{ "uniprot_canonical_ac": "A0AVF1-1", "uniprot_ac": "A0AVF1", "uniprot_id": "IFT56_HUMAN", "mass": { "chemical_mass": 64178.0, "monoisotopic_mass": 64178.0 }, "refseq": { "ac": "NP_001305262", "name": "intraflagellar transport protein 56 isoform 6", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" }, "gene_names": [ { "name": "TTC26", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1" }, { "name": "BRENS; dyf-13; DYF13; IFT56", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392", "id": "NP_001138392" }, { "name": "FLJ12571", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1" }, { "name": "IFT56", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1" }, { "name": "TTC26", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392", "id": "NP_001138392" }, { "name": "hCG_16387", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1" } ], "protein_names": [ { "name": "Intraflagellar transport protein 56", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0AVF1#names_and_taxonomy", "id": "A0AVF1" }, { "name": "TPR repeat protein 26", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0AVF1#names_and_taxonomy", "id": "A0AVF1" }, { "name": "Tetratricopeptide repeat protein 26", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0AVF1#names_and_taxonomy", "id": "A0AVF1" }, { "name": "intraflagellar transport protein 56 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392", "id": "NP_001138392" }, { "name": "intraflagellar transport protein 56 isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441", "id": "NP_001274441" }, { "name": "intraflagellar transport protein 56 isoform 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262", "id": "NP_001305262" }, { "name": "tetratricopeptide repeat protein 26; TPR repeat protein 26; intraflagellar transport protein 56", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441", "id": "NP_001274441" } ], "function": [ { "annotation": "Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.", "evidence": [ { "database": "RefSeq", "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" }, { "database": "PubMed", "id": "31595528", "url": "https://glygen.org/publication/PubMed/31595528" }, { "database": "RefSeq", "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" } ] }, { "annotation": "Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI2 and GLI3 at the ciliary tips and their dissociation from the negative regulator SUFU. Plays a key role in maintaining the integrity of the IFT complex B and the proper ciliary localization of the IFT complex B components. Not required for IFT complex A ciliary localization or function. Essential for maintaining proper microtubule organization within the ciliary axoneme.", "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1#function" }, { "database": "PubMed", "id": "Q8BS45", "url": "https://glygen.org/publication/PubMed/Q8BS45" } ] }, { "annotation": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" }, { "database": "PubMed", "id": "20628086", "url": "https://glygen.org/publication/PubMed/20628086" }, { "database": "RefSeq", "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" }, { "database": "PubMed", "id": "19913121", "url": "https://glygen.org/publication/PubMed/19913121" }, { "database": "RefSeq", "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" } ] }, { "annotation": "Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.", "evidence": [ { "database": "RefSeq", "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" }, { "database": "PubMed", "id": "32617964", "url": "https://glygen.org/publication/PubMed/32617964" }, { "database": "RefSeq", "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" } ] }, { "annotation": "TTC26 is an intraflagellar transport protein required for transport of motility-related proteins into flagella. Erratum:[Elife. 2014 Apr 01;3:e02897. PMID: 24692455] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" }, { "database": "PubMed", "id": "24596149", "url": "https://glygen.org/publication/PubMed/24596149" }, { "database": "RefSeq", "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A0AVF1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1" } ], "glycoeffect": [], "start_pos": 221, "end_pos": 221, "subjects_tested": "1044", "subjects_positive": "2", "frequency": "0.2", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs748726653.", "chr_id": "7", "chr_pos": "138833067", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "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": "malignant tumor of greater curve of 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": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A0AVF1", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1" } ], "glycoeffect": [], "start_pos": 81, "end_pos": 81, "subjects_tested": "820", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs1260374560.", "chr_id": "7", "chr_pos": "138824642", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Kidney", "uberon": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948" } ] }, { "tissue": { "name": "Oral cavity", "uberon": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "43.03", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948" } ] }, { "tissue": { "name": "Stomach", "uberon": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "62.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948" } ] }, { "tissue": { "name": "Uterus", "uberon": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948" } ] }, { "tissue": { "name": "Esophagus", "uberon": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "75.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948" } ] }, { "tissue": { "name": "Rectum", "uberon": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "72.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948" } ] }, { "tissue": { "name": "Colon", "uberon": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948" } ] }, { "tissue": { "name": "Urinary bladder", "uberon": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "66.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948" } ] }, { "tissue": { "name": "Thyroid gland", "uberon": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "71.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948" } ] }, { "tissue": { "name": "Lung", "uberon": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "51.72", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000105948", 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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": "prostate cancer, familial", "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, hereditary", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "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 aggressiveness", "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; HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "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 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"id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14; HPC14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15; HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", 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"https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10; HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": 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"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": "malignant tumor of greater curve of 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": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", 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"http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "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": "LNCR1", "description": "" }, { "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 1; LNCR1", "description": "" }, { "id": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "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; LNCR3", "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": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5; 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": "malignant tumor of the lung", "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": "malignant neoplasm of lung", "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 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": "malignant neoplasm of the lung", "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": "Nonsmall cell lung cancer", "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": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "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": 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cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid gland cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland 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 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": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "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": "ca liver - primary", "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": "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": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1" } ], "common_name": "Human" } ], "gene": [ { "name": "TTC26", "url": "https://www.uniprot.org/uniprot/A0AVF1", "locus": { "chromosome": "7", "start_pos": 139133744, "end_pos": 139191986, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105948", "url": "https://www.ensembl.org/id/ENSG00000105948" } ] } } ], "crossref": [ { "id": "ENSG00000105948", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "database": "Bgee" }, { "id": "A0AVF1", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "database": "BioMuta" }, { "id": "TTC26", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC26", "database": "GeneCards" }, { "id": "79989", "url": "https://www.ncbi.nlm.nih.gov/gene/79989", "database": "GeneID" }, { "id": "21882", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=21882", "database": "HGNC" }, { "id": "A0AVF1", "url": "https://www.ebi.ac.uk/intact/interactors/id:A0AVF1*", "database": "IntAct" }, { "id": "IPR011990", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011990", "database": "InterPro" }, { "id": "IPR019734", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019734", "database": "InterPro" }, { "id": "IPR030511", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030511", "database": "InterPro" }, { "id": "hsa:79989", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79989", "database": "KEGG Pathway" }, { "id": "617453", "url": "http://www.omim.org/entry/617453", "database": "MIM" }, { "id": "NX_A0AVF1", "url": "https://www.nextprot.org/entry/NX_A0AVF1", "database": "neXtProt" }, { "id": "FIIRRDY", "url": "https://omabrowser.org/oma/group/FIIRRDY/", "database": "OMA" }, { "id": "383516at2759", "url": "http://www.orthodb.org/?query=383516at2759", "database": "OrthoDB" }, { "id": "PTHR14781", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14781", "database": "PANTHER" }, { "id": "A0AVF1", "url": "https://pharos.nih.gov/targets/A0AVF1", "database": "PHAROS" }, { "id": "PR_A0AVF1", "url": "http://purl.obolibrary.org/obo/PR_A0AVF1", "database": "PRO" }, { "id": "R-HSA-5620924", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "database": "Reactome" }, { "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392", "database": "RefSeq" }, { "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441", "database": "RefSeq" }, { "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262", "database": "RefSeq" }, { "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1", "database": "UniProtKB" }, { "id": "A0AVF1-1", "url": "https://www.uniprot.org/uniprot/A0AVF1-1", "database": "UniProtKB" }, { "id": "A0AVF1-2", "url": "https://www.uniprot.org/uniprot/A0AVF1-2", "database": "UniProtKB" }, { "id": "A0AVF1-3", "url": "https://www.uniprot.org/uniprot/A0AVF1-3", "database": "UniProtKB" }, { "id": "B7Z2T3", "url": "https://www.uniprot.org/uniprot/B7Z2T3", "database": "UniProtKB" }, { "id": "B7Z2T3-1", "url": "https://www.uniprot.org/uniprot/B7Z2T3-1", "database": "UniProtKB" }, { "id": "B7Z6R6", "url": "https://www.uniprot.org/uniprot/B7Z6R6", "database": "UniProtKB" }, { "id": "B7Z6R6-1", "url": "https://www.uniprot.org/uniprot/B7Z6R6-1", "database": "UniProtKB" }, { "id": "F8WEZ4", "url": "https://www.uniprot.org/uniprot/F8WEZ4", "database": "UniProtKB" }, { "id": "F8WEZ4-1", "url": "https://www.uniprot.org/uniprot/F8WEZ4-1", "database": "UniProtKB" }, { "id": "Q96CU4", "url": "https://www.uniprot.org/uniprot/Q96CU4", "database": "UniProtKB" }, { "id": "Q96CU4-1", "url": "https://www.uniprot.org/uniprot/Q96CU4-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI", "length": 554, "header": "sp|A0AVF1-1|IFT56_HUMAN Isoform 1 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1" }, "isoforms": [ { "isoform_ac": "A0AVF1-1", "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-1", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI", "length": 554, "header": "sp|A0AVF1-1|IFT56_HUMAN Isoform 1 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139189429, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464848", "url": "https://www.ensembl.org/id/ENST00000464848" }, { "database": "Ensembl Peptide", "id": "ENSP00000419279", "url": "https://www.ensembl.org/id/ENSP00000419279" } ] } }, { "isoform_ac": "A0AVF1-2", "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-2", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKRDPSRSAPFTEKHR", "length": 487, "header": "sp|A0AVF1-2|IFT56_HUMAN Isoform 2 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139189362, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430935", "url": "https://www.ensembl.org/id/ENST00000430935" }, { "database": "Ensembl Peptide", "id": "ENSP00000410655", "url": "https://www.ensembl.org/id/ENSP00000410655" } ] } }, { "isoform_ac": "A0AVF1-3", "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-3", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI", "length": 523, "header": "sp|A0AVF1-3|IFT56_HUMAN Isoform 3 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139189429, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000343187", "url": "https://www.ensembl.org/id/ENST00000343187" }, { "database": "Ensembl Peptide", "id": "ENSP00000339135", "url": "https://www.ensembl.org/id/ENSP00000339135" } ] } }, { "isoform_ac": "B7Z2T3-1", "url": "https://www.uniprot.org/uniprot/A0AVF1#B7Z2T3-1", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI", "length": 423, "header": "tr|B7Z2T3-1|B7Z2T3_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=1 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139189429, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000495038", "url": "https://www.ensembl.org/id/ENST00000495038" }, { "database": "Ensembl Peptide", "id": "ENSP00000418788", "url": "https://www.ensembl.org/id/ENSP00000418788" } ] } }, { "isoform_ac": "B7Z6R6-1", "url": "https://www.uniprot.org/uniprot/A0AVF1#B7Z6R6-1", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI", "length": 447, "header": "tr|B7Z6R6-1|B7Z6R6_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=1 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139189429, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000478836", "url": "https://www.ensembl.org/id/ENST00000478836" }, { "database": "Ensembl Peptide", "id": "ENSP00000419178", "url": "https://www.ensembl.org/id/ENSP00000419178" } ] } }, { "isoform_ac": "F8WEZ4-1", "url": "https://www.uniprot.org/uniprot/A0AVF1#F8WEZ4-1", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKEK", "length": 135, "header": "tr|F8WEZ4-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139146989, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000476296", "url": "https://www.ensembl.org/id/ENST00000476296" }, { "database": "Ensembl Peptide", "id": "ENSP00000419639", "url": "https://www.ensembl.org/id/ENSP00000419639" } ] } }, { "isoform_ac": "Q96CU4-1", "url": "https://www.uniprot.org/uniprot/A0AVF1#Q96CU4-1", "sequence": { "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVNNDFPS", "length": 271, "header": "tr|Q96CU4-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1" }, "locus": { "chromosome": "7", "start_pos": 139161043, "end_pos": 139133858, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000474035", "url": "https://www.ensembl.org/id/ENST00000474035" }, { "database": "Ensembl Peptide", "id": "ENSP00000443253", "url": "https://www.ensembl.org/id/ENSP00000443253" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 167, "end_pos": 167, "kinase_uniprot_canonical_ac": "Q6P1J9-1", "kinase_gene_name": "CDC73", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A0AVF1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0AVF1-1" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "start_pos": 174, "end_pos": 174, "kinase_uniprot_canonical_ac": "Q6P1J9-1", "kinase_gene_name": "CDC73", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A0AVF1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0AVF1-1" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] } ], "glycation": [], "keywords": [], "publication": [ { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "A0AVF1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A0AVF1-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] }, { "title": "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.", "journal": "American journal of human genetics", "date": "2009", "authors": "Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD", "evidence": [ { "database": "RefSeq", "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" }, { "database": "RefSeq", "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441" } ], "reference": [ { "type": "PubMed", "id": "19913121", "url": "https://glygen.org/publication/PubMed/19913121" } ] }, { "title": "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.", "journal": "Diabetes care", "date": "2010", "authors": "Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S", "evidence": [ { "database": "RefSeq", "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" }, { "database": "RefSeq", "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" } ], "reference": [ { "type": "PubMed", "id": "20628086", "url": "https://glygen.org/publication/PubMed/20628086" } ] }, { "title": "TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.", "journal": "eLife", "date": "2014", "authors": "Ishikawa H, Ide T, Yagi T, Jiang X, Hirono M, Sasaki H, Yanagisawa H, Wemmer KA, Stainier DY, Qin H, Kamiya R, Marshall WF", "evidence": [ { "database": "RefSeq", "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" }, { "database": "RefSeq", "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" } ], "reference": [ { "type": "PubMed", "id": "24596149", "url": "https://glygen.org/publication/PubMed/24596149" } ] }, { "title": "Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.", "journal": "Hepatology (Baltimore, Md.)", "date": "2020", "authors": "Shaheen R, Alsahli S, Ewida N, Alzahrani F, Shamseldin HE, Patel N, Al Qahtani A, Alhebbi H, Alhashem A, Al-Sheddi T, Alomar R, Alobeid E, Abouelhoda M, Monies D, Al-Hussaini A, Alzouman MA, Shagrani M, Faqeih E, Alkuraya FS", "evidence": [ { "database": "RefSeq", "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" }, { "database": "RefSeq", "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" } ], "reference": [ { "type": "PubMed", "id": "31595528", "url": "https://glygen.org/publication/PubMed/31595528" } ] }, { "title": "Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.", "journal": "Clinical genetics", "date": "2020", "authors": "David O, Eskin-Schwartz M, Ling G, Dolgin V, Kristal E, Benkowitz E, Osyntsov L, Gradstein L, Birk OS, Loewenthal N, Yerushalmi B", "evidence": [ { "database": "RefSeq", "id": "NP_001274441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274441" }, { "database": "RefSeq", "id": "NP_001138392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392" }, { "database": "RefSeq", "id": "NP_001305262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305262" } ], "reference": [ { "type": "PubMed", "id": "32617964", "url": "https://glygen.org/publication/PubMed/32617964" } ] } ], "pathway": [ { "id": "hsa:79989", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79989", "resource": "KEGG Pathway" }, { "id": "R-HSA-5620924", "name": "Intraflagellar transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "resource": "Reactome", "description": "Intraflagellar transport" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5U2N8-1", "protein_name": "Intraflagellar transport protein 56", "gene_name": "Ttc26", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MMLSRAKPAVGGESPHTDKRKKKGRKIPKLEDLLSQRDFTGAITLLEFKRHVGEQEEDTNLWIGYCAFHLGDYKRALEEYENAAKEENCNPEVWVNLACTYFFLGMYKQAEAAGFKAPKSRLQNRLLFHLAHKFNDEKKLMNFHQNLQDIKEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGKAAEAELKSLMDNASSPFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEVFLLIQSEKLKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMILAGREPKETLREVLHLLRSTGNTQVEYIIRIMKKWAKENRVPI", "length": 554 }, "evidence": [ { "id": "11786", "url": "http://www.informatics.jax.org/homology/11786", "database": "MGI" }, { "id": "A0AVF1", "url": "https://omabrowser.org/oma/group/A0AVF1/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BS45-1", "protein_name": "Intraflagellar transport protein 56", "gene_name": "Ttc26", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MMLSRAKPAVGGESPHTDKRKKKGRKIPKLEDLLSQRDFTGAITLLEFKRHVGEQEDDTNLWIGYCAFHLGDYKRALEEYENATKEENCNPEVWVNLACTYFFLGMYKQAEAAGFKAPKSRLQNRLLFHLAHKFNDEKKLMNFHQNLQDIKEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGKAAEAELKSLMDNASSPFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEVFLLIQSEKLKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMILAGREPKETLREVLHLLRSTGNTQVEYIIRIMKKWAKENRVPI", "length": 554 }, "evidence": [ { "id": "11786", "url": "http://www.informatics.jax.org/homology/11786", "database": "MGI" }, { "id": "A0AVF1", "url": "https://omabrowser.org/oma/group/A0AVF1/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1" } ], "pmid": "21873635" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1" } ], "pmid": "21873635" }, { "name": "intraciliary transport particle B", "id": "GO:0030992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "A0AVF1", "url": "https://www.uniprot.org/uniprot/A0AVF1" } ], 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