{ "uniprot_canonical_ac": "O43196-1", "uniprot_ac": "O43196", "uniprot_id": "MSH5_HUMAN", "mass": { "chemical_mass": 92875.0, "monoisotopic_mass": 92875.0 }, "refseq": { "ac": "NP_002432", "name": "mutS protein homolog 5 isoform c", "summary": "This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432" }, "gene_names": [ { "name": "MSH5-SAPCD1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43196", "id": "O43196" }, { "name": "MSH5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43196", "id": "O43196" }, { "name": "G7; MUTSH5; NG23; POF13; SPGF74", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432", "id": "NP_002432" }, { "name": "MSH5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432", "id": "NP_002432" }, { "name": "MSH5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43196", "id": "O43196" }, { "name": "hCG_2001570", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43196", "id": "O43196" } ], "protein_names": [ { "name": "MutS protein homolog 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43196" }, { "name": "hMSH5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43196" }, { "name": "mutS protein homolog 5 isoform c", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432", "id": "NP_002432" }, { "name": "mutS protein homolog 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432", "id": "NP_002432" } ], "function": [ { "annotation": "A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSgamma Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432" }, { "database": "PubMed", "id": "35742973", "url": "https://glygen.org/publication/PubMed/35742973" } ] }, { "annotation": "Component of the post-replicative DNA mismatch repair system (MMR).", "evidence": [ { "database": "UniProtKB", "id": "A0A024RCV8", "url": "https://www.uniprot.org/uniprot/A0A024RCV8#function" }, { "database": "UniProtKB", "id": "PIRNR005813", "url": "https://www.uniprot.org/uniprot/PIRNR005813#function" } ] }, { "annotation": "Data have identified the interaction region between the individual subunits of hMSH4-hMSH5 that are likely involved in clamp formation and show that each subunit of the heterodimer binds ATP.", "evidence": [ { "database": "RefSeq", "id": "NP_002432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432" }, { "database": "PubMed", "id": "17977839", "url": "https://glygen.org/publication/PubMed/17977839" } ] }, { "annotation": "Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43196", "url": "https://www.uniprot.org/uniprot/O43196#function" } ] }, { "annotation": "Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432" }, { "database": "PubMed", "id": "34980881", "url": "https://glygen.org/publication/PubMed/34980881" } ] }, { "annotation": "The different properties associated with these two hMSH5 variants underscore the potential functional diversity of the human hMSH5 gene. Erratum:[Biochem Biophys Res Commun. 2006 Feb 17;340(3):1018]", "evidence": [ { "database": "RefSeq", "id": "NP_002432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432" }, { "database": "PubMed", "id": "15907804", "url": "https://glygen.org/publication/PubMed/15907804" } ] }, { "annotation": "These findings suggest that Msh4/5 heterodimers contribute to class switch recombination.", "evidence": [ { "database": "RefSeq", "id": "NP_002432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432" }, { "database": "PubMed", "id": "17409188", "url": "https://glygen.org/publication/PubMed/17409188" } ] }, { "annotation": "This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_002432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002432" } ] } ], "disease": [ { "disease_id": "DOID:0080870", "recommended_name": { "id": "DOID:0080870", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080870", "name": "primary ovarian insufficiency 13", "description": "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21." }, "synonyms": [ { "id": "MONDO:0044317", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044317", "name": "premature ovarian failure 13", "description": "" }, { "id": "MONDO:0044317", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044317", "name": "premature ovarian failure 13", "description": "" }, { "id": "MONDO:0044317", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044317", "name": "POF13", "description": "" }, { "id": "MIM:617442", "resource": "MIM", "url": "https://www.omim.org/entry/617442", "name": "Premature ovarian failure 13", "description": "Premature ovarian failure 13" } ], "evidence": [ { "id": "617442", "database": "MIM", "url": "https://www.omim.org/entry/617442" } ] }, { "disease_id": "MONDO:0030972", "recommended_name": { "id": "MONDO:0030972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030972", "name": "spermatogenic failure 74", "description": "" }, "synonyms": [ { "id": "MONDO:0030972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030972", "name": "SPGF74", "description": "" }, { "id": "MONDO:0030972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030972", "name": "spermatogenic failure 74", "description": "" }, { "id": "MIM:619937", "resource": "MIM", "url": "https://www.omim.org/entry/619937", "name": "Spermatogenic failure 74", "description": "Spermatogenic failure 74" } ], "evidence": [ { "id": "619937", "database": "MIM", "url": "https://www.omim.org/entry/619937" } ] } ], "snv": [ { "evidence": [ { "id": "O43196", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43196" } ], "glycoeffect": [], "start_pos": 112, "end_pos": 112, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "31742940", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R112", "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": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "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 is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O43196", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43196" } ], "glycoeffect": [], "start_pos": 634, "end_pos": 634, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "6", "chr_pos": "31760778", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R634", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"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", 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"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": "O43196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43196" } ], "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": 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43196", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43196" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"url": "https://www.uniprot.org/uniprot/A0A140T940-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T967", "url": "https://www.uniprot.org/uniprot/A0A140T967", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T967-1", "url": "https://www.uniprot.org/uniprot/A0A140T967-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T982", "url": "https://www.uniprot.org/uniprot/A0A140T982", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T982-1", "url": "https://www.uniprot.org/uniprot/A0A140T982-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9A7", "url": "https://www.uniprot.org/uniprot/A0A140T9A7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9A7-1", "url": "https://www.uniprot.org/uniprot/A0A140T9A7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9E5", "url": "https://www.uniprot.org/uniprot/A0A140T9E5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9E5-1", "url": "https://www.uniprot.org/uniprot/A0A140T9E5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9I9", "url": "https://www.uniprot.org/uniprot/A0A140T9I9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9I9-1", "url": "https://www.uniprot.org/uniprot/A0A140T9I9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9J3", "url": "https://www.uniprot.org/uniprot/A0A140T9J3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9J3-1", "url": "https://www.uniprot.org/uniprot/A0A140T9J3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9P6", "url": "https://www.uniprot.org/uniprot/A0A140T9P6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9P6-1", "url": "https://www.uniprot.org/uniprot/A0A140T9P6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9W0", "url": "https://www.uniprot.org/uniprot/A0A140T9W0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9W0-1", "url": "https://www.uniprot.org/uniprot/A0A140T9W0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9X1", "url": "https://www.uniprot.org/uniprot/A0A140T9X1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9X1-1", "url": "https://www.uniprot.org/uniprot/A0A140T9X1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9Z5", "url": "https://www.uniprot.org/uniprot/A0A140T9Z5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140T9Z5-1", "url": "https://www.uniprot.org/uniprot/A0A140T9Z5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA06", "url": "https://www.uniprot.org/uniprot/A0A140TA06", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A140TA06-1", "url": "https://www.uniprot.org/uniprot/A0A140TA06-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0L0", "url": "https://www.uniprot.org/uniprot/A0A494C0L0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A494C0L0-1", "url": "https://www.uniprot.org/uniprot/A0A494C0L0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2ABE9", "url": "https://www.uniprot.org/uniprot/A2ABE9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2ABE9-1", "url": "https://www.uniprot.org/uniprot/A2ABE9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2ABF0", "url": "https://www.uniprot.org/uniprot/A2ABF0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2ABF0-1", "url": "https://www.uniprot.org/uniprot/A2ABF0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2ABF1", "url": "https://www.uniprot.org/uniprot/A2ABF1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2ABF1-1", "url": "https://www.uniprot.org/uniprot/A2ABF1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDS7", "url": "https://www.uniprot.org/uniprot/H0YDS7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YDS7-1", "url": "https://www.uniprot.org/uniprot/H0YDS7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEB2", "url": "https://www.uniprot.org/uniprot/H0YEB2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YEB2-1", "url": "https://www.uniprot.org/uniprot/H0YEB2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YF11", "url": "https://www.uniprot.org/uniprot/H0YF11", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YF11-1", "url": "https://www.uniprot.org/uniprot/H0YF11-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2J4", "url": "https://www.uniprot.org/uniprot/H7C2J4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2J4-1", "url": "https://www.uniprot.org/uniprot/H7C2J4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C572", "url": "https://www.uniprot.org/uniprot/H7C572", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C572-1", "url": "https://www.uniprot.org/uniprot/H7C572-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5D6", "url": "https://www.uniprot.org/uniprot/H7C5D6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C5D6-1", "url": "https://www.uniprot.org/uniprot/H7C5D6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43196", "url": "https://www.uniprot.org/uniprot/O43196", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43196-1", "url": "https://www.uniprot.org/uniprot/O43196-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43196-2", "url": "https://www.uniprot.org/uniprot/O43196-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43196-3", "url": "https://www.uniprot.org/uniprot/O43196-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43196-4", "url": "https://www.uniprot.org/uniprot/O43196-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5SSR2", "url": "https://www.uniprot.org/uniprot/Q5SSR2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5SSR2-1", "url": "https://www.uniprot.org/uniprot/Q5SSR2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 834, "header": "sp|O43196-1|MSH5_HUMAN Isoform 1 of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "isoforms": [ { "isoform_ac": "A0A024RCV8-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTPPGDLRFTPIPLLIPSQVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 851, "header": "tr|A0A024RCV8-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "6", "start_pos": 31762528, "end_pos": 31740467, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000493662", "url": "https://www.ensembl.org/id/ENST00000493662" }, { "database": "Ensembl Peptide", "id": "ENSP00000417871", "url": "https://www.ensembl.org/id/ENSP00000417871" } ] } }, { "isoform_ac": "A0A0G2JHB4-1", "url": "", "sequence": { "sequence": "TVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 497, "header": "tr|A0A0G2JHB4-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_SSTO_CTG1", "start_pos": 31753285, "end_pos": 31748922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426512.5", "url": "https://www.ensembl.org/id/ENST00000426512.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409866.1", "url": "https://www.ensembl.org/id/ENSP00000409866.1" } ] } }, { "isoform_ac": "A0A0G2JI09-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQR", "length": 90, "header": "tr|A0A0G2JI09-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_SSTO_CTG1", "start_pos": 31732047, "end_pos": 31731229, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000480377.5", "url": "https://www.ensembl.org/id/ENST00000480377.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443668.1", "url": "https://www.ensembl.org/id/ENSP00000443668.1" } ] } }, { "isoform_ac": "A0A0G2JIC1-1", "url": "", "sequence": { "sequence": "TVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVYLSPQVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLG", "length": 158, "header": "tr|A0A0G2JIC1-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_APD_CTG1", "start_pos": 31826509, "end_pos": 31825184, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456436.5", "url": "https://www.ensembl.org/id/ENST00000456436.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000397187.1", "url": "https://www.ensembl.org/id/ENSP00000397187.1" } ] } }, { "isoform_ac": "A0A0G2JJ70-1", "url": "", "sequence": { "sequence": "TVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 496, "header": "tr|A0A0G2JJ70-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_APD_CTG1", "start_pos": 31829547, "end_pos": 31825184, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414810.5", "url": "https://www.ensembl.org/id/ENST00000414810.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402188.1", "url": "https://www.ensembl.org/id/ENSP00000402188.1" } ] } }, { "isoform_ac": "A0A0G2JK42-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYL", "length": 727, "header": "tr|A0A0G2JK42-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_QBL_CTG1", "start_pos": 31751845, "end_pos": 31730693, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000458058.5", "url": "https://www.ensembl.org/id/ENST00000458058.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413831.1", "url": "https://www.ensembl.org/id/ENSP00000413831.1" } ] } }, { "isoform_ac": "A0A0G2JK88-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTPPGDLRFTPIPLLIPSQVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 821, "header": "tr|A0A0G2JK88-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_COX_CTG1", "start_pos": 31749904, "end_pos": 31727866, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000458144.5", "url": "https://www.ensembl.org/id/ENST00000458144.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000414937.1", "url": "https://www.ensembl.org/id/ENSP00000414937.1" } ] } }, { "isoform_ac": "A0A140T927-1", "url": "", "sequence": { "sequence": "TVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 467, "header": "tr|A0A140T927-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_SSTO_CTG1", "start_pos": 31753285, "end_pos": 31748922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444225.5", "url": "https://www.ensembl.org/id/ENST00000444225.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000389840.1", "url": "https://www.ensembl.org/id/ENSP00000389840.1" } ] } }, { "isoform_ac": "A0A140T940-1", "url": "", "sequence": { "sequence": "IAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMVRPSTSVR", "length": 115, "header": "tr|A0A140T940-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_QBL_CTG1", "start_pos": 31749431, "end_pos": 31748467, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446724.1", "url": "https://www.ensembl.org/id/ENST00000446724.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000391330.1", "url": "https://www.ensembl.org/id/ENSP00000391330.1" } ] } }, { "isoform_ac": "A0A140T967-1", "url": "", "sequence": { "sequence": "GYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYL", "length": 135, "header": "tr|A0A140T967-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_QBL_CTG1", "start_pos": 31751845, "end_pos": 31750147, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430241.5", "url": "https://www.ensembl.org/id/ENST00000430241.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000393445.1", "url": "https://www.ensembl.org/id/ENSP00000393445.1" } ] } }, { "isoform_ac": "A0A140T982-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTPPGDLRFTPIPLLIPSQVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYL", "length": 745, "header": "tr|A0A140T982-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_QBL_CTG1", "start_pos": 31751845, "end_pos": 31730693, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457917.6", "url": "https://www.ensembl.org/id/ENST00000457917.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000394619.2", "url": "https://www.ensembl.org/id/ENSP00000394619.2" } ] } }, { "isoform_ac": "A0A140T9A7-1", "url": "", "sequence": { "sequence": "KILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLL", "length": 107, "header": "tr|A0A140T9A7-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_MANN_CTG1", "start_pos": 31786878, "end_pos": 31783416, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453872.1", "url": "https://www.ensembl.org/id/ENST00000453872.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000397355.1", "url": "https://www.ensembl.org/id/ENSP00000397355.1" } ] } }, { "isoform_ac": "A0A140T9E5-1", "url": "", "sequence": { "sequence": "HESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTIPSQVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYRNPQQMPL", "length": 158, "header": "tr|A0A140T9E5-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_QBL_CTG1", "start_pos": 31737640, "end_pos": 31731485, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456073.5", "url": "https://www.ensembl.org/id/ENST00000456073.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000399898.1", "url": "https://www.ensembl.org/id/ENSP00000399898.1" } ] } }, { "isoform_ac": "A0A140T9I9-1", "url": "", "sequence": { "sequence": "TVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 466, "header": "tr|A0A140T9I9-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_APD_CTG1", "start_pos": 31829547, "end_pos": 31825184, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000458424.5", "url": "https://www.ensembl.org/id/ENST00000458424.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000403809.1", "url": "https://www.ensembl.org/id/ENSP00000403809.1" } ] } }, { "isoform_ac": "A0A140T9J3-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYL", "length": 728, "header": "tr|A0A140T9J3-1|A0A140T9J3_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_QBL_CTG1", "start_pos": 31751845, "end_pos": 31730693, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416819.6", "url": "https://www.ensembl.org/id/ENST00000416819.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000405073.2", "url": "https://www.ensembl.org/id/ENSP00000405073.2" } ] } }, { "isoform_ac": "A0A140T9P6-1", "url": "", "sequence": { "sequence": "MWPVLLFVFLSQTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYL", "length": 401, "header": "tr|A0A140T9P6-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_QBL_CTG1", "start_pos": 31751845, "end_pos": 31748359, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412975.5", "url": "https://www.ensembl.org/id/ENST00000412975.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000409468.1", "url": "https://www.ensembl.org/id/ENSP00000409468.1" } ] } }, { "isoform_ac": "A0A140T9W0-1", "url": "", "sequence": { "sequence": "TAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYL", "length": 65, "header": "tr|A0A140T9W0-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_QBL_CTG1", "start_pos": 31751845, "end_pos": 31751442, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445511.1", "url": "https://www.ensembl.org/id/ENST00000445511.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000415294.1", "url": "https://www.ensembl.org/id/ENSP00000415294.1" } ] } }, { "isoform_ac": "A0A140T9X1-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTPPGDLRFTPIPLLIPSQVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLL", "length": 287, "header": "tr|A0A140T9X1-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_MANN_CTG1", "start_pos": 31786878, "end_pos": 31779921, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443040.5", "url": "https://www.ensembl.org/id/ENST00000443040.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000415811.1", "url": "https://www.ensembl.org/id/ENSP00000415811.1" } ] } }, { "isoform_ac": "A0A140T9Z5-1", "url": "", "sequence": { "sequence": "TVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVKSED", "length": 47, "header": "tr|A0A140T9Z5-1|A0A140T9Z5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=4 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_SSTO_CTG1", "start_pos": 31749534, "end_pos": 31748922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462922.5", "url": "https://www.ensembl.org/id/ENST00000462922.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431393.1", "url": "https://www.ensembl.org/id/ENSP00000431393.1" } ] } }, { "isoform_ac": "A0A140TA06-1", "url": "", "sequence": { "sequence": "MPLHSRWSLLMNLEREPTRWMGSRFWPLCSDTGWHVDPHAPTSLWPPTF", "length": 49, "header": "tr|A0A140TA06-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_SSTO_CTG1", "start_pos": 31752319, "end_pos": 31751964, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000492052.5", "url": "https://www.ensembl.org/id/ENST00000492052.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433922.1", "url": "https://www.ensembl.org/id/ENSP00000433922.1" } ] } }, { "isoform_ac": "A0A494C0L0-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEII", "length": 131, "header": "tr|A0A494C0L0-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "6", "start_pos": 31743148, "end_pos": 31740467, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652715.1", "url": "https://www.ensembl.org/id/ENST00000652715.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498591.1", "url": "https://www.ensembl.org/id/ENSP00000498591.1" } ] } }, { "isoform_ac": "A2ABE9-1", "url": "", "sequence": { "sequence": "KILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVYLSPQVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLG", "length": 333, "header": "tr|A2ABE9-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_MCF_CTG1", "start_pos": 31835786, "end_pos": 31820257, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443665.5", "url": "https://www.ensembl.org/id/ENST00000443665.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000396934.1", "url": "https://www.ensembl.org/id/ENSP00000396934.1" } ] } }, { "isoform_ac": "A2ABF0-1", "url": "", "sequence": { "sequence": "MWPVLLFVFLSQTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 508, "header": "tr|A2ABF0-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_SSTO_CTG1", "start_pos": 31753285, "end_pos": 31748886, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448169.5", "url": "https://www.ensembl.org/id/ENST00000448169.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000400820.1", "url": "https://www.ensembl.org/id/ENSP00000400820.1" } ] } }, { "isoform_ac": "A2ABF1-1", "url": "", "sequence": { "sequence": "TAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 156, "header": "tr|A2ABF1-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_COX_CTG1", "start_pos": 31749904, "end_pos": 31748588, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457795.1", "url": "https://www.ensembl.org/id/ENST00000457795.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000413269.1", "url": "https://www.ensembl.org/id/ENSP00000413269.1" } ] } }, { "isoform_ac": "H0YDS7-1", "url": "", "sequence": { "sequence": "GYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLDWPRVSGQEGGLRRCCEGQPCLPHSCPGWAS", "length": 166, "header": "tr|H0YDS7-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "6", "start_pos": 31761927, "end_pos": 31759917, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000484309.5", "url": "https://www.ensembl.org/id/ENST00000484309.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000420232.1", "url": "https://www.ensembl.org/id/ENSP00000420232.1" } ] } }, { "isoform_ac": "H0YEB2-1", "url": "", "sequence": { "sequence": "XMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 29, "header": "tr|H0YEB2-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_APD_CTG1", "start_pos": 31829549, "end_pos": 31829463, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000487383.1", "url": "https://www.ensembl.org/id/ENST00000487383.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463231.1", "url": "https://www.ensembl.org/id/ENSP00000463231.1" } ] } }, { "isoform_ac": "H0YF11-1", "url": "", "sequence": { "sequence": "XHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLDWPRVSGQEGGD", "length": 264, "header": "tr|H0YF11-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_APD_CTG1", "start_pos": 31828806, "end_pos": 31826464, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000492776.5", "url": "https://www.ensembl.org/id/ENST00000492776.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000461962.1", "url": "https://www.ensembl.org/id/ENSP00000461962.1" } ] } }, { "isoform_ac": "H7C2J4-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQLRIHLPWPLHLHDRPQPGGESSEQCHCTVAGPY", "length": 637, "header": "tr|H7C2J4-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "6", "start_pos": 31761234, "end_pos": 31740467, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423982.6", "url": "https://www.ensembl.org/id/ENST00000423982.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000406352.2", "url": "https://www.ensembl.org/id/ENSP00000406352.2" } ] } }, { "isoform_ac": "H7C572-1", "url": "", "sequence": { "sequence": "XRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYRNPQQMPL", "length": 43, "header": "tr|H7C572-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "6", "start_pos": 31747410, "end_pos": 31744231, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000497269.5", "url": "https://www.ensembl.org/id/ENST00000497269.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419131.1", "url": "https://www.ensembl.org/id/ENSP00000419131.1" } ] } }, { "isoform_ac": "H7C5D6-1", "url": "", "sequence": { "sequence": "XDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYRNPQQMPL", "length": 159, "header": "tr|H7C5D6-1|MSH5_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "6", "start_pos": 31747410, "end_pos": 31741246, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000463144.5", "url": "https://www.ensembl.org/id/ENST00000463144.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419648.1", "url": "https://www.ensembl.org/id/ENSP00000419648.1" } ] } }, { "isoform_ac": "O43196-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 834, "header": "sp|O43196-1|MSH5_HUMAN Isoform 1 of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "CHR_HSCHR6_MHC_DBB_CTG1", "start_pos": 31744709, "end_pos": 31722640, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427735.5", "url": "https://www.ensembl.org/id/ENST00000427735.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388037.1", "url": "https://www.ensembl.org/id/ENSP00000388037.1" } ] } }, { "isoform_ac": "O43196-2", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 835, "header": "sp|O43196-2|MSH5_HUMAN Isoform 2 of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "6", "start_pos": 31762528, "end_pos": 31740467, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000375703.7", "url": "https://www.ensembl.org/id/ENST00000375703.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000364855.3", "url": "https://www.ensembl.org/id/ENSP00000364855.3" } ] } }, { "isoform_ac": "O43196-3", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTPPGDLRFTPIPLLIPSQVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 851, "header": "sp|O43196-3|MSH5_HUMAN Isoform 3 of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": {} }, { "isoform_ac": "O43196-4", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTPPGDLRFTPIPLLIPSQVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTHLVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTRPTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQVLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENRFTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIPRLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQLQCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLMELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAEIGAVDAIFTRIHSCESISLGLSTFMIDLNQQVAKAVNNATAQSLVLIDEFGKGTNTVDGLALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVFFYQVSDLIRSGKPIKPVKDLLKKNQMENCQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL", "length": 822, "header": "sp|O43196-4|MSH5_HUMAN Isoform 4 of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "6", "start_pos": 31762528, "end_pos": 31740467, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000375740.7", "url": "https://www.ensembl.org/id/ENST00000375740.