{ "url": "https://dantelabs.com/fi/genes/cirop", "gene": { "slug": "cirop", "symbol": "CIROP", "name": "ciliated left-right organizer metallopeptidase", "hgnc": "HGNC:53647", "summary": null, "location": "14q11.2", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "LMLN2" ], "ensemblId": "ENSG00000283654", "entrezId": 100128908, "omim": [ "619703" ], "uniprot": [ "A0A1B0GTW7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "14", "start": 23099062, "end": 23104989, "strand": "-", "ensemblTranscript": "ENST00000637218.2", "refseqTranscript": "NM_001354640.2", "ensemblProtein": "ENSP00000489869.1", "refseqProtein": "NP_001341569.1", "exons": [ { "start": 23099062, "end": 23099489 }, { "start": 23100502, "end": 23100681 }, { "start": 23100850, "end": 23101079 }, { "start": 23101292, "end": 23101564 }, { "start": 23101669, "end": 23101765 }, { "start": 23101842, "end": 23101911 }, { "start": 23102092, "end": 23102266 }, { "start": 23102344, "end": 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"prmt5" }, { "symbol": "HAUS4", "ensemblId": "ENSG00000092036", "biotype": "protein_coding", "start": 22946228, "end": 22957161, "strand": "-", "slug": "haus4" }, { "symbol": "", "ensemblId": "ENSG00000259132", "biotype": "protein_coding", "start": 22946270, "end": 22982258, "strand": "-" }, { "symbol": "AJUBA", "ensemblId": "ENSG00000129474", "biotype": "protein_coding", "start": 22971177, "end": 22982647, "strand": "-", "slug": "ajuba" }, { "symbol": "C14orf93", "ensemblId": "ENSG00000100802", "biotype": "protein_coding", "start": 22985894, "end": 23010529, "strand": "-", "slug": "c14orf93" }, { "symbol": "PSMB5", "ensemblId": "ENSG00000100804", "biotype": "protein_coding", "start": 23016540, "end": 23035239, "strand": "-", "slug": "psmb5" }, { "symbol": "PSMB11", "ensemblId": "ENSG00000222028", "biotype": "protein_coding", "start": 23042212, "end": 23044060, "strand": "+", "slug": "psmb11" }, { "symbol": "CDH24", "ensemblId": "ENSG00000139880", "biotype": "protein_coding", "start": 23047062, "end": 23057668, "strand": "-", "slug": "cdh24" }, { "symbol": "ACIN1", "ensemblId": "ENSG00000100813", "biotype": "protein_coding", "start": 23058561, "end": 23095614, "strand": "-", "slug": "acin1" }, { "symbol": "C14orf119", "ensemblId": "ENSG00000179933", "biotype": "protein_coding", "start": 23094692, "end": 23100456, "strand": "+", "slug": "c14orf119" }, { "symbol": "CEBPE", "ensemblId": "ENSG00000092067", "biotype": "protein_coding", "start": 23117036, "end": 23120256, "strand": "-", "slug": "cebpe" }, { "symbol": "SLC7A8", "ensemblId": "ENSG00000092068", "biotype": "protein_coding", "start": 23125295, "end": 23183683, "strand": "-", "slug": "slc7a8" }, { "symbol": "RNF212B", "ensemblId": "ENSG00000215277", "biotype": "protein_coding", "start": 23185316, "end": 23273477, "strand": "+", "slug": "rnf212b" }, { "symbol": "HOMEZ", "ensemblId": "ENSG00000290292", "biotype": "protein_coding", "start": 23258697, "end": 23299796, "strand": "-", "slug": "homez" }, { "symbol": "PPP1R3E", "ensemblId": "ENSG00000235194", "biotype": "protein_coding", "start": 23295652, "end": 23302950, "strand": "-", "slug": "ppp1r3e" }, { "symbol": "BCL2L2", "ensemblId": "ENSG00000129473", "biotype": "protein_coding", "start": 23298790, "end": 23313069, "strand": "+", "slug": "bcl2l2" }, { "symbol": "BCL2L2-PABPN1", "ensemblId": "ENSG00000258643", "biotype": "protein_coding", "start": 23306833, "end": 23326175, "strand": "+", "slug": "bcl2l2-pabpn1" }, { "symbol": "PABPN1", "ensemblId": "ENSG00000100836", "biotype": "protein_coding", "start": 23321447, "end": 23326176, "strand": "+", "slug": "pabpn1" }, { "symbol": "SLC22A17", "ensemblId": "ENSG00000092096", "biotype": "protein_coding", "start": 23346314, "end": 23352912, "strand": "-", "slug": "slc22a17" }, { "symbol": "EFS", "ensemblId": "ENSG00000100842", "biotype": "protein_coding", "start": 23353248, "end": 23366287, "strand": "-", "slug": "efs" }, { "symbol": "IL25", "ensemblId": "ENSG00000166090", "biotype": "protein_coding", "start": 23372809, "end": 23376403, "strand": "+", "slug": "il25" }, { "symbol": "CMTM5", "ensemblId": "ENSG00000166091", "biotype": "protein_coding", "start": 23376627, "end": 23379772, "strand": "+", "slug": "cmtm5" }, { "symbol": "MYH6", "ensemblId": "ENSG00000197616", "biotype": "protein_coding", "start": 23380206, "end": 23408945, "strand": "-", "slug": "myh6" }, { "symbol": "MYH7", "ensemblId": "ENSG00000092054", "biotype": "protein_coding", "start": 23412732, "end": 23436137, "strand": "-", "slug": "myh7" }, { "symbol": "NGDN", "ensemblId": "ENSG00000129460", "biotype": "protein_coding", "start": 23469464, "end": 23510024, "strand": "+", "slug": "ngdn" }, { "symbol": "ZFHX2", "ensemblId": "ENSG00000136367", "biotype": "protein_coding", "start": 23520851, "end": 23556192, "strand": "-", "slug": "zfhx2" }, { "symbol": "THTPA", "ensemblId": "ENSG00000259431", "biotype": "protein_coding", "start": 23555988, "end": 23560778, "strand": "+", "slug": "thtpa" }, { "symbol": "AP1G2", "ensemblId": "ENSG00000213983", "biotype": "protein_coding", "start": 23559555, "end": 23569507, "strand": "-", "slug": "ap1g2" }, { "symbol": "JPH4", "ensemblId": "ENSG00000092051", "biotype": "protein_coding", "start": 23568035, "end": 23578856, "strand": "-", "slug": "jph4" } ], "truncated": false }, "reports": [ { "slug": "heterotaxy-laterality-defects", "name": "Heterotaksia ja lateralisaatiohäiriöt", "diseases": [ { "mondoId": "MONDO:0018677", "name": "Viskeraalinen heterotaksia", "genes": 11, "inheritance": null, "description": "Sisäelinten epänormaali vasen–oikea-asettelu, joka aiheutuu geenien, kuten ZIC3 (X-kromosomiin kytkeytyvä), NODAL, CFC1, MMP21 ja PKD1L1, muutoksista. Siihen liittyy usein monimutkaisia sydänvirheitä ja pernan poikkeavuuksia.", "management": "Tiedosta on hyötyä sydämen ja vatsaontelon kuvantamisessa, infektioiden ehkäisyssä, jos perna puuttuu, sekä lisääntymiseen liittyvässä neuvonnassa.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/heterotaxy-laterality-defects" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-situs-ambiguus", "name": "Abdominal situs ambiguus", "systems": [ "abnormality-of-the-digestive-system", "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-situs-ambiguus" }, { "slug": "situs-inversus-totalis", "name": "All organs on wrong side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/situs-inversus-totalis" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "common-atrium", "name": "Common atrium", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/common-atrium" }, { "slug": "complete-atrioventricular-canal-defect", "name": "Complete atrioventricular canal defect", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/complete-atrioventricular-canal-defect" }, { "slug": "dextrotransposition-of-the-great-arteries", "name": "Dextrotransposition of the great arteries", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/dextrotransposition-of-the-great-arteries" }, { "slug": "discordant-atrioventricular-connection", "name": "Discordant atrioventricular connection", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/discordant-atrioventricular-connection" }, { "slug": "double-aortic-arch", "name": "Double aortic arch", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/double-aortic-arch" }, { "slug": "double-inlet-right-ventricle", "name": "Double inlet right ventricle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/double-inlet-right-ventricle" }, { "slug": "double-outlet-right-ventricle", "name": "Double outlet right ventricle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/double-outlet-right-ventricle" }, { "slug": "dextrocardia", "name": "Heart tip and four chambers point towards right side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dextrocardia" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "left-isomerism", "name": "Left Isomerism", "systems": [ "growth-abnormality" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/left-isomerism" }, { "slug": "left-superior-vena-cava-draining-to-coronary-sinus", "name": "Left superior vena cava draining to coronary sinus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/left-superior-vena-cava-draining-to-coronary-sinus" }, { "slug": "levotransposition-of-the-great-arteries", "name": "Levotransposition of the great arteries", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/levotransposition-of-the-great-arteries" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/coarctation-of-aorta" }, { "slug": "pulmonic-stenosis", "name": "Narrowing of pulmonic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonic-stenosis" }, { "slug": "partial-anomalous-pulmonary-venous-return", "name": "Partial anomalous pulmonary venous return", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/partial-anomalous-pulmonary-venous-return" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "patent-foramen-ovale", "name": "Patent foramen ovale", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-foramen-ovale" }, { "slug": "pulmonary-artery-atresia", "name": "Pulmonary artery atresia", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonary-artery-atresia" }, { "slug": "right-aortic-arch", "name": "Right aortic arch", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/right-aortic-arch" }, { "slug": "single-coronary-artery-origin", "name": "Single coronary artery origin", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/single-coronary-artery-origin" }, { "slug": "single-ventricle", "name": "Single ventricle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/single-ventricle" }, { "slug": "hypoplastic-aortic-arch", "name": "Underdeveloped aortic arch", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplastic-aortic-arch" }, { "slug": "hypoplastic-left-ventricle", "name": "Underdeveloped left heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoplastic-left-ventricle" } ], "related": [ { "slug": "acvr2b", "symbol": "ACVR2B", "name": "activin A receptor type 2B", "shared": 1, "url": "https://dantelabs.com/fi/genes/acvr2b" }, { "slug": "cfap53", "symbol": "CFAP53", "name": "cilia and flagella associated protein 53", "shared": 1, "url": "https://dantelabs.com/fi/genes/cfap53" }, { "slug": "cfc1", "symbol": "CFC1", "name": "cryptic, EGF-CFC family member 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/cfc1" }, { "slug": "daw1", "symbol": "DAW1", "name": "dynein assembly factor with WD repeats 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/daw1" }, { "slug": "gdf1", "symbol": "GDF1", "name": "growth differentiation factor 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/gdf1" }, { "slug": "mmp21", "symbol": "MMP21", "name": "matrix metallopeptidase 21", "shared": 1, "url": "https://dantelabs.com/fi/genes/mmp21" }, { "slug": "mns1", "symbol": "MNS1", "name": "meiosis specific nuclear structural 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/mns1" }, { "slug": "nodal", "symbol": "NODAL", "name": "nodal growth differentiation factor", "shared": 1, "url": "https://dantelabs.com/fi/genes/nodal" }, { "slug": "pkd1l1", "symbol": "PKD1L1", "name": "polycystin 1 like 1, transient receptor potential channel interacting", "shared": 1, "url": "https://dantelabs.com/fi/genes/pkd1l1" }, { "slug": "zic3", "symbol": "ZIC3", "name": "Zic family zinc finger 3", "shared": 1, "url": "https://dantelabs.com/fi/genes/zic3" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }