{ "uniprot_canonical_ac": "P03971-1", "uniprot_ac": "P03971", "uniprot_id": "MIS_HUMAN", "mass": { "chemical_mass": 59195.0, "monoisotopic_mass": 59195.0 }, "refseq": { "ac": "NP_000470", "name": "muellerian-inhibiting factor preproprotein", "summary": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000470" }, "gene_names": [ { "name": "AMH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P03971", "id": "P03971" }, { "name": "AMH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000470", "id": "NP_000470" }, { "name": "MIF; MIS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000470", "id": "NP_000470" }, { "name": "MIF", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P03971", "id": "P03971" } ], "protein_names": [ { "name": "Muellerian-inhibiting factor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P03971" }, { "name": "AMH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03971" }, { "name": "Anti-Muellerian hormone", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03971" }, { "name": "MIS", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03971" }, { "name": "Muellerian-inhibiting substance", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P03971" }, { "name": "Mullerian inhibiting factor; Mullerian inhibiting substance; anti-Muellerian hormone; muellerian-inhibiting substance; muellerian-inhibiting factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000470", "id": "NP_000470" }, { "name": "muellerian-inhibiting factor preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000470", "id": "NP_000470" } ], "function": [ { "annotation": "Anti-Mullerian Hormone promotes human osteoblast differentiation and calcification by modulating osteogenic gene expression.", "evidence": [ { "database": "RefSeq", "id": "NP_000470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000470" }, { "database": "PubMed", "id": "37913790", "url": "https://glygen.org/publication/PubMed/37913790" } ] }, { "annotation": "Dose inhibin B or anti-Mullerian hormone relate to precocious puberty in girls? result of a systematic review and meta-analysis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000470" }, { "database": "PubMed", "id": "37996919", "url": "https://glygen.org/publication/PubMed/37996919" } ] }, { "annotation": "Plays an important role in several reproductive functions. Induces Muellerian duct regression during male fetal sexual differentiation (PubMed:3754790, PubMed:34155118, PubMed:8469238). Also plays a role in Leydig cell differentiation and function (By similarity). In female acts as a negative regulator of the primordial to primary follicle transition and decreases FSH sensitivity of growing follicles (PubMed:14742691). AMH signals by binding to a specific type-II receptor, AMHR2, that heterodimerizes with type-I receptors (ACVR1 and BMPR1A), and recruiting SMAD proteins that are translocated to the nucleus to regulate target gene expression (PubMed:20861221, PubMed:34155118).", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971#function" }, { "database": "PubMed", "id": "34155118", "url": "https://glygen.org/publication/PubMed/34155118" }, { "database": "PubMed", "id": "8469238", "url": "https://glygen.org/publication/PubMed/8469238" }, { "database": "PubMed", "id": "20861221", "url": "https://glygen.org/publication/PubMed/20861221" }, { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprot/P27106#function" }, { "database": "PubMed", "id": "3754790", "url": "https://glygen.org/publication/PubMed/3754790" }, { "database": "PubMed", "id": "14742691", "url": "https://glygen.org/publication/PubMed/14742691" } ] }, { "annotation": "The Association of Anti-Mullerian Hormone and Infertility Hormonal Imbalance with Polycystic Ovarian Syndrome Among Iraqi Patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000470" }, { "database": "PubMed", "id": "37859555", "url": "https://glygen.org/publication/PubMed/37859555" } ] }, { "annotation": "This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_000470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000470" } ] } ], "disease": [ { "disease_id": "DOID:0050791", "recommended_name": { "id": "DOID:0050791", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050791", "name": "persistent Mullerian duct syndrome", "description": "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male." }, "synonyms": [ { "id": "DOID:0050791", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050791", "name": "persistent Muellerian duct syndrome", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Mullerian duct syndrome", "description": "Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Mllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys." }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "PMDS", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Muellerian duct syndrome", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Mullerian derivatives", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Mullerian duct syndrome", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Mllerian derivatives", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent mullerian duct syndrome, type I", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent mullerian duct syndrome, type II", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "female genital ducts in otherwise normal Male", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "female genital ducts in otherwise normal male", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "hernia uteri inguinale", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent MULLERIAN duct syndrome, types I and II", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent Mllerian duct syndrome", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent mullerian duct syndrome, types 1 and 2", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "persistent oviduct syndrome", "description": "" }, { "id": "MONDO:0009857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009857", "name": "pseudohermaphroditism, Male internal", "description": "" }, { "id": "MIM:261550", "resource": "MIM", "url": "https://www.omim.org/entry/261550", "name": "Persistent Muellerian duct syndrome 1", "description": "Persistent Muellerian duct syndrome 1" } ], "evidence": [ { "id": "261550", "database": "MIM", "url": "https://www.omim.org/entry/261550" } ] } ], "snv": [ { "evidence": [ { "id": "rs182295886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182295886" }, { "id": "rs182295886", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182295886" }, { "id": "rs182295886", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182295886" }, { "id": "rs182295886", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs182295886#frequency_tab" }, { "id": "rs182295886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs182295886" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 106, "end_pos": 106, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTG->NTS).", "chr_id": "19", "chr_pos": "2249648", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.001997", "site_lbl": "G106", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770404493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770404493" }, { "id": "rs770404493", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770404493" }, { "id": "rs770404493", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770404493" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 331, "end_pos": 331, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NL*).", "chr_id": "19", "chr_pos": "2251266", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs556078854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556078854" }, { "id": "rs556078854", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs556078854" }, { "id": "rs556078854", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs556078854" }, { "id": "rs556078854", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs556078854#frequency_tab" }, { "id": "rs556078854", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs556078854" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 331, "end_pos": 331, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLP).", "chr_id": "19", "chr_pos": "2251265", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "S331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770404493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770404493" }, { "id": "rs770404493", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770404493" }, { "id": "rs770404493", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770404493" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 331, "end_pos": 331, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLW).", "chr_id": "19", "chr_pos": "2251266", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213765681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213765681" }, { "id": "rs1213765681", "database": "TOPMed", "url": 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n-glyco-sequon-gain (SLS->NLS).", "chr_id": "19", "chr_pos": "2251887", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S538", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1317219126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317219126" }, { "id": "rs1317219126", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317219126" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 64, "end_pos": 64, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->DGS).", "chr_id": "19", "chr_pos": "2249522", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N64", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1342660278", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342660278" }, { "id": "rs1342660278", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1342660278#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 66, "end_pos": 66, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGG).", "chr_id": "19", "chr_pos": "2249528", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S66", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs376657085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376657085" }, { "id": "rs376657085", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376657085" }, { "id": "rs376657085", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376657085#frequency_tab" }, { "id": "rs376657085", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376657085" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 66, "end_pos": 66, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGR).", "chr_id": "19", "chr_pos": "2249530", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S66", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 472, "end_pos": 472, "sequence_org": "R", "sequence_mut": "D", "comment": "Little effect on AMH signaling.", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" }, { "database": "PubMed", "id": "34155118", "url": "https://glygen.org/publication/PubMed/34155118" } ] }, { "start_pos": 478, "end_pos": 478, "sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes AMH signaling. Does not induce regression of the Muellerian duct.", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" }, { "database": "PubMed", "id": "34155118", "url": "https://glygen.org/publication/PubMed/34155118" } ] }, { "start_pos": 481, "end_pos": 481, "sequence_org": "E", "sequence_mut": "A", "comment": "Shows a slight decrease in AMH signaling. Affects slightly Mullerian duct regression.", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" }, { "database": "PubMed", "id": "34155118", "url": "https://glygen.org/publication/PubMed/34155118" } ] }, { "start_pos": 481, "end_pos": 481, "sequence_org": "E", "sequence_mut": "R", "comment": "Decreases AMH signaling.", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" }, { "database": "PubMed", "id": "34155118", "url": "https://glygen.org/publication/PubMed/34155118" } ] }, { "start_pos": 481, "end_pos": 481, "sequence_org": "E", "sequence_mut": "Y", "comment": "Decreases AMH signaling.", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" }, { "database": "PubMed", "id": "34155118", "url": "https://glygen.org/publication/PubMed/34155118" } ] }, { "start_pos": 484, "end_pos": 484, "sequence_org": "Q", "sequence_mut": "S", "comment": "Little effect on AMH signaling.", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" }, { "database": "PubMed", "id": "34155118", "url": "https://glygen.org/publication/PubMed/34155118" } ] }, { "start_pos": 534, "end_pos": 534, "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes AMH signaling.", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" }, { "database": "PubMed", "id": "34155118", "url": "https://glygen.org/publication/PubMed/34155118" } ] }, { "start_pos": 535, "end_pos": 535, "sequence_org": "L", "sequence_mut": "Y", "comment": "Little effect on AMH signaling.", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" }, { "database": "PubMed", "id": "34155118", "url": "https://glygen.org/publication/PubMed/34155118" } ] }, { "start_pos": 546, "end_pos": 546, "sequence_org": "A", "sequence_mut": "M", "comment": "Abolishes AMH signaling.", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" }, { "database": "PubMed", "id": "34155118", "url": "https://glygen.org/publication/PubMed/34155118" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "51.72", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000104899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104899" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "51.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000104899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104899" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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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": "P03971", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03971" } ], "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://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P03971" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P03971", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P03971" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 195, "end_pos": 195, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P03971", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P03971" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Tyr195" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "A SMAD ubiquitin ligase targets the BMP pathway and affects embryonic pattern formation.", "journal": 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YI, Knaus P", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "10712517", "url": "https://glygen.org/publication/PubMed/10712517" } ] }, { "title": "Smurf2 is a ubiquitin E3 ligase mediating proteasome-dependent degradation of Smad2 in transforming growth factor-beta signaling.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Lin X, Liang M, Feng XH", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "11016919", "url": "https://glygen.org/publication/PubMed/11016919" } ] }, { "title": "Ski represses bone morphogenic protein signaling in Xenopus and mammalian cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Wang W, Mariani FV, Harland 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"title": "Human type II receptor for bone morphogenic proteins (BMPs): extension of the two-kinase receptor model to the BMPs.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "Liu F, Ventura F, Doody J, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "7791754", "url": "https://glygen.org/publication/PubMed/7791754" } ] }, { "title": "A novel member of the transmembrane serine/threonine kinase receptor family is specifically expressed in the gonads and in mesenchymal cells adjacent to the mullerian duct.", "journal": "Development (Cambridge, England)", "date": "1994", "authors": "Baarends WM, van Helmond MJ, Post M, van der Schoot PJ, Hoogerbrugge JW, de Winter JP, Uilenbroek JT, Karels B, Wilming LG, Meijers JH, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": 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"database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "reference": [ { "type": "PubMed", "id": "8469238", "url": "https://glygen.org/publication/PubMed/8469238" } ] }, { "title": "MADR1, a MAD-related protein that functions in BMP2 signaling pathways.", "journal": "Cell", "date": "1996", "authors": "Hoodless PA, Haerry T, Abdollah S, Stapleton M, O'Connor MB, Attisano L, Wrana JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "8653785", "url": "https://glygen.org/publication/PubMed/8653785" } ] }, { "title": "A 27 base-pair deletion of the anti-mullerian type II receptor gene is the most common cause of the persistent mullerian duct syndrome.", "journal": "Human molecular genetics", "date": "1996", "authors": "Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "reference": [ { "type": "PubMed", "id": "8872466", "url": "https://glygen.org/publication/PubMed/8872466" } ] }, { "title": "Partnership between DPC4 and SMAD proteins in TGF-beta signalling pathways.", "journal": "Nature", "date": "1996", "authors": "Lagna G, Hata A, Hemmati-Brivanlou A, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "8893010", "url": "https://glygen.org/publication/PubMed/8893010" } ] }, { "title": "The TGF-beta family mediator Smad1 is phosphorylated directly and activated functionally by the BMP receptor kinase.", "journal": "Genes & development", "date": "1997", "authors": "Kretzschmar M, Liu F, Hata A, Doody J, Massague J", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "9136927", "url": "https://glygen.org/publication/PubMed/9136927" } ] }, { "title": "Smad6 inhibits BMP/Smad1 signaling by specifically competing with the Smad4 tumor suppressor.", "journal": "Genes & development", "date": "1998", "authors": "Hata A, Lagna G, Massague J, Hemmati-Brivanlou A", "evidence": [ { "database": "Reactome", "id": "R-HSA-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201451" } ], "reference": [ { "type": "PubMed", "id": "9436979", "url": "https://glygen.org/publication/PubMed/9436979" } ] }, { "title": "Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Mullerian hormone gene.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, Scherer G, Poulat F, Berta P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9690406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9690406" } ], "reference": [ { "type": "PubMed", "id": "9774680", "url": "https://glygen.org/publication/PubMed/9774680" } ] }, { "title": "The Wilms' tumor gene WT1 can regulate genes involved in sex determination and differentiation: SRY, Mullerian-inhibiting substance, and the androgen receptor.", "journal": "Clinical cancer research : an official journal of the American Association for Cancer Research", "date": "1997", "authors": "Shimamura R, Fraizer GC, Trapman J, Lau YfC, Saunders GF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9690406", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9690406" } ], "reference": [ { "type": "PubMed", "id": "9815658", "url": "https://glygen.org/publication/PubMed/9815658" } ] } ], "pathway": [ { "id": "hsa:268", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:268", "resource": "KEGG Pathway" }, { "id": "R-HSA-201451", "name": "Signaling by BMP", "url": 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"MQGPHLSPLVLLLATMGAVLQPEAVENLATNTRGLIFLEDELWPPSSPPEPLCLVTVRGEGNTSRASLRVVGGLNSYEYAFLEAVQESRWGPQDLATFGVCSTDSQATLPALQRLGAWLGETGEQQLLVLHLAEVIWEPELLLKFQEPPPGGASRWEQALLVLYPGPGPQVTVTGTGLRGTQNLCPTRDTRYLVLTVDFPAGAWSGSGLILTLQPSREGATLSIDQLQAFLFGSDSRCFTRMTPTLVVLPPAEPSPQPAHGQLDTMPFPQPGLSLEPEALPHSADPFLETLTRLVRALRGPLTQASNTQLALDPGALASFPQGLVNLSDPAALGRLLDWEEPLLLLLSPAAATEREPMPLHGPASAPWAAGLQRRVAVELQAAASELRDLPGLPPTAPPLLARLLALCPNDSRSSGDPLRALLLLKALQGLRAEWHGREGRGRTGRSAGTGTDGPCALRELSVDLRAERSVLIPETYQANNCQGACAWPQSDRNPRYGNHVVLLLKMQARGAALGRLPCCVPTAYAGKLLISLSEERISAHHVPNMVATECGCV", "length": 554 }, "evidence": [ { "id": "45919587", "url": "http://www.informatics.jax.org/homology/45919587", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P49000-1", "protein_name": "Muellerian-inhibiting factor", "gene_name": "Amh", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MQGPHLSLLLLLLATMGAVLQADTVEELTNTRGLIFLEDGVWPPSSPPEPLCLVAVRGEGDTSKASLTVVGGLHSYEHAFLEAVQESRWGPQDLATFGVCSTDSQTTLPALQRLGAWLGETGEQQLLVLHLAEVIWEPQLLLKFQEPPPGGASRWEQALLVLYPGPGPQVTVTGAGLQGTQSLCPTRDTRYLVLTVHFPAGAWSGSGLALTLQPSKEGATLTIAQLQAFLFGSDSRCFTRMTPTLVLLPPTGPTPQPAHGQLDTVPFPQPGLSLEPEDLPHSADPFLETLTRLVRALRGPLTRASNTRLALDPGALASFPQGLVNLSDPVALGRLLDGEEPLLLLLSPAAATVGEPMRLHSPTSAPWAAGLARRVAVELQAAASELRDLPGLPPTAPPLLSRLLALCPNDSRSAGDPLRALLLLKALQGLRAEWRGREGRGRAGRSKGTGTDGLCALRELSVDLRAERSVLIPETYQANNCQGACAWPQSDRNPRYGNHVVLLLKMQARGAALGRLPCCVPTAYTGKLLISLSEEHISAHHVPNMVATECGCR", "length": 553 }, "evidence": [ { "id": "45919587", "url": "http://www.informatics.jax.org/homology/45919587", "database": "MGI" }, { "id": "P03971", "url": "https://omabrowser.org/oma/group/P03971/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 15, "go_terms": [ { "name": "sex determination", "id": "GO:0007530", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0014070", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "urogenital system development", "id": "GO:0001655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001655", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "Mullerian duct regression", "id": "GO:0001880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001880", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "sex differentiation", "id": "GO:0007548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007548", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "Leydig cell differentiation", "id": "GO:0033327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033327", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "gonadal mesoderm development", "id": "GO:0007506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007506", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "preantral ovarian follicle growth", "id": "GO:0001546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001546", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "anti-Mullerian hormone signaling pathway", "id": "GO:1990262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990262", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "type II transforming growth factor beta receptor binding", "id": "GO:0005114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005114", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "Muellerian-inhibiting factor O-glycosylated 1 (human)", "definition": "A Muellerian-inhibiting factor (human) that has been O-glycosylated at the residue equivalent to Thr-353 of the amino acid sequence represented by UniProtKB:P03971-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P03971-1, Thr-353, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053160", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053160" } ] }, { "name": "Muellerian-inhibiting factor O-glycosylated 2 (human)", "definition": "A Muellerian-inhibiting factor (human) that has been O-glycosylated at the residue equivalent to Thr-367 of the amino acid sequence represented by UniProtKB:P03971-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P03971-1, Thr-367, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053161", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053161" } ] } ], "site_annotation": [ { "start_pos": 329, "end_pos": 331, "annotation": "n_glycosylation_sequon" }, { "start_pos": 64, "end_pos": 66, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active non-covalent complex (PubMed:8469238, PubMed:2974034). Binding of the non-covalent complex to AMHR2 induces dissociation of the pro-region from the mature C-terminal dimer (PubMed:20861221). The N-terminal portion of the protein, despite having no intrinsic activity, has the role of amplifying the activity of the C-terminus (PubMed:20861221, PubMed:8469238).", "evidence": [ { "database": "UniProtKB", "id": "P03971", "url": "https://www.uniprot.org/uniprot/P03971" }, { "database": "PubMed", "id": "2974034", "url": "https://glygen.org/publication/PubMed/2974034" }, { "database": "PubMed", "id": "8469238", "url": "https://glygen.org/publication/PubMed/8469238" }, { "database": "PubMed", "id": "20861221", "url": "https://glygen.org/publication/PubMed/20861221" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 64, 329 ], "o_linked_sites": [ 353, 367 ], "snv_sites": [ 64, 66, 106, 331, 367, 538 ], "glycation_sites": [], "phosphorylation_sites": [ 195 ], "sequon_annotation_sites": [ { "start_pos": 329, "end_pos": 331 }, { "start_pos": 64, "end_pos": 66 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 54 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }