{ "url": "https://dantelabs.com/tr/genes/tp73", "gene": { "slug": "tp73", "symbol": "TP73", "name": "tumor protein p73", "hgnc": "HGNC:12003", "summary": null, "location": "1p36.32", "locusType": "gene with protein product", "aliases": [ "P73" ], "previousSymbols": [], "ensemblId": "ENSG00000078900", "entrezId": 7161, "omim": [ "601990" ], "uniprot": [ "O15350" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 3652516, "end": 3736201, "strand": "+", "ensemblTranscript": "ENST00000378295.9", "refseqTranscript": "NM_005427.4", "ensemblProtein": "ENSP00000367545.4", "refseqProtein": "NP_005418.1", "exons": [ { "start": 3652516, "end": 3652641 }, { "start": 3682333, "end": 3682430 }, { "start": 3683060, "end": 3683180 }, { "start": 3707549, "end": 3707791 }, { "start": 3722021, "end": 3722207 }, { "start": 3723354, "end": 3723469 }, { "start": 3727115, "end": 3727224 }, { "start": 3727628, "end": 3727770 }, { "start": 3728129, "end": 3728217 }, { "start": 3729327, "end": 3729448 }, { "start": 3730000, "end": 3730148 }, { "start": 3730927, "end": 3731065 }, { "start": 3731463, "end": 3731556 }, { "start": 3732747, "end": 3736201 } ], "cds": { "start": 3682366, "end": 3733079 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 3569084, "end": 3652765, "strand": "+" }, "neighbourhood": { "release": "116", "start": 3194359, "end": 4194358, "genes": [ { "symbol": "PRDM16", "ensemblId": "ENSG00000142611", "biotype": "protein_coding", "start": 3069003, "end": 3438621, "strand": "+", "slug": "prdm16" }, { "symbol": "ARHGEF16", "ensemblId": "ENSG00000130762", "biotype": "protein_coding", "start": 3454550, "end": 3485968, "strand": "+", "slug": "arhgef16" }, { "symbol": "MEGF6", "ensemblId": "ENSG00000162591", "biotype": "protein_coding", "start": 3487942, "end": 3611543, "strand": "-", "slug": "megf6" }, { "symbol": "TPRG1L", "ensemblId": "ENSG00000158109", "biotype": "protein_coding", "start": 3624979, "end": 3630131, "strand": "+", "slug": "tprg1l" }, { "symbol": "WRAP73", "ensemblId": "ENSG00000116213", "biotype": "protein_coding", "start": 3630767, "end": 3652761, "strand": "-", "slug": "wrap73" }, { "symbol": "CCDC27", "ensemblId": "ENSG00000162592", "biotype": "protein_coding", "start": 3746460, "end": 3771645, "strand": "+", "slug": "ccdc27" }, { "symbol": "SMIM1", "ensemblId": "ENSG00000235169", "biotype": "protein_coding", "start": 3772648, "end": 3782178, "strand": "+", "slug": "smim1" }, { "symbol": "LRRC47", "ensemblId": "ENSG00000130764", "biotype": "protein_coding", "start": 3778559, "end": 3796517, "strand": "-", "slug": "lrrc47" }, { "symbol": "CEP104", "ensemblId": "ENSG00000116198", "biotype": "protein_coding", "start": 3812086, "end": 3857723, "strand": "-", "slug": "cep104" }, { "symbol": "DFFB", "ensemblId": "ENSG00000169598", "biotype": "protein_coding", "start": 3857242, "end": 3885491, "strand": "+", "slug": "dffb" }, { "symbol": "C1orf174", "ensemblId": "ENSG00000198912", "biotype": "protein_coding", "start": 3889125, "end": 3900297, "strand": "-", "slug": "c1orf174" } ], "truncated": false }, "reports": [ { "slug": "primary-ciliary-dyskinesia", "name": "Primer Siliyer Diskinezi", "diseases": [ { "mondoId": "MONDO:0016575", "name": "Primer Siliyer Diskinezi", "genes": 50, "inheritance": "autosomal-recessive", "description": "Kronik üst ve alt solunum yolu hastalığıyla karakterize, genetik olarak heterojen, esas olarak solunum sistemini etkileyen nadir bir hastalık. PSD hastalarının yaklaşık yarısında organ lateralite bozukluğu (situs inversus totalis veya situs ambiguus/heterotaksi) bulunur.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "PanelApp Australia" ], "clingen": "Strong", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/primary-ciliary-dyskinesia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-mucociliary-clearance", "name": "Abnormal mucociliary clearance", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/abnormal-mucociliary-clearance" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "chronic-otitis-media", "name": "Chronic infections of the middle ear", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/chronic-otitis-media" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "lissencephaly", "name": "Fewer or absent grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lissencephaly" }, { "slug": "atelectasis", "name": "Partial or complete collapse of part or entire lung", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/atelectasis" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" } ], "related": [ { "slug": "ccdc39", "symbol": "CCDC39", "name": "coiled-coil domain 39 molecular ruler complex subunit", "shared": 1, "url": "https://dantelabs.com/tr/genes/ccdc39" }, { "slug": "ccdc40", "symbol": "CCDC40", "name": "coiled-coil domain 40 molecular ruler complex subunit", "shared": 1, "url": "https://dantelabs.com/tr/genes/ccdc40" }, { "slug": "ccno", "symbol": "CCNO", "name": "cyclin O", "shared": 1, "url": "https://dantelabs.com/tr/genes/ccno" }, { "slug": "cenpf", "symbol": "CENPF", "name": "centromere protein F", "shared": 1, "url": "https://dantelabs.com/tr/genes/cenpf" }, { "slug": "cfap20dc", "symbol": "CFAP20DC", "name": "CFAP20 domain containing", "shared": 1, "url": "https://dantelabs.com/tr/genes/cfap20dc" }, { "slug": "cfap221", "symbol": "CFAP221", "name": "cilia and flagella associated protein 221", "shared": 1, "url": "https://dantelabs.com/tr/genes/cfap221" }, { "slug": "cfap298", "symbol": "CFAP298", "name": "cilia and flagella associated protein 298", "shared": 1, "url": "https://dantelabs.com/tr/genes/cfap298" }, { "slug": "cfap300", "symbol": "CFAP300", "name": "cilia and flagella associated protein 300", "shared": 1, "url": "https://dantelabs.com/tr/genes/cfap300" }, { "slug": "cfap54", "symbol": "CFAP54", "name": "cilia and flagella associated protein 54", "shared": 1, "url": "https://dantelabs.com/tr/genes/cfap54" }, { "slug": "clxn", "symbol": "CLXN", "name": "calaxin", "shared": 1, "url": "https://dantelabs.com/tr/genes/clxn" }, { "slug": "daw1", "symbol": "DAW1", "name": "dynein assembly factor with WD repeats 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/daw1" }, { "slug": "dnaaf1", "symbol": "DNAAF1", "name": "dynein axonemal assembly factor 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/dnaaf1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }