{ "url": "https://dantelabs.com/el/genes/nup93", "gene": { "slug": "nup93", "symbol": "NUP93", "name": "nucleoporin 93", "hgnc": "HGNC:28958", "summary": null, "location": "16q13", "locusType": "gene with protein product", "aliases": [ "KIAA0095" ], "previousSymbols": [], "ensemblId": "ENSG00000102900", "entrezId": 9688, "omim": [ "614351" ], "uniprot": [ "Q8N1F7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 56730129, "end": 56850286, "strand": "+", "ensemblTranscript": "ENST00000308159.10", "refseqTranscript": "NM_014669.5", "ensemblProtein": "ENSP00000310668.5", "refseqProtein": "NP_055484.3", "exons": [ { "start": 56730129, "end": 56730211 }, { "start": 56748234, "end": 56748426 }, { "start": 56758538, "end": 56758655 }, { "start": 56798476, "end": 56798538 }, { "start": 56805504, "end": 56805632 }, { "start": 56818664, "end": 56818738 }, { "start": 56821504, "end": 56821593 }, { "start": 56823707, "end": 56823846 }, { "start": 56828977, "end": 56829109 }, { "start": 56830528, "end": 56830685 }, { "start": 56831842, "end": 56832007 }, { "start": 56832295, "end": 56832388 }, { "start": 56833215, "end": 56833406 }, { "start": 56834128, "end": 56834254 }, { "start": 56834370, "end": 56834442 }, { "start": 56834734, "end": 56834778 }, { "start": 56836601, "end": 56836717 }, { "start": 56837608, "end": 56837726 }, { "start": 56838952, "end": 56839069 }, { "start": 56839521, "end": 56839604 }, { "start": 56841705, "end": 56841833 }, { "start": 56844499, "end": 56850286 } ], "cds": { "start": 56748248, "end": 56844609 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "16", "start": 56764017, "end": 56878797, "strand": "+" }, "neighbourhood": { "release": "116", "start": 56290208, "end": 57290207, "genes": [ { "symbol": "GNAO1", "ensemblId": "ENSG00000087258", "biotype": "protein_coding", "start": 56189660, "end": 56357444, "strand": "+", "slug": "gnao1" }, { "symbol": "AMFR", "ensemblId": "ENSG00000159461", "biotype": "protein_coding", "start": 56361449, "end": 56425598, "strand": "-", "slug": "amfr" }, { "symbol": "NUDT21", "ensemblId": "ENSG00000167005", "biotype": "protein_coding", "start": 56428473, "end": 56452199, "strand": "-", "slug": "nudt21" }, { "symbol": "", "ensemblId": "ENSG00000288725", "biotype": "protein_coding", "start": 56430556, "end": 56501497, "strand": "-" }, { "symbol": "OGFOD1", "ensemblId": "ENSG00000087263", "biotype": "protein_coding", "start": 56451508, "end": 56479122, "strand": "+", "slug": "ogfod1" }, { "symbol": "BBS2", "ensemblId": "ENSG00000125124", "biotype": "protein_coding", "start": 56465640, "end": 56582667, "strand": "-", "slug": "bbs2" }, { "symbol": "MT4", "ensemblId": "ENSG00000102891", "biotype": "protein_coding", "start": 56565073, "end": 56569108, "strand": "+", "slug": "mt4" }, { "symbol": "MT3", "ensemblId": "ENSG00000087250", "biotype": "protein_coding", "start": 56589074, "end": 56591093, "strand": "+", "slug": "mt3" }, { "symbol": "MT2A", "ensemblId": "ENSG00000125148", "biotype": "protein_coding", "start": 56608130, "end": 56609503, "strand": "+", "slug": "mt2a" }, { "symbol": "MT1E", "ensemblId": "ENSG00000169715", "biotype": "protein_coding", "start": 56625475, "end": 56627112, "strand": "+", "slug": "mt1e" }, { "symbol": "MT1M", "ensemblId": "ENSG00000205364", "biotype": "protein_coding", "start": 56632485, "end": 56633986, "strand": "+", "slug": "mt1m" }, { "symbol": "MT1A", "ensemblId": "ENSG00000205362", "biotype": "protein_coding", "start": 56638202, "end": 56640087, "strand": "+", "slug": "mt1a" }, { "symbol": "MT1B", "ensemblId": "ENSG00000169688", "biotype": "protein_coding", "start": 56651885, "end": 56653204, "strand": "+", "slug": "mt1b" }, { "symbol": "MT1F", "ensemblId": "ENSG00000198417", "biotype": "protein_coding", "start": 56657640, "end": 56660698, "strand": "+", "slug": "mt1f" }, { "symbol": "MT1G", "ensemblId": "ENSG00000125144", "biotype": "protein_coding", "start": 56666730, "end": 56668072, "strand": "-", "slug": "mt1g" }, { "symbol": "MT1H", "ensemblId": "ENSG00000205358", "biotype": "protein_coding", "start": 56669660, "end": 56671135, "strand": "+", "slug": "mt1h" }, { "symbol": "MT1X", "ensemblId": "ENSG00000187193", "biotype": "protein_coding", "start": 56682058, "end": 56686110, "strand": "+", "slug": "mt1x" }, { "symbol": "SLC12A3", "ensemblId": "ENSG00000070915", "biotype": "protein_coding", "start": 56865203, "end": 56915850, "strand": "+", "slug": "slc12a3" }, { "symbol": "HERPUD1", "ensemblId": "ENSG00000051108", "biotype": "protein_coding", "start": 56930815, "end": 56946491, "strand": "+", "slug": "herpud1" }, { "symbol": "CETP", "ensemblId": "ENSG00000087237", "biotype": "protein_coding", "start": 56961922, "end": 56983845, "strand": "+", "slug": "cetp" }, { "symbol": "NLRC5", "ensemblId": "ENSG00000140853", "biotype": "protein_coding", "start": 56989485, "end": 57084238, "strand": "+", "slug": "nlrc5" }, { "symbol": "CPNE2", "ensemblId": "ENSG00000140848", "biotype": "protein_coding", "start": 57092517, "end": 57148369, "strand": "+", "slug": "cpne2" }, { "symbol": "PSME3IP1", "ensemblId": "ENSG00000172775", "biotype": "protein_coding", "start": 57152466, "end": 57186175, "strand": "-", "slug": "psme3ip1" }, { "symbol": "RSPRY1", "ensemblId": "ENSG00000159579", "biotype": "protein_coding", "start": 57186137, "end": 57242505, "strand": "+", "slug": "rspry1" }, { "symbol": "ARL2BP", "ensemblId": "ENSG00000102931", "biotype": "protein_coding", "start": 57245098, "end": 57259830, "strand": "+", "slug": "arl2bp" }, { "symbol": "PLLP", "ensemblId": "ENSG00000102934", "biotype": "protein_coding", "start": 57248547, "end": 57284683, "strand": "-", "slug": "pllp" } ], "truncated": false }, "reports": [ { "slug": "nephrotic-syndrome", "name": "Νεφρωτικό σύνδρομο", "diseases": [ { "mondoId": "MONDO:0002331", "name": "Νεφρωση", "genes": 29, "inheritance": null, "description": "Παθολογικές διεργασίες του ΝΕΦΡΟΥ χωρίς φλεγμονώδεις ή νεοπλασματικές συνιστώσες. Η νεφρωση μπορεί να είναι πρωτοπαθής διαταραχή ή δευτεροπαθής επιπλοκή άλλων νοσημάτων. Χαρακτηρίζεται από το ΝΕΦΡΩΤΙΚΟ ΣΥΝΔΡΟΜΟ, το οποίο υποδηλώνει την παρουσία ΠΡΩΤΕΪΝΟΥΡΙΑΣ και ΥΠΟΑΛΒΟΥΜΙΝΑΙΜΙΑΣ με συνοδό ΟΙΔΗΜΑ.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/nephrotic-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "diffuse-mesangial-sclerosis", "name": "Diffuse mesangial sclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "foamy-urine", "name": "Foamy urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foamy-urine" }, { "slug": "focal-segmental-glomerulosclerosis", "name": "Focal segmental glomerulosclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "minimal-change-glomerulonephritis", "name": "Minimal change glomerulonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/minimal-change-glomerulonephritis" }, { "slug": "periorbital-edema", "name": "Periorbital edema", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/periorbital-edema" }, { "slug": "peritonitis", "name": "Peritonitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/peritonitis" }, { "slug": "respiratory-tract-infection", "name": "Respiratory tract infection", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-tract-infection" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "steroid-resistant-nephrotic-syndrome", "name": "Steroid-resistant nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/steroid-resistant-nephrotic-syndrome" } ], "related": [ { "slug": "actn4", "symbol": "ACTN4", "name": "actinin alpha 4", "shared": 1, "url": "https://dantelabs.com/el/genes/actn4" }, { "slug": "arhgdia", "symbol": "ARHGDIA", "name": "Rho GDP dissociation inhibitor alpha", "shared": 1, "url": "https://dantelabs.com/el/genes/arhgdia" }, { "slug": "coq6", "symbol": "COQ6", "name": "coenzyme Q6, monooxygenase", "shared": 1, "url": "https://dantelabs.com/el/genes/coq6" }, { "slug": "coq8b", "symbol": "COQ8B", "name": "coenzyme Q8B", "shared": 1, "url": "https://dantelabs.com/el/genes/coq8b" }, { "slug": "daam2", "symbol": "DAAM2", "name": "dishevelled associated activator of morphogenesis 2", "shared": 1, "url": "https://dantelabs.com/el/genes/daam2" }, { "slug": "dgke", "symbol": "DGKE", "name": "diacylglycerol kinase epsilon", "shared": 1, "url": "https://dantelabs.com/el/genes/dgke" }, { "slug": "dlc1", "symbol": "DLC1", "name": "DLC1 Rho GTPase activating protein", "shared": 1, "url": "https://dantelabs.com/el/genes/dlc1" }, { "slug": "emp2", "symbol": "EMP2", "name": "epithelial membrane protein 2", "shared": 1, "url": "https://dantelabs.com/el/genes/emp2" }, { "slug": "itsn1", "symbol": "ITSN1", "name": "intersectin 1", "shared": 1, "url": "https://dantelabs.com/el/genes/itsn1" }, { "slug": "itsn2", "symbol": "ITSN2", "name": "intersectin 2", "shared": 1, "url": "https://dantelabs.com/el/genes/itsn2" }, { "slug": "kank2", "symbol": "KANK2", "name": "KN motif and ankyrin repeat domains 2", "shared": 1, "url": "https://dantelabs.com/el/genes/kank2" }, { "slug": "lama5", "symbol": "LAMA5", "name": "laminin subunit alpha 5", "shared": 1, "url": "https://dantelabs.com/el/genes/lama5" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }