{
  "url": "https://dantelabs.com/sv/genes/camkmt",
  "gene": {
    "slug": "camkmt",
    "symbol": "CAMKMT",
    "name": "calmodulin-lysine N-methyltransferase",
    "hgnc": "HGNC:26276",
    "summary": null,
    "location": "2p21",
    "locusType": "gene with protein product",
    "aliases": [
      "CLNMT"
    ],
    "previousSymbols": [
      "C2orf34"
    ],
    "ensemblId": "ENSG00000143919",
    "entrezId": 79823,
    "omim": [
      "609559"
    ],
    "uniprot": [
      "Q7Z624"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 44361947,
      "end": 44772592,
      "strand": "+",
      "ensemblTranscript": "ENST00000378494.8",
      "refseqTranscript": "NM_024766.5",
      "ensemblProtein": "ENSP00000367755.3",
      "refseqProtein": "NP_079042.1",
      "exons": [
        {
          "start": 44361947,
          "end": 44362145
        },
        {
          "start": 44372716,
          "end": 44372888
        },
        {
          "start": 44390241,
          "end": 44390305
        },
        {
          "start": 44704283,
          "end": 44704343
        },
        {
          "start": 44706287,
          "end": 44706341
        },
        {
          "start": 44707399,
          "end": 44707462
        },
        {
          "start": 44715287,
          "end": 44715353
        },
        {
          "start": 44743622,
          "end": 44743696
        },
        {
          "start": 44754055,
          "end": 44754118
        },
        {
          "start": 44766430,
          "end": 44766561
        },
        {
          "start": 44772036,
          "end": 44772592
        }
      ],
      "cds": {
        "start": 44362008,
        "end": 44772113
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 44589089,
      "end": 44999731,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 43951301,
      "end": 45183238,
      "genes": [
        {
          "symbol": "LRPPRC",
          "ensemblId": "ENSG00000138095",
          "biotype": "protein_coding",
          "start": 43886224,
          "end": 43996226,
          "strand": "-",
          "slug": "lrpprc"
        },
        {
          "symbol": "PPM1B",
          "ensemblId": "ENSG00000138032",
          "biotype": "protein_coding",
          "start": 44167969,
          "end": 44244384,
          "strand": "+",
          "slug": "ppm1b"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285542",
          "biotype": "protein_coding",
          "start": 44168851,
          "end": 44320310,
          "strand": "+"
        },
        {
          "symbol": "SLC3A1",
          "ensemblId": "ENSG00000138079",
          "biotype": "protein_coding",
          "start": 44275458,
          "end": 44322674,
          "strand": "+",
          "slug": "slc3a1"
        },
        {
          "symbol": "PREPL",
          "ensemblId": "ENSG00000138078",
          "biotype": "protein_coding",
          "start": 44316185,
          "end": 44361862,
          "strand": "-",
          "slug": "prepl"
        },
        {
          "symbol": "SIX3",
          "ensemblId": "ENSG00000138083",
          "biotype": "protein_coding",
          "start": 44941696,
          "end": 44946071,
          "strand": "+",
          "slug": "six3"
        },
        {
          "symbol": "SIX2",
          "ensemblId": "ENSG00000170577",
          "biotype": "protein_coding",
          "start": 45005182,
          "end": 45009520,
          "strand": "-",
          "slug": "six2"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "cystinuria",
        "name": "High urine cystine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cystinuria"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "long-eyelashes",
        "name": "Long eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/long-eyelashes"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "mitochondrial-respiratory-chain-defects",
        "name": "Mitochondrial respiratory chain defects",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mitochondrial-respiratory-chain-defects"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}