": "tr|H3BRP9-1|H3BRP9_HUMAN Computationally mapped isoform of Signal regulatory protein beta 1 OS=Homo sapiens OX=9606 GN=SIRPB1 PE=4 SV=1 CANONICAL=O00241-1" }, "locus": { "chromosome": "20", "start_pos": 1588632, "end_pos": 1566230, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563840.1", "url": "https://www.ensembl.org/id/ENST00000563840.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000456351.1", "url": "https://www.ensembl.org/id/ENSP00000456351.1" } ] } }, { "isoform_ac": "H3BSK5-1", "url": "", "sequence": { "sequence": "XPPTLEVTQQPVRAENQVNVTCQVRKFYPQRLQLTWLENGNVSRTETASTLTENKDGTYNWMSWLLVNVSAHRDDVKLTCQVEHDGQPAVSKSHDLKVSAHPKEQGSNTAPVSLEFYRRGNQDLGSNGGYC", "length": 131, "header": "tr|H3BSK5-1|SIRB1_HUMAN Computationally mapped isoform of Signal-regulatory protein beta-1 OS=Homo sapiens OX=9606 GN=SIRPB1 PE=1 SV=1 CANONICAL=O00241-1" }, "locus": { "chromosome": "20", "start_pos": 1604142, "end_pos": 1603148, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565230.5", "url": "https://www.ensembl.org/id/ENST00000565230.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456747.1", "url": "https://www.ensembl.org/id/ENSP00000456747.1" } ] } }, { "isoform_ac": "H3BTT9-1", "url": "", "sequence": { "sequence": "RKGSPDHVEFKSGAGTELSVREAALAPTAPLLVALLLGPKLLLVVGVSAIYICWKQKA", "length": 58, "header": "tr|H3BTT9-1|H3BTT9_HUMAN Computationally mapped isoform of Signal regulatory protein beta 1 OS=Homo sapiens OX=9606 GN=SIRPB1 PE=1 SV=1 CANONICAL=O00241-1" }, "locus": { "chromosome": "20", "start_pos": 1611420, "end_pos": 1566158, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569629.1", "url": "https://www.ensembl.org/id/ENST00000569629.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457323.1", "url": "https://www.ensembl.org/id/ENSP00000457323.1" } ] } }, { "isoform_ac": "H3BU43-1", "url": "", "sequence": { "sequence": "HRDDVKLTCQVEHDGQPAVSKSHDLKVSAHPKEQGSNTAPGPALASAAPLLIAFLLGPKVLLVVGVSVIYVYWKQKA", "length": 77, "header": "tr|H3BU43-1|H3BU43_HUMAN Computationally mapped isoform of Signal regulatory protein beta 1 OS=Homo sapiens OX=9606 GN=SIRPB1 PE=1 SV=1 CANONICAL=O00241-1" }, "locus": { "chromosome": "20", "start_pos": 1603930, "end_pos": 1598827, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566055.5", "url": "https://www.ensembl.org/id/ENST00000566055.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457458.1", "url": "https://www.ensembl.org/id/ENSP00000457458.1" } ] } }, { "isoform_ac": "H3BUW0-1", "url": "", "sequence": { "sequence": "GNELSDFQTNVDPAGDSVSYSIHSTARVVLTRGDVHSQVICEIAHITLQGDPLRGTANLSEAIRVPPTLEVTQQPMRAENQANVTCQVSNFYPRGLQLTWLENGNVSRTETASTLIENKDGTYNWMSWLLVNTCAHRDDVVLTCQVEHDGQQAVSKSYALEISAHQKEHGSDITHGAVTSHF", "length": 182, "header": "tr|H3BUW0-1|H3BUW0_HUMAN Computationally mapped isoform of Signal regulatory protein beta 1 OS=Homo sapiens OX=9606 GN=SIRPB1 PE=1 SV=1 CANONICAL=O00241-1" }, "locus": { "chromosome": "20", "start_pos": 1571912, "end_pos": 1570785, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565076.1", "url": "https://www.ensembl.org/id/ENST00000565076.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000457829.1", "url": "https://www.ensembl.org/id/ENSP00000457829.1" } ] } }, { "isoform_ac": "H9KV29-1", "url": "", "sequence": { "sequence": "MPVPASWPHPPCPFLLLTLLLGLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYNQKEGHFPRVTTVSELTKRNNLDFSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVREAALAPTAPLLVALLLGPKLLLVVGVSAIYICWKQKA", "length": 180, "header": "tr|H9KV29-1|SIRB1_HUMAN Computationally mapped isoform of Signal-regulatory protein beta-1 OS=Homo sapiens OX=9606 GN=SIRPB1 PE=1 SV=1 CANONICAL=O00241-1" }, "locus": { "chromosome": "20", "start_pos": 1588632, "end_pos": 1566158, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262929.9", "url": "https://www.ensembl.org/id/ENST00000262929.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000262929.5", "url": "https://www.ensembl.org/id/ENSP00000262929.5" } ] } }, { "isoform_ac": "O00241-1", "url": "", "sequence": { "sequence": "MPVPASWPHLPSPFLLMTLLLGRLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYNQKEGHFPRVTTVSELTKRNNLDFSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVRAKPSAPVVSGPAVRATPEHTVSFTCESHGFSPRDITLKWFKNGNELSDFQTNVDPAGDSVSYSIHSTARVVLTRGDVHSQVICEIAHITLQGDPLRGTANLSEAIRVPPTLEVTQQPMRAENQANVTCQVSNFYPRGLQLTWLENGNVSRTETASTLIENKDGTYNWMSWLLVNTCAHRDDVVLTCQVEHDGQQAVSKSYALEISAHQKEHGSDITHEAALAPTAPLLVALLLGPKLLLVVGVSAIYICWKQKA", "length": 398, "header": "sp|O00241-1|SIRB1_HUMAN Isoform 1 of Signal-regulatory protein beta-1 OS=Homo sapiens OX=9606 GN=SIRPB1 PE=1 SV=5 CANONICAL=O00241-1" }, "locus": { "chromosome": "20", "start_pos": 1619944, "end_pos": 1566158, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381605.9", "url": "https://www.ensembl.org/id/ENST00000381605.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000371018.5", "url": "https://www.ensembl.org/id/ENSP00000371018.5" } ] } }, { "isoform_ac": "O00241-2", "url": "", "sequence": { "sequence": "MPVPASWPHLPSPFLLMTLLLGRLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYNQKEGHFPRVTTVSELTKRNNLDFSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVREAALAPTAPLLVALLLGPKLLLVVGVSAIYICWKQKA", "length": 181, "header": "sp|O00241-2|SIRB1_HUMAN Isoform 2 of Signal-regulatory protein beta-1 OS=Homo sapiens OX=9606 GN=SIRPB1 PE=1 SV=5 CANONICAL=O00241-1" }, "locus": { "chromosome": "20", "start_pos": 1619944, "end_pos": 1566158, "strand": "+", "evidence": [ { 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Immunol.", "date": "2000", "authors": "Tomasello E, Cant C, Buhring HJ, Vely F, Andre P, Seiffert M, Ullrich A, Vivier E", "evidence": [ { "database": "UniProtKB", "id": "O00241", "url": "https://www.uniprot.org/uniprot/O00241" }, { "database": "Reactome", "id": "R-HSA-2172127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2172127" } ], "reference": [ { "type": "PubMed", "id": "10940905", "url": "https://glygen.org/publication/PubMed/10940905" } ] }, { "title": "A DAP12-mediated pathway regulates expression of CC chemokine receptor 7 and maturation of human dendritic cells.", "journal": "The Journal of experimental medicine", "date": "2001", "authors": "Bouchon A, Hernandez-Munain C, Cella M, Colonna M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2172127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2172127" } ], "reference": [ { "type": "PubMed", "id": "11602640", "url": "https://glygen.org/publication/PubMed/11602640" } ] }, { "title": "SHPS-1, a multifunctional transmembrane glycoprotein.", "journal": "FEBS letters", "date": "2002", "authors": "Oshima K, Ruhul Amin AR, Suzuki A, Hamaguchi M, Matsuda S", "evidence": [ { "database": "Reactome", "id": "R-HSA-391160", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-391160" } ], "reference": [ { "type": "PubMed", "id": "12023008", "url": "https://glygen.org/publication/PubMed/12023008" } ] }, { "title": "Crystal structure of the human natural killer cell activating receptor KIR2DS2 (CD158j).", "journal": "The Journal of experimental medicine", "date": "2003", "authors": "Saulquin X, Gastinel LN, Vivier E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2172127", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2172127" } ], "reference": [ { "type": "PubMed", "id": "12668644", "url": "https://glygen.org/publication/PubMed/12668644" } ] }, { "title": "TREMs in the immune system and beyond.", "journal": "Nature reviews. 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