{ "url": "https://dantelabs.com/cs/genes/p4htm", "gene": { "slug": "p4htm", "symbol": "P4HTM", "name": "prolyl 4-hydroxylase, transmembrane", "hgnc": "HGNC:28858", "summary": null, "location": "3p21.31", "locusType": "gene with protein product", "aliases": [ "P4H-TM", "PHD4", "PH4", "HIFPH4", "FLJ20262", "EGLN4", "PH-4" ], "previousSymbols": [], "ensemblId": "ENSG00000178467", "entrezId": 54681, "omim": [ "614584" ], "uniprot": [ "Q9NXG6" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 48990241, "end": 49007153, "strand": "+", "ensemblTranscript": "ENST00000383729.9", "refseqTranscript": "NM_177939.3", "ensemblProtein": "ENSP00000373235.4", "refseqProtein": "NP_808808.1", "exons": [ { "start": 48990241, "end": 48990610 }, { "start": 48990833, "end": 48990914 }, { "start": 49001438, "end": 49001628 }, { "start": 49002500, "end": 49002596 }, { "start": 49004098, "end": 49004260 }, { "start": 49004861, "end": 49005046 }, { "start": 49005777, "end": 49005867 }, { "start": 49006064, "end": 49006187 }, { "start": 49006687, "end": 49007153 } ], "cds": { "start": 48990257, "end": 49006907 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 49027319, "end": 49044587, "strand": "+" }, "neighbourhood": { "release": "116", "start": 48498697, "end": 49498696, "genes": [ { "symbol": "SHISA5", "ensemblId": "ENSG00000164054", "biotype": "protein_coding", "start": 48464205, "end": 48504826, "strand": "-", "slug": "shisa5" }, { "symbol": "PFKFB4", "ensemblId": "ENSG00000114268", "biotype": "protein_coding", "start": 48517668, "end": 48562015, "strand": "-", "slug": "pfkfb4" }, { "symbol": "UCN2", "ensemblId": "ENSG00000145040", "biotype": "protein_coding", "start": 48561718, "end": 48563781, "strand": "-", "slug": "ucn2" }, { "symbol": "COL7A1", "ensemblId": "ENSG00000114270", "biotype": "protein_coding", "start": 48564073, "end": 48595596, "strand": "-", "slug": "col7a1" }, { "symbol": "UQCRC1", "ensemblId": "ENSG00000010256", "biotype": "protein_coding", "start": 48598990, "end": 48610976, "strand": "-", "slug": "uqcrc1" }, { "symbol": "TMEM89", "ensemblId": "ENSG00000183396", "biotype": "protein_coding", "start": 48620759, "end": 48621769, "strand": "-", "slug": "tmem89" }, { "symbol": "SLC26A6", "ensemblId": "ENSG00000225697", "biotype": "protein_coding", "start": 48625718, "end": 48635510, "strand": "-", "slug": "slc26a6" }, { "symbol": "CELSR3", "ensemblId": "ENSG00000008300", "biotype": "protein_coding", "start": 48636463, "end": 48662886, "strand": "-", "slug": "celsr3" }, { "symbol": "NCKIPSD", "ensemblId": "ENSG00000213672", "biotype": "protein_coding", "start": 48662986, "end": 48686364, "strand": "-", "slug": "nckipsd" }, { "symbol": "IP6K2", "ensemblId": "ENSG00000068745", "biotype": "protein_coding", "start": 48688003, "end": 48740353, "strand": "-", "slug": "ip6k2" }, { "symbol": "PRKAR2A", "ensemblId": "ENSG00000114302", "biotype": "protein_coding", "start": 48744591, "end": 48847894, "strand": "-", "slug": "prkar2a" }, { "symbol": "SLC25A20", "ensemblId": "ENSG00000178537", "biotype": "protein_coding", "start": 48856926, "end": 48898993, "strand": "-", "slug": "slc25a20" }, { "symbol": "ARIH2", "ensemblId": "ENSG00000177479", "biotype": "protein_coding", "start": 48918217, "end": 48986382, "strand": "+", "slug": "arih2" }, { "symbol": "WDR6", "ensemblId": "ENSG00000178252", "biotype": "protein_coding", "start": 49007062, "end": 49015953, "strand": "+", "slug": "wdr6" }, { "symbol": "DALRD3", "ensemblId": "ENSG00000178149", "biotype": "protein_coding", "start": 49015474, "end": 49022293, "strand": "-", "slug": "dalrd3" }, { "symbol": "NDUFAF3", "ensemblId": "ENSG00000178057", "biotype": "protein_coding", "start": 49020459, "end": 49027593, "strand": "+", "slug": "ndufaf3" }, { "symbol": "IMPDH2", "ensemblId": "ENSG00000178035", "biotype": "protein_coding", "start": 49024315, "end": 49029452, "strand": "-", "slug": "impdh2" }, { "symbol": "", "ensemblId": "ENSG00000290315", "biotype": "protein_coding", "start": 49024345, "end": 49094071, "strand": "-" }, { "symbol": "QRICH1", "ensemblId": "ENSG00000198218", "biotype": "protein_coding", "start": 49029700, "end": 49094545, "strand": "-", "slug": "qrich1" }, { "symbol": "QARS1", "ensemblId": "ENSG00000172053", "biotype": "protein_coding", "start": 49095932, "end": 49105130, "strand": "-", "slug": "qars1" }, { "symbol": "USP19", "ensemblId": "ENSG00000172046", "biotype": "protein_coding", "start": 49105758, "end": 49120940, "strand": "-", "slug": "usp19" }, { "symbol": "LAMB2", "ensemblId": "ENSG00000172037", "biotype": "protein_coding", "start": 49121113, "end": 49133118, "strand": "-", "slug": "lamb2" }, { "symbol": "CCDC71", "ensemblId": "ENSG00000177352", "biotype": "protein_coding", "start": 49161063, "end": 49166357, "strand": "-", "slug": "ccdc71" }, { "symbol": "KLHDC8B", "ensemblId": "ENSG00000185909", "biotype": "protein_coding", "start": 49171239, "end": 49176487, "strand": "+", "slug": "klhdc8b" }, { "symbol": "CIMIP7", "ensemblId": "ENSG00000236980", "biotype": "protein_coding", "start": 49177634, "end": 49191858, "strand": "-", "slug": "cimip7" }, { "symbol": "IHO1", "ensemblId": "ENSG00000173421", "biotype": "protein_coding", "start": 49198428, "end": 49277629, "strand": "+", "slug": "iho1" }, { "symbol": "C3orf62", "ensemblId": "ENSG00000188315", "biotype": "protein_coding", "start": 49268596, "end": 49277236, "strand": "-", "slug": "c3orf62" }, { "symbol": "USP4", "ensemblId": "ENSG00000114316", "biotype": "protein_coding", "start": 49277144, "end": 49340712, "strand": "-", "slug": "usp4" }, { "symbol": "GPX1", "ensemblId": "ENSG00000233276", "biotype": "protein_coding", "start": 49357174, "end": 49358605, "strand": "-", "slug": "gpx1" }, { "symbol": "", "ensemblId": "ENSG00000290318", "biotype": "protein_coding", "start": 49357176, "end": 49412051, "strand": "-" }, { "symbol": "RHOA", "ensemblId": "ENSG00000067560", "biotype": "protein_coding", "start": 49359136, "end": 49412998, "strand": "-", "slug": "rhoa" }, { "symbol": "TCTA", "ensemblId": "ENSG00000145022", "biotype": "protein_coding", "start": 49412212, "end": 49455826, "strand": "+", "slug": "tcta" }, { "symbol": "AMT", "ensemblId": "ENSG00000145020", "biotype": "protein_coding", "start": 49416771, "end": 49422685, "strand": "-", "slug": "amt" }, { "symbol": "", "ensemblId": "ENSG00000283189", "biotype": "protein_coding", "start": 49416777, "end": 49429314, "strand": "-" }, { "symbol": "NICN1", "ensemblId": "ENSG00000145029", "biotype": "protein_coding", "start": 49422333, "end": 49429331, "strand": "-", "slug": "nicn1" }, { "symbol": "DAG1", "ensemblId": "ENSG00000173402", "biotype": "protein_coding", "start": 49468649, "end": 49535624, "strand": "+", "slug": "dag1" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormality-of-the-ankle", "name": "Abnormality of the ankle", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormality-of-the-ankle" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "finger-joint-hypermobility", "name": "Increased mobility in finger joint", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/finger-joint-hypermobility" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "genu-valgum", "name": "Knock knees", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/genu-valgum" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/obesity" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }