{ "uniprot_canonical_ac": "A0AVF1-1", "ptm_annotation": [], "sequence": { "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", "length": 554, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" }, "uniprot_id": "IFT56_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "man", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20628086", "type": [ "PubMed" ], "id": "20628086" } ], "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", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "authors": "Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19913121", "type": [ "PubMed" ], "id": "19913121" } ], "title": "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.", "journal": "American journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "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", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24596149", "type": [ "PubMed" ], "id": "24596149" } ], "title": "TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.", "journal": "eLife", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "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", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27173435", "type": [ "PubMed" ], "id": "27173435" } ], "title": "An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.", "journal": "Nature communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "authors": "Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R", "date": "2016" } ], "uniprot_ac": "A0AVF1", "site_annotation": [ { "end_pos": 410, "annotation": "n_glycosylation_sequon", "start_pos": 408 }, { "end_pos": 250, "annotation": "n_glycosylation_sequon", "start_pos": 248 }, { "end_pos": 84, "annotation": "n_glycosylation_sequon", "start_pos": 82 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1#F8WEZ4-1", "isoform_ac": "F8WEZ4-1", "locus": { "end_pos": 139133858, "start_pos": 139146989, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000476296", "id": "ENST00000476296", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419639", "id": "ENSP00000419639", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 135, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKEK" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#B7Z6R6-1", "isoform_ac": "B7Z6R6-1", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000478836", "id": "ENST00000478836", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419178", "id": "ENSP00000419178", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B7Z6R6-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 447, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#B7Z2T3-1", "isoform_ac": "B7Z2T3-1", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000495038", "id": "ENST00000495038", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000418788", "id": "ENSP00000418788", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B7Z2T3-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 423, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-2", "isoform_ac": "A0AVF1-2", "locus": { "end_pos": 139133858, "start_pos": 139189362, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000430935", "id": "ENST00000430935", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000410655", "id": "ENSP00000410655", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 487, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKRDPSRSAPFTEKHR" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-3", "isoform_ac": "A0AVF1-3", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000343187", "id": "ENST00000343187", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000339135", "id": "ENSP00000339135", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 523, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-1", "isoform_ac": "A0AVF1-1", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000464848", "id": "ENST00000464848", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419279", "id": "ENSP00000419279", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 554, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#Q96CU4-1", "isoform_ac": "Q96CU4-1", "locus": { "end_pos": 139133858, "start_pos": 139161043, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000474035", "id": "ENST00000474035", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000443253", "id": "ENSP00000443253", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 271, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVNNDFPS" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "resource": "Reactome", "id": "R-HSA-5620924", "name": "Intraflagellar transport" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79989", "resource": "KEGG Pathway", "id": "hsa:79989", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "annotation": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#function", "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": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1#function", "id": "A0AVF1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "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": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8BS45-1", "protein_name": "Intraflagellar transport protein 56", "sequence": { "length": 554, "sequence": "MMLSRAKPAVGGESPHTDKRKKKGRKIPKLEDLLSQRDFTGAITLLEFKRHVGEQEDDTNLWIGYCAFHLGDYKRALEEYENATKEENCNPEVWVNLACTYFFLGMYKQAEAAGFKAPKSRLQNRLLFHLAHKFNDEKKLMNFHQNLQDIKEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGKAAEAELKSLMDNASSPFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEVFLLIQSEKLKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMILAGREPKETLREVLHLLRSTGNTQVEYIIRIMKKWAKENRVPI" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0AVF1/", "id": "A0AVF1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/11786", "id": "11786", "database": "MGI" } ], "common_name": "mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q5U2N8-1", "protein_name": "Intraflagellar transport protein 56", "sequence": { "length": 554, "sequence": "MMLSRAKPAVGGESPHTDKRKKKGRKIPKLEDLLSQRDFTGAITLLEFKRHVGEQEEDTNLWIGYCAFHLGDYKRALEEYENAAKEENCNPEVWVNLACTYFFLGMYKQAEAAGFKAPKSRLQNRLLFHLAHKFNDEKKLMNFHQNLQDIKEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGKAAEAELKSLMDNASSPFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEVFLLIQSEKLKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMILAGREPKETLREVLHLLRSTGNTQVEYIIRIMKKWAKENRVPI" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0AVF1/", "id": "A0AVF1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/11786", "id": "11786", "database": "MGI" } ], "common_name": "rats", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "start_pos": 81, "alt_nt": "A", "chr_id": "7", "ref_nt": "G", "chr_pos": "138824642", "disease": [ { "synonyms": [ { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." } }, { "synonyms": [], "recommended_name": { "id": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "K", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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In dbSNP: rs748726653.", "end_pos": 221, "minor_allelic_frequency": "", "subjects_positive": "2" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "ac": "NP_001138392.1", "name": "intraflagellar transport protein 56 isoform 2", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120170", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary transport particle B binding", "id": "GO:0120170" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "ciliary basal body", "id": "GO:0036064" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "pmid": "21873635", "evidence": [ { "url": 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], "name": "ciliary tip", "id": "GO:0097542" } ], "total": 6, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035735", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary transport involved in cilium assembly", "id": "GO:0035735" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035720", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary anterograde transport", "id": "GO:0035720" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "cilium assembly", "id": "GO:0060271" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "pmid": "", "evidence": [ { "url": 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"https://www.ncbi.nlm.nih.gov/gene/79989", "id": "79989", "database": "GeneID" }, { "url": "https://omabrowser.org/oma/group/CAEFWVA/", "id": "CAEFWVA", "database": "OMA" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC26", "id": "TTC26", "database": "GeneCards" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR030511", "id": "IPR030511", "database": "InterPro" }, { "url": "https://pharos.nih.gov/targets/A0AVF1", "id": "A0AVF1", "database": "PHAROS" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013026", "id": "IPR013026", "database": "InterPro" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "10283", "url": "http://disease-ontology.org/term/DOID:10283", 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