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000364892.3", "url": "https://www.ensembl.org/id/ENSP00000364892.3" } ] } }, { "isoform_ac": "Q5SSR2-1", "url": "", "sequence": { "sequence": "MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEEEELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVTSAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMTATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRR", "length": 194, "header": "tr|Q5SSR2-1|Q5SSR2_HUMAN Computationally mapped isoform of MutS protein homolog 5 OS=Homo sapiens OX=9606 GN=MSH5 PE=1 SV=1 CANONICAL=O43196-1" }, "locus": { "chromosome": "6", "start_pos": 31744234, "end_pos": 31740467, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425703.5", "url": "https://www.ensembl.org/id/ENST00000425703.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402842.1", "url": "https://www.ensembl.org/id/ENSP00000402842.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 742, "end_pos": 742, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43196", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43196" }, { "database": "PubMed", "id": "22401567", "url": "https://glygen.org/publication/PubMed/22401567" } ], "site_lbl": "Tyr742" } ], "glycation": [], "keywords": [], "publication": [ { "title": "hMSH5: a human MutS homologue that forms a novel heterodimer with hMSH4 and is expressed during spermatogenesis.", "journal": "Cancer Res.", "date": "1999", "authors": "Bocker T, Barusevicius A, Snowden T, Rasio D, Guerrette S, Robbins D, Schmidt C, Burczak J, Croce CM, Copeland T, Kovatich AJ, Fishel R", "evidence": [ { "database": "UniProtKB", "id": "O43196", "url": "https://www.uniprot.org/uniprot/O43196" }, { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10029069", "url": "https://glygen.org/publication/PubMed/10029069" } ] }, { "title": "Heteroduplex formation by human Rad51 protein: effects of DNA end-structure, hRP-A and hRad52.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Baumann P, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10438626", "url": "https://glygen.org/publication/PubMed/10438626" } ] }, { "title": "The meiosis-specific recombinase hDmc1 forms ring structures and interacts with hRad51.", "journal": "The EMBO journal", "date": "1999", "authors": "Masson JY, Davies AA, Hajibagheri N, Van Dyck E, Benson FE, Stasiak AZ, Stasiak A, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10562567", "url": "https://glygen.org/publication/PubMed/10562567" } ] }, { "title": "Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells.", "journal": "Cancer research", "date": "2000", "authors": "Johnson FB, Lombard DB, Neff NF, Mastrangelo MA, Dewolf W, Ellis NA, Marciniak RA, Yin Y, Jaenisch R, Guarente L", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10728666", "url": "https://glygen.org/publication/PubMed/10728666" } ] }, { "title": "The Bloom's syndrome gene product interacts with topoisomerase III.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10734115", "url": "https://glygen.org/publication/PubMed/10734115" } ] }, { "title": "MSH4 acts in conjunction with MLH1 during mammalian meiosis.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2000", "authors": "Santucci-Darmanin S, Walpita D, Lespinasse F, Desnuelle C, Ashley T, Paquis-Flucklinger V", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10928988", "url": "https://glygen.org/publication/PubMed/10928988" } ] }, { "title": "The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.", "journal": "Nucleic acids research", "date": "2001", "authors": "Kondo E, Horii A, Fukushige S", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "11292842", "url": "https://glygen.org/publication/PubMed/11292842" } ] }, { "title": "Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse.", "journal": "Genome Res.", "date": "2003", "authors": "Xie T, Rowen L, Aguado B, Ahearn ME, Madan A, Qin S, Campbell RD, Hood L", "evidence": [ { "database": "UniProtKB", "id": "O43196", "url": "https://www.uniprot.org/uniprot/O43196" } ], "reference": [ { "type": "PubMed", "id": "14656967", "url": "https://glygen.org/publication/PubMed/14656967" } ] }, { "title": "Human meiotic recombinase Dmc1 promotes ATP-dependent homologous DNA strand exchange.", "journal": "Nature", "date": "2004", "authors": "Sehorn MG, Sigurdsson S, Bussen W, Unger VM, Sung P", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "15164066", "url": "https://glygen.org/publication/PubMed/15164066" } ] }, { "title": "hMSH4-hMSH5 recognizes Holliday Junctions and forms a meiosis-specific sliding clamp that embraces homologous chromosomes.", "journal": "Molecular cell", "date": "2004", "authors": "Snowden T, Acharya S, Butz C, Berardini M, Fishel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "15304223", "url": "https://glygen.org/publication/PubMed/15304223" } ] }, { "title": "Two variants of MutS homolog hMSH5: prevalence in humans and effects on protein interaction.", "journal": "Biochemical and biophysical research 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