{ "uniprot_canonical_ac": "O60706-1", "uniprot_ac": "O60706", "uniprot_id": "ABCC9_HUMAN", "mass": { "chemical_mass": 174223.0, "monoisotopic_mass": 174223.0 }, "refseq": { "ac": "NP_005682", "name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "summary": "The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682" }, "gene_names": [ { "name": "ABCC9", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60706", "id": "O60706" }, { "name": "ABC37; ATFB12; CANTU; CMD1O; IDMYS; SUR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682", "id": "NP_005682" }, { "name": "ABCC9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682", "id": "NP_005682" }, { "name": "SUR2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60706", "id": "O60706" }, { "name": "hCG_24790", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60706", "id": "O60706" } ], "protein_names": [ { "name": "ATP-binding cassette sub-family C member 9", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60706" }, { "name": "ATP-binding cassette sub-family C member 9 isoform SUR2A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682", "id": "NP_005682" }, { "name": "ATP-binding cassette transporter sub-family C member 9; sulfonylurea receptor 2; ATP-binding cassette, sub-family C (CFTR/MRP), member 9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682", "id": "NP_005682" }, { "name": "Sulfonylurea receptor 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60706" } ], "function": [ { "annotation": "Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682" }, { "database": "PubMed", "id": "34359961", "url": "https://glygen.org/publication/PubMed/34359961" } ] }, { "annotation": "Role of mutation in human dilated cardiomyopathy and effect on KATP channel gating", "evidence": [ { "database": "RefSeq", "id": "NP_005682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682" }, { "database": "PubMed", "id": "15034580", "url": "https://glygen.org/publication/PubMed/15034580" } ] }, { "annotation": "Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706#function" }, { "database": "PubMed", "id": "9831708", "url": "https://glygen.org/publication/PubMed/9831708" } ] }, { "annotation": "The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682" }, { "database": "PubMed", "id": "33846486", "url": "https://glygen.org/publication/PubMed/33846486" } ] }, { "annotation": "The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_005682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682" } ] }, { "annotation": "Vascular KATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.", "evidence": [ { "database": "RefSeq", "id": "NP_005682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682" }, { "database": "PubMed", "id": "34711681", "url": "https://glygen.org/publication/PubMed/34711681" } ] } ], "disease": [ { "disease_id": "DOID:0050650", "recommended_name": { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes." }, "synonyms": [ { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050650", "name": "ATFB", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "GJA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, type 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "familial atrial fibrillation caused by mutation in GJA5", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "ATFB11", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "SCN5A familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, type 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "familial atrial fibrillation caused by mutation in SCN5A", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "ATFB10", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "SCN1B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, type 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "familial atrial fibrillation caused by mutation in SCN1B", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "ATFB13", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "SCN2B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, type 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "familial atrial fibrillation caused by mutation in SCN2B", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "ATFB14", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, autosomal dominant", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "ATFB1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "ATFB2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "KCNQ1 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, type 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "familial atrial fibrillation caused by mutation in KCNQ1", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "ATFB3", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ABCC9 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, type 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "familial atrial fibrillation caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ATFB12", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "ATFB8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "KCNE2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, type 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "familial atrial fibrillation caused by mutation in KCNE2", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "ATFB4", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "ATFB5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "NUP155 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, type 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "familial atrial fibrillation caused by mutation in NUP155", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "ATFB15", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "NPPA familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, type 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "familial atrial fibrillation caused by mutation in NPPA", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "ATFB6", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "KCNA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, type 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "familial atrial fibrillation caused by mutation in KCNA5", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "ATFB7", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "KCNJ2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, type 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "familial atrial fibrillation caused by mutation in KCNJ2", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "ATFB9", "description": "" }, { "id": "MIM:614049", "resource": "MIM", "url": "https://www.omim.org/entry/614049", "name": "Atrial fibrillation, familial, 11", "description": "Atrial fibrillation, familial, 11" }, { "id": "MIM:614022", "resource": "MIM", "url": "https://www.omim.org/entry/614022", "name": "Atrial fibrillation, familial, 10", "description": "Atrial fibrillation, familial, 10" }, { "id": "MIM:615377", "resource": "MIM", "url": "https://www.omim.org/entry/615377", "name": "Atrial fibrillation, familial, 13", "description": "Atrial fibrillation, familial, 13" }, { "id": "MIM:615378", "resource": "MIM", "url": "https://www.omim.org/entry/615378", "name": "Atrial fibrillation, familial, 14", "description": "Atrial fibrillation, familial, 14" }, { "id": "MIM:607554", "resource": "MIM", "url": "https://www.omim.org/entry/607554", "name": "Atrial fibrillation, familial, 3", "description": "Atrial fibrillation, familial, 3" }, { "id": "MIM:614050", "resource": "MIM", "url": "https://www.omim.org/entry/614050", "name": "Atrial fibrillation, familial, 12", "description": "Atrial fibrillation, familial, 12" }, { "id": "MIM:611493", "resource": "MIM", "url": "https://www.omim.org/entry/611493", "name": "Atrial fibrillation, familial, 4", "description": "Atrial fibrillation, familial, 4" }, { "id": "MIM:615770", "resource": "MIM", "url": "https://www.omim.org/entry/615770", "name": "Atrial fibrillation, familial, 15", "description": "Atrial fibrillation, familial, 15" }, { "id": "MIM:612201", "resource": "MIM", "url": "https://www.omim.org/entry/612201", "name": "Atrial fibrillation, familial, 6", "description": "Atrial fibrillation, familial, 6" }, { "id": "MIM:612240", "resource": "MIM", "url": "https://www.omim.org/entry/612240", "name": "Atrial fibrillation, familial, 7", "description": "Atrial fibrillation, familial, 7" }, { "id": "MIM:613980", "resource": "MIM", "url": "https://www.omim.org/entry/613980", "name": "Atrial fibrillation, familial, 9", "description": "Atrial fibrillation, familial, 9" } ], "evidence": [ { "id": "614050", "database": "MIM", "url": "https://www.omim.org/entry/614050" } ] }, { "disease_id": "DOID:0060569", "recommended_name": { "id": "DOID:0060569", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060569", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly." }, "synonyms": [ { "id": "DOID:0060569", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060569", "name": "Cantu syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia Cantu type", "description": "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "Cantu syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia (Cantu syndrome)", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "Craniofaciocardioskeletal syndrome", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia", "description": "" }, { "id": "MONDO:0009406", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009406", "name": "hypertrichotic osteochondrodysplasia, Cantu type", "description": "" }, { "id": "MIM:239850", "resource": "MIM", "url": "https://www.omim.org/entry/239850", "name": 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"https://monarchinitiative.org/disease/MONDO:0859224", "name": "intellectual disability and myopathy syndrome", "description": "" }, "synonyms": [ { "id": "MIM:619719", "resource": "MIM", "url": "https://www.omim.org/entry/619719", "name": "Intellectual disability and myopathy syndrome", "description": "Intellectual disability and myopathy syndrome" } ], "evidence": [ { "id": "619719", "database": "MIM", "url": "https://www.omim.org/entry/619719" } ] } ], "snv": [ { "evidence": [ { "id": "rs1356591712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356591712" }, { "id": "rs1356591712", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1356591712#frequency_tab" }, { "id": "rs1356591712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356591712" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1076, "end_pos": 1076, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation 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"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": "" }, 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"url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs727502877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727502877" }, { "id": "rs727502877", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs727502877" }, { "id": "rs727502877", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs727502877#frequency_tab" }, { "id": "rs727502877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs727502877" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 16, "end_pos": 16, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIN->NIS).", "chr_id": "12", "chr_pos": "21936628", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N16", "disease": [ { "disease_id": "DOID:0110451", "recommended_name": { "id": "DOID:0110451", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, with ventricular tachycardia", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1322335430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322335430" }, { "id": "rs1322335430", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322335430" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 18, "end_pos": 18, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain 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"MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "familial isolated dilated cardiomyopathy caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, 1O", "description": "" }, { "id": "MONDO:0012062", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012062", "name": "cardiomyopathy, dilated, with ventricular tachycardia", "description": "" }, { "id": "MIM:608569", "resource": "MIM", "url": "https://www.omim.org/entry/608569", "name": "Cardiomyopathy, dilated, 1O", "description": "Cardiomyopathy, dilated, 1O" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1359649036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359649036" }, { "id": "rs1359649036", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1359649036#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2, "end_pos": 2, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "12", "chr_pos": "21936670", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2", "disease": [ { "disease_id": "DOID:0050650", "recommended_name": { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes." }, "synonyms": [ { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050650", "name": "ATFB", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "GJA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, type 11", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "familial atrial fibrillation caused by mutation in GJA5", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "ATFB11", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "SCN5A familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, type 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "familial atrial fibrillation caused by mutation in SCN5A", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "ATFB10", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "SCN1B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "atrial fibrillation, familial, type 13", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "familial atrial fibrillation caused by mutation in SCN1B", "description": "" }, { "id": "MONDO:0014155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014155", "name": "ATFB13", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "SCN2B familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "atrial fibrillation, familial, type 14", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "familial atrial fibrillation caused by mutation in SCN2B", "description": "" }, { "id": "MONDO:0014156", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014156", "name": "ATFB14", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, autosomal dominant", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "ATFB1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "ATFB2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "Any familial atrial 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"url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ABCC9 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "atrial fibrillation, familial, type 12", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "familial atrial fibrillation caused by mutation in ABCC9", "description": "" }, { "id": "MONDO:0013545", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013545", "name": "ATFB12", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "ATFB8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "KCNE2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, type 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "familial atrial fibrillation caused by mutation in KCNE2", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "ATFB4", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "ATFB5", "description": "" }, { "id": "MONDO:0012678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012678", "name": "atrial fibrillation, familial, 5", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "NUP155 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "atrial fibrillation, familial, type 15", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "familial atrial fibrillation caused by mutation in NUP155", "description": "" }, { "id": "MONDO:0014340", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014340", "name": "ATFB15", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "NPPA familial atrial 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"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 - 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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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"name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O60706", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60706" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60706" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O60706", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60706" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60706", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60706" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O60706", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60706" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60706", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60706" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O60706", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60706" } ], "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": 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"categories": [ "Protein Classification" ] }, { "id": "cd03290", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03290", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd18591", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18591", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd18602", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18602", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL1971", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL1971", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ABCC9", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCC9", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10060", "url": "https://www.ncbi.nlm.nih.gov/gene/10060", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "60", "url": 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"id": "IPR017871", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017871", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036640", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036640", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047080", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047080", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10060", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10060", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "239850", "url": "http://www.omim.org/entry/239850", "database": "MIM", "categories": [ "Other" ] }, { "id": "601439", "url": "http://www.omim.org/entry/601439", "database": "MIM", "categories": [ "Other" ] }, { "id": "608569", "url": "http://www.omim.org/entry/608569", "database": "MIM", "categories": [ "Other" ] }, { "id": "614050", "url": "http://www.omim.org/entry/614050", "database": "MIM", "categories": [ "Other" ] }, { "id": "619719", "url": "http://www.omim.org/entry/619719", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60706", "url": "https://www.nextprot.org/entry/NX_O60706", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "WLSFWPR", "url": "https://omabrowser.org/oma/group/WLSFWPR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3384185at2759", "url": "http://www.orthodb.org/?query=3384185at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24223", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24223:SF173", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24223:SF173", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00005", "url": "http://pfam.xfam.org/family/PF00005", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00664", "url": "http://pfam.xfam.org/family/PF00664", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60706", "url": "https://pharos.nih.gov/targets/O60706", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050797", "url": "https://proconsortium.org/app/entry/PR:000050797", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O60706", "url": "http://purl.obolibrary.org/obo/PR_O60706", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1296025", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1296025", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5678420", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5678420", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_005682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005682", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O60706", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A804HHX2", "url": "https://www.uniprot.org/uniprot/A0A804HHX2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HHX2-1", "url": "https://www.uniprot.org/uniprot/A0A804HHX2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIU2", "url": "https://www.uniprot.org/uniprot/A0A804HIU2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HIU2-1", "url": "https://www.uniprot.org/uniprot/A0A804HIU2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HK56", "url": "https://www.uniprot.org/uniprot/A0A804HK56", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HK56-1", "url": "https://www.uniprot.org/uniprot/A0A804HK56-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKB7", "url": "https://www.uniprot.org/uniprot/A0A804HKB7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HKB7-1", "url": "https://www.uniprot.org/uniprot/A0A804HKB7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HL22", "url": "https://www.uniprot.org/uniprot/A0A804HL22", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HL22-1", "url": "https://www.uniprot.org/uniprot/A0A804HL22-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HL58", "url": "https://www.uniprot.org/uniprot/A0A804HL58", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HL58-1", "url": "https://www.uniprot.org/uniprot/A0A804HL58-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V1N6", "url": "https://www.uniprot.org/uniprot/G3V1N6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V1N6-1", "url": "https://www.uniprot.org/uniprot/G3V1N6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFV4", "url": "https://www.uniprot.org/uniprot/H0YFV4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YFV4-1", "url": "https://www.uniprot.org/uniprot/H0YFV4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60706-1", "url": "https://www.uniprot.org/uniprot/O60706-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60706-2", "url": "https://www.uniprot.org/uniprot/O60706-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N4N7", "url": "https://www.uniprot.org/uniprot/Q8N4N7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N4N7-1", "url": "https://www.uniprot.org/uniprot/Q8N4N7-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITNYLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDAVVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK", "length": 1549, "header": "sp|O60706-1|ABCC9_HUMAN Isoform 1 of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=2 CANONICAL=O60706-1" }, "isoforms": [ { "isoform_ac": "A0A804HHX2-1", "url": "", "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTILLKFQNIGHKKGRSRYMICVSDMKII", "length": 1284, "header": "tr|A0A804HHX2-1|ABCC9_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=1 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21936674, "end_pos": 21815813, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683105.1", "url": "https://www.ensembl.org/id/ENST00000683105.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506801.1", "url": "https://www.ensembl.org/id/ENSP00000506801.1" } ] } }, { "isoform_ac": "A0A804HIU2-1", "url": "", "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTVRSFHDFEMETK", "length": 1235, "header": "tr|A0A804HIU2-1|ABCC9_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=1 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21936674, "end_pos": 21828922, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682068.1", "url": "https://www.ensembl.org/id/ENST00000682068.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507226.1", "url": "https://www.ensembl.org/id/ENSP00000507226.1" } ] } }, { "isoform_ac": "A0A804HK56-1", "url": "", "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLGKYDHFCCFSLKRYLFFPPKGYFSFSSG", "length": 163, "header": "tr|A0A804HK56-1|ABCC9_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=1 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21936674, "end_pos": 21925859, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684435.1", "url": "https://www.ensembl.org/id/ENST00000684435.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507779.1", "url": "https://www.ensembl.org/id/ENSP00000507779.1" } ] } }, { "isoform_ac": "A0A804HKB7-1", "url": "", "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITNYLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDAVVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILTADLVIVMKRGNILEYDTPESLLAQENGVFASFVRADM", "length": 1532, "header": "tr|A0A804HKB7-1|ABCC9_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=1 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21936674, "end_pos": 21801047, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684084.1", "url": "https://www.ensembl.org/id/ENST00000684084.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507859.1", "url": "https://www.ensembl.org/id/ENSP00000507859.1" } ] } }, { "isoform_ac": "A0A804HL22-1", "url": "", "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITNYLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFSGSIRYISQCYPSPLPPPHHSPQSVIFPFLCPCDLIVQFPPMSENMRCLVFCSCDSLLRMMVSSFIHVPTKDMNSSFCMAA", "length": 1480, "header": "tr|A0A804HL22-1|ABCC9_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=1 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21936674, "end_pos": 21798910, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000683676.1", "url": "https://www.ensembl.org/id/ENST00000683676.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508167.1", "url": "https://www.ensembl.org/id/ENSP00000508167.1" } ] } }, { "isoform_ac": "A0A804HL58-1", "url": "", "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLEKSCRSSKSDSIYMACNVQSFWATNST", "length": 162, "header": "tr|A0A804HL58-1|ABCC9_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=1 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21936674, "end_pos": 21912987, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682879.1", "url": "https://www.ensembl.org/id/ENST00000682879.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508210.1", "url": "https://www.ensembl.org/id/ENSP00000508210.1" } ] } }, { "isoform_ac": "G3V1N6-1", "url": "", "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLVPGVSVSGLESKDIFPRFKPFTDAVGMPHFTRITM", "length": 170, "header": "tr|G3V1N6-1|ABCC9_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=1 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21936674, "end_pos": 21925456, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538350.5", "url": "https://www.ensembl.org/id/ENST00000538350.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442604.1", "url": "https://www.ensembl.org/id/ENSP00000442604.1" } ] } }, { "isoform_ac": "H0YFV4-1", "url": "", "sequence": { "sequence": "ISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITNYLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDAVVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK", "length": 1176, "header": "tr|H0YFV4-1|ABCC9_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=1 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21910978, "end_pos": 21805177, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544039.5", "url": "https://www.ensembl.org/id/ENST00000544039.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440521.1", "url": "https://www.ensembl.org/id/ENSP00000440521.1" } ] } }, { "isoform_ac": "O60706-1", "url": "", "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITNYLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDAVVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVSSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK", "length": 1549, "header": "sp|O60706-1|ABCC9_HUMAN Isoform 1 of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=2 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21936674, "end_pos": 21805177, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261201.10", "url": "https://www.ensembl.org/id/ENST00000261201.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000261201.4", "url": "https://www.ensembl.org/id/ENSP00000261201.4" } ] } }, { "isoform_ac": "O60706-2", "url": "", "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYCQSGLDISNLRFCITGMMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHKKPIDLKAIGKLPIAMRAVTNYVCLKDAYEEQKKKVADHPNRTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNETQNGTNNTTGISETLSSKEFLENAYVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGDDSWRTGESSLPFESCKKHTGVQPKTINRKQPGRYHLDSYEQSTRRLRPAETEDIAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVHWSNVNESEPSFEATRSRNRYSVAYAAQKPWLLNATVEENITFGSPFNKQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTLVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWRYLTSGGFFLLILMIFSKLLKHSVIVAIDYWLATWTSEYSINNTGKADQTYYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLVALLPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITNYLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDAVVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILTADLVIVMKRGNILEYDTPESLLAQENGVFASFVRADM", "length": 1549, "header": "sp|O60706-2|ABCC9_HUMAN Isoform 2 of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=2 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21936674, "end_pos": 21801047, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261200.9", "url": "https://www.ensembl.org/id/ENST00000261200.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000261200.4", "url": "https://www.ensembl.org/id/ENSP00000261200.4" } ] } }, { "isoform_ac": "Q8N4N7-1", "url": "", "sequence": { "sequence": "MSLSFCGNNISSYNINDGVLQNSCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSRRESRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLGFSHHESKSCYQHS", "length": 149, "header": "tr|Q8N4N7-1|ABCC9_HUMAN Computationally mapped isoform of ATP-binding cassette sub-family C member 9 OS=Homo sapiens OX=9606 GN=ABCC9 PE=1 SV=1 CANONICAL=O60706-1" }, "locus": { "chromosome": "12", "start_pos": 21936674, "end_pos": 21923816, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000326684.8", "url": "https://www.ensembl.org/id/ENST00000326684.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000317518.4", "url": "https://www.ensembl.org/id/ENSP00000317518.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 326, "start_aa": "Asn", "end_pos": 326, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn326", "evidence": [ { "id": "O60706", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60706#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "evidence": [ { "id": "O60706", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60706#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 333, "start_aa": "Asn", "end_pos": 333, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn333", "evidence": [ { "id": "O60706", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60706#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 334, "start_aa": "Asn", "end_pos": 334, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn334", "evidence": [ { "id": "O60706", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60706#ptm_processing" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 495, "start_aa": "Thr", "end_pos": 495, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr495", "evidence": [ { "id": "O60706", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 9, "start_aa": "Asn", "end_pos": 9, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn9", "evidence": [ { "id": "O60706", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60706#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 1468, "end_pos": 1468, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60706", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60706" }, { "database": "PubMed", "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422" } ], "site_lbl": "Ser1468" }, { "start_pos": 635, "end_pos": 635, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60706", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60706" }, { "database": "PubMed", "id": "15087422", "url": "https://glygen.org/publication/PubMed/15087422" } ], "site_lbl": "Thr635" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "ATP-Sensitive K+ channel modulator binding to sulfonylurea receptors SUR2A and SUR2B: opposite effects of MgADP.", "journal": "Molecular pharmacology", "date": "1999", "authors": "Hambrock A, Loffler-Walz C, Kloor D, Delabar U, Horio Y, Kurachi Y, Quast U", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578775", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578775" } ], "reference": [ { "type": "PubMed", "id": "10220561", "url": "https://glygen.org/publication/PubMed/10220561" } ] }, { "title": "Profound differences in the transport of steroids by two mouse P-glycoproteins.", "journal": "Biochemical pharmacology", "date": "1999", "authors": "Gruol DJ, Vo QD, Zee MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-382556" } ], "reference": [ { "type": "PubMed", "id": "10484077", "url": "https://glygen.org/publication/PubMed/10484077" } ] }, { "title": "Interaction of docetaxel (`Taxotere`) with human P-glycoprotein.", "journal": "Japanese journal of cancer research : Gann", "date": "1999", "authors": "Shirakawa K, Takara K, Tanigawara Y, Aoyama N, Kasuga M, Komada F, Sakaeda T, Okumura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-382556", 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"MSLSFCGNNISSYNIYHGVLQNPCFVDALNLVPHVFLLFITFPILFIGWGSQSSKVQIHHNTWLHFPGHNLRWILTFALLFVHVCEIAEGIVSDSQRASRHLHLFMPAVMGFVATTTSIVYYHNIETSNFPKLLLALFLYWVMAFITKTIKLVKYWQLGWGMSDLRFCITGVMVILNGLLMAVEINVIRVRRYVFFMNPQKVKPPEDLQDLGVRFLQPFVNLLSKATYWWMNTLIISAHRKPIDLKAIGKLPIAMRAVTNYVCLKEAYEEQKKKAADHPNRTPSIWLAMYRAFGRPILLSSTFRYLADLLGFAGPLCISGIVQRVNEPKNNTTRFSETLSSKEFLENAHVLAVLLFLALILQRTFLQASYYVTIETGINLRGALLAMIYNKILRLSTSNLSMGEMTLGQINNLVAIETNQLMWFLFLCPNLWAMPVQIIMGVILLYNLLGSSALVGAAVIVLLAPIQYFIATKLAEAQKSTLDYSTERLKKTNEILKGIKLLKLYAWEHIFCKSVEETRMKELSSLKTFALYTSLSIFMNAAIPIAAVLATFVTHAYASGNNLKPAEAFASLSLFHILVTPLFLLSTVVRFAVKAIISVQKLNEFLLSDEIGEDSWRTGEGTLPFESCKKHTGVQSKPINRKQPGRYHLDNYEQARRLRPAETEDVAIKVTNGYFSWGSGLATLSNIDIRIPTGQLTMIVGQVGCGKSSLLLAILGEMQTLEGKVYWNNVNESEPSFEATRSRSRYSVAYAAQKPWLLNATVEENITFGSSFNRQRYKAVTDACSLQPDIDLLPFGDQTEIGERGINLSGGQRQRICVARALYQNTNIVFLDDPFSALDIHLSDHLMQEGILKFLQDDKRTVVLVTHKLQYLTHADWIIAMKDGSVLREGTLKDIQTKDVELYEHWKTLMNRQDQELEKDMEADQTTLERKTLRRAMYSREAKAQMEDEDEEEEEEEDEDDNMSTVMRLRTKMPWKTCWWYLTSGGFFLLFLMIFSKLLKHSVIVAIDYWLATWTSEYSINDPGKADQTFYVAGFSILCGAGIFLCLVTSLTVEWMGLTAAKNLHHNLLNKIILGPIRFFDTTPLGLILNRFSADTNIIDQHIPPTLESLTRSTLLCLSAIGMISYATPVFLIALAPLGVAFYFIQKYFRVASKDLQELDDSTQLPLLCHFSETAEGLTTIRAFRHETRFKQRMLELTDTNNIAYLFLSAANRWLEVRTDYLGACIVLTASIASISGSSNSGLVGLGLLYALTITNYLNWVVRNLADLEVQMGAVKKVNSFLTMESENYEGTMDPSQVPEHWPQEGEIKIHDLCVRYENNLKPVLKHVKAYIKPGQKVGICGRTGSGKSSLSLAFFRMVDIFDGKIVIDGIDISKLPLHTLRSRLSIILQDPILFSGSIRFNLDPECKCTDDRLWEALEIAQLKNMVKSLPGGLDATVTEGGENFSVGQRQLFCLARAFVRKSSILIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVSSIMDAGLVLVFSEGILVECDTGPNLLQHKNGLFSTLVMTNK", "length": 1545 }, "evidence": [ { "id": "45920498", "url": "http://www.informatics.jax.org/homology/45920498", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 10, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "sulfonylurea receptor activity", "id": "GO:0008281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008281", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "ATPase-coupled inorganic anion transmembrane transporter activity", "id": "GO:0043225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043225", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "ATPase-coupled monoatomic cation transmembrane transporter activity", "id": "GO:0019829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019829", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "inward rectifying potassium channel", "id": "GO:0008282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008282", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "potassium ion-transporting ATPase complex", "id": "GO:0031004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031004", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 17, "go_terms": [ { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "cardiac muscle cell contraction", "id": "GO:0086003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086003", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "inorganic cation transmembrane transport", "id": "GO:0098662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098662", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "cardiac conduction", "id": "GO:0061337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061337", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "fibroblast proliferation", "id": "GO:0048144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048144", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "response to ATP", "id": "GO:0033198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033198", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "O60706", "url": "https://www.uniprot.org/uniprot/O60706" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "ATP-binding cassette sub-family C member 9 O-glycosylated 1 (human)", "definition": "An ATP-binding cassette sub-family C member 9 (human) that has been O-glycosylated at the residue equivalent to Thr-495 of the amino acid sequence represented by UniProtKB:O60706-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O60706-1, Thr-495, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050797", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050797" } ] } ], "site_annotation": [ { "start_pos": 1025, "end_pos": 1027, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1448, "end_pos": 1450, "annotation": "n_glycosylation_sequon" }, { "start_pos": 280, "end_pos": 282, "annotation": "n_glycosylation_sequon" }, { "start_pos": 326, "end_pos": 328, "annotation": "n_glycosylation_sequon" }, { "start_pos": 330, "end_pos": 332, "annotation": "n_glycosylation_sequon" }, { "start_pos": 333, "end_pos": 335, "annotation": "n_glycosylation_sequon" }, { "start_pos": 334, "end_pos": 336, "annotation": "n_glycosylation_sequon" }, { "start_pos": 402, "end_pos": 404, "annotation": "n_glycosylation_sequon" }, { "start_pos": 735, "end_pos": 737, "annotation": "n_glycosylation_sequon" }, { "start_pos": 763, "end_pos": 765, "annotation": "n_glycosylation_sequon" }, { "start_pos": 769, "end_pos": 771, "annotation": "n_glycosylation_sequon" }, { "start_pos": 811, "end_pos": 813, "annotation": "n_glycosylation_sequon" }, { "start_pos": 966, "end_pos": 968, "annotation": "n_glycosylation_sequon" }, { "start_pos": 9, "end_pos": 11, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 9, 326, 330, 333, 334 ], "o_linked_sites": [ 495 ], "snv_sites": [ 2, 9, 16, 18, 51, 60, 109, 131, 326, 328, 332, 333, 334, 416, 493, 495, 545, 616, 673, 694, 735, 831, 928, 1076, 1270, 1376, 1546 ], "glycation_sites": [], "phosphorylation_sites": [ 635, 1468 ], "sequon_annotation_sites": [ { "start_pos": 1025, "end_pos": 1027 }, { "start_pos": 1448, "end_pos": 1450 }, { "start_pos": 280, "end_pos": 282 }, { "start_pos": 326, "end_pos": 328 }, { "start_pos": 330, "end_pos": 332 }, { "start_pos": 333, "end_pos": 335 }, { "start_pos": 334, "end_pos": 336 }, { "start_pos": 402, "end_pos": 404 }, { "start_pos": 735, "end_pos": 737 }, { "start_pos": 763, "end_pos": 765 }, { "start_pos": 769, "end_pos": 771 }, { "start_pos": 811, "end_pos": 813 }, { "start_pos": 966, "end_pos": 968 }, { "start_pos": 9, "end_pos": 11 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "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": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 32 }, { "field": "total_sites", "count": 27 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 18 }, { "field": "total_sites", "count": 17 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 114 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }