{
  "url": "https://dantelabs.com/cs/genes/adcy6",
  "gene": {
    "slug": "adcy6",
    "symbol": "ADCY6",
    "name": "adenylate cyclase 6",
    "hgnc": "HGNC:237",
    "summary": null,
    "location": "12q13.12",
    "locusType": "gene with protein product",
    "aliases": [
      "AC6"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000174233",
    "entrezId": 112,
    "omim": [
      "600294"
    ],
    "uniprot": [
      "O43306"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 48766194,
      "end": 48789089,
      "strand": "-",
      "ensemblTranscript": "ENST00000357869.8",
      "refseqTranscript": "NM_015270.5",
      "ensemblProtein": "ENSP00000350536.4",
      "refseqProtein": "NP_056085.1",
      "exons": [
        {
          "start": 48766194,
          "end": 48768716
        },
        {
          "start": 48768937,
          "end": 48769061
        },
        {
          "start": 48770766,
          "end": 48770970
        },
        {
          "start": 48771710,
          "end": 48771973
        },
        {
          "start": 48772295,
          "end": 48772424
        },
        {
          "start": 48772508,
          "end": 48772543
        },
        {
          "start": 48773469,
          "end": 48773647
        },
        {
          "start": 48773940,
          "end": 48774098
        },
        {
          "start": 48774402,
          "end": 48774518
        },
        {
          "start": 48774691,
          "end": 48774778
        },
        {
          "start": 48774957,
          "end": 48775054
        },
        {
          "start": 48775303,
          "end": 48775450
        },
        {
          "start": 48775673,
          "end": 48775698
        },
        {
          "start": 48775963,
          "end": 48776091
        },
        {
          "start": 48776209,
          "end": 48776350
        },
        {
          "start": 48776428,
          "end": 48776586
        },
        {
          "start": 48777104,
          "end": 48777231
        },
        {
          "start": 48777410,
          "end": 48777521
        },
        {
          "start": 48777615,
          "end": 48777736
        },
        {
          "start": 48778108,
          "end": 48778257
        },
        {
          "start": 48782571,
          "end": 48783438
        },
        {
          "start": 48788906,
          "end": 48789089
        }
      ],
      "cds": {
        "start": 48768591,
        "end": 48783434
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 49159975,
      "end": 49182820,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 48277642,
      "end": 49277641,
      "genes": [
        {
          "symbol": "H1-7",
          "ensemblId": "ENSG00000187166",
          "biotype": "protein_coding",
          "start": 48328980,
          "end": 48330279,
          "strand": "+",
          "slug": "h1-7"
        },
        {
          "symbol": "ZNF641",
          "ensemblId": "ENSG00000167528",
          "biotype": "protein_coding",
          "start": 48337180,
          "end": 48351414,
          "strand": "-",
          "slug": "znf641"
        },
        {
          "symbol": "ANP32D",
          "ensemblId": "ENSG00000139223",
          "biotype": "protein_coding",
          "start": 48472559,
          "end": 48473622,
          "strand": "+",
          "slug": "anp32d"
        },
        {
          "symbol": "LYLDT1",
          "ensemblId": "ENSG00000177627",
          "biotype": "protein_coding",
          "start": 48482498,
          "end": 48496524,
          "strand": "+",
          "slug": "lyldt1"
        },
        {
          "symbol": "OR8S1",
          "ensemblId": "ENSG00000284723",
          "biotype": "protein_coding",
          "start": 48525632,
          "end": 48526570,
          "strand": "+",
          "slug": "or8s1"
        },
        {
          "symbol": "OR5BS1",
          "ensemblId": "ENSG00000198678",
          "biotype": "protein_coding",
          "start": 48559882,
          "end": 48562956,
          "strand": "+",
          "slug": "or5bs1"
        },
        {
          "symbol": "LALBA",
          "ensemblId": "ENSG00000167531",
          "biotype": "protein_coding",
          "start": 48567684,
          "end": 48571865,
          "strand": "-",
          "slug": "lalba"
        },
        {
          "symbol": "KANSL2",
          "ensemblId": "ENSG00000139620",
          "biotype": "protein_coding",
          "start": 48653211,
          "end": 48682265,
          "strand": "-",
          "slug": "kansl2"
        },
        {
          "symbol": "CCNT1",
          "ensemblId": "ENSG00000129315",
          "biotype": "protein_coding",
          "start": 48687601,
          "end": 48716998,
          "strand": "-",
          "slug": "ccnt1"
        },
        {
          "symbol": "SPMIP11",
          "ensemblId": "ENSG00000257987",
          "biotype": "protein_coding",
          "start": 48727435,
          "end": 48765790,
          "strand": "+",
          "slug": "spmip11"
        },
        {
          "symbol": "CACNB3",
          "ensemblId": "ENSG00000167535",
          "biotype": "protein_coding",
          "start": 48813794,
          "end": 48828942,
          "strand": "+",
          "slug": "cacnb3"
        },
        {
          "symbol": "DDX23",
          "ensemblId": "ENSG00000174243",
          "biotype": "protein_coding",
          "start": 48829756,
          "end": 48852842,
          "strand": "-",
          "slug": "ddx23"
        },
        {
          "symbol": "RND1",
          "ensemblId": "ENSG00000172602",
          "biotype": "protein_coding",
          "start": 48857134,
          "end": 48865870,
          "strand": "-",
          "slug": "rnd1"
        },
        {
          "symbol": "ARF3",
          "ensemblId": "ENSG00000134287",
          "biotype": "protein_coding",
          "start": 48903141,
          "end": 48957531,
          "strand": "-",
          "slug": "arf3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272822",
          "biotype": "protein_coding",
          "start": 48903503,
          "end": 48957365,
          "strand": "-"
        },
        {
          "symbol": "DRC2",
          "ensemblId": "ENSG00000139537",
          "biotype": "protein_coding",
          "start": 48904105,
          "end": 48931840,
          "strand": "+",
          "slug": "drc2"
        },
        {
          "symbol": "FKBP11",
          "ensemblId": "ENSG00000134285",
          "biotype": "protein_coding",
          "start": 48921518,
          "end": 48927909,
          "strand": "-",
          "slug": "fkbp11"
        },
        {
          "symbol": "WNT10B",
          "ensemblId": "ENSG00000169884",
          "biotype": "protein_coding",
          "start": 48965185,
          "end": 48972669,
          "strand": "-",
          "slug": "wnt10b"
        },
        {
          "symbol": "WNT1",
          "ensemblId": "ENSG00000125084",
          "biotype": "protein_coding",
          "start": 48978322,
          "end": 48982620,
          "strand": "+",
          "slug": "wnt1"
        },
        {
          "symbol": "DDN",
          "ensemblId": "ENSG00000181418",
          "biotype": "protein_coding",
          "start": 48995149,
          "end": 48999375,
          "strand": "-",
          "slug": "ddn"
        },
        {
          "symbol": "PRKAG1",
          "ensemblId": "ENSG00000181929",
          "biotype": "protein_coding",
          "start": 49002272,
          "end": 49018820,
          "strand": "-",
          "slug": "prkag1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288710",
          "biotype": "protein_coding",
          "start": 49002274,
          "end": 49024075,
          "strand": "-"
        },
        {
          "symbol": "KMT2D",
          "ensemblId": "ENSG00000167548",
          "biotype": "protein_coding",
          "start": 49018975,
          "end": 49060794,
          "strand": "-",
          "slug": "kmt2d"
        },
        {
          "symbol": "RHEBL1",
          "ensemblId": "ENSG00000167550",
          "biotype": "protein_coding",
          "start": 49064675,
          "end": 49070127,
          "strand": "-",
          "slug": "rhebl1"
        },
        {
          "symbol": "DHH",
          "ensemblId": "ENSG00000139549",
          "biotype": "protein_coding",
          "start": 49086656,
          "end": 49094807,
          "strand": "-",
          "slug": "dhh"
        },
        {
          "symbol": "LMBR1L",
          "ensemblId": "ENSG00000139636",
          "biotype": "protein_coding",
          "start": 49096550,
          "end": 49110900,
          "strand": "-",
          "slug": "lmbr1l"
        },
        {
          "symbol": "TUBA1B",
          "ensemblId": "ENSG00000123416",
          "biotype": "protein_coding",
          "start": 49127780,
          "end": 49131398,
          "strand": "-",
          "slug": "tuba1b"
        },
        {
          "symbol": "TUBA1A",
          "ensemblId": "ENSG00000167552",
          "biotype": "protein_coding",
          "start": 49184146,
          "end": 49189324,
          "strand": "-",
          "slug": "tuba1a"
        },
        {
          "symbol": "TUBA1C",
          "ensemblId": "ENSG00000167553",
          "biotype": "protein_coding",
          "start": 49188736,
          "end": 49274600,
          "strand": "+",
          "slug": "tuba1c"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "distal-arthrogryposis",
        "name": "Distal arthrogryposis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-arthrogryposis"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "facial-diplegia",
        "name": "Facial diplegia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/facial-diplegia"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "vocal-cord-paralysis",
        "name": "Inability to move vocal cords",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vocal-cord-paralysis"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "limitation-of-joint-mobility",
        "name": "Limitation of joint mobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limitation-of-joint-mobility"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "oral-pharyngeal-dysphagia",
        "name": "Oral-pharyngeal dysphagia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/oral-pharyngeal-dysphagia"
      },
      {
        "slug": "peripheral-hypomyelination",
        "name": "Peripheral hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peripheral-hypomyelination"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}