{
  "url": "https://dantelabs.com/ko/genes/obscn",
  "gene": {
    "slug": "obscn",
    "symbol": "OBSCN",
    "name": "obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF",
    "hgnc": "HGNC:15719",
    "summary": null,
    "location": "1q42.13",
    "locusType": "gene with protein product",
    "aliases": [
      "KIAA1556",
      "UNC89",
      "KIAA1639",
      "ARHGEF30"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000154358",
    "entrezId": 84033,
    "omim": [
      "608616"
    ],
    "uniprot": [
      "Q5VST9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 228208044,
      "end": 228378876,
      "strand": "+",
      "ensemblTranscript": "ENST00000680850.1",
      "refseqTranscript": "NM_001386125.1",
      "ensemblProtein": "ENSP00000505517.1",
      "refseqProtein": "NP_001373054.1",
      "exons": [
        {
          "start": 228208044,
          "end": 228208185
        },
        {
          "start": 228211766,
          "end": 228212771
        },
        {
          "start": 228213441,
          "end": 228213710
        },
        {
          "start": 228214174,
          "end": 228214434
        },
        {
          "start": 228214790,
          "end": 228215098
        },
        {
          "start": 228215563,
          "end": 228215829
        },
        {
          "start": 228216421,
          "end": 228216702
        },
        {
          "start": 228217013,
          "end": 228217288
        },
        {
          "start": 228219324,
          "end": 228219599
        },
        {
          "start": 228224459,
          "end": 228224734
        },
        {
          "start": 228243183,
          "end": 228243458
        },
        {
          "start": 228244296,
          "end": 228244571
        },
        {
          "start": 228245413,
          "end": 228245688
        },
        {
          "start": 228246528,
          "end": 228246803
        },
        {
          "start": 228249965,
          "end": 228250240
        },
        {
          "start": 228256651,
          "end": 228256926
        },
        {
          "start": 228259501,
          "end": 228259776
        },
        {
          "start": 228264116,
          "end": 228264391
        },
        {
          "start": 228268530,
          "end": 228268805
        },
        {
          "start": 228271925,
          "end": 228272221
        },
        {
          "start": 228273272,
          "end": 228273547
        },
        {
          "start": 228273770,
          "end": 228274048
        },
        {
          "start": 228274178,
          "end": 228274444
        },
        {
          "start": 228274572,
          "end": 228274841
        },
        {
          "start": 228275760,
          "end": 228276026
        },
        {
          "start": 228276450,
          "end": 228276716
        },
        {
          "start": 228276930,
          "end": 228277042
        },
        {
          "start": 228277160,
          "end": 228277313
        },
        {
          "start": 228277505,
          "end": 228277666
        },
        {
          "start": 228277754,
          "end": 228277858
        },
        {
          "start": 228278689,
          "end": 228278955
        },
        {
          "start": 228279175,
          "end": 228279444
        },
        {
          "start": 228279821,
          "end": 228280087
        },
        {
          "start": 228280179,
          "end": 228280445
        },
        {
          "start": 228280530,
          "end": 228280796
        },
        {
          "start": 228281933,
          "end": 228282205
        },
        {
          "start": 228283018,
          "end": 228283284
        },
        {
          "start": 228283503,
          "end": 228283769
        },
        {
          "start": 228286078,
          "end": 228286350
        },
        {
          "start": 228286773,
          "end": 228287039
        },
        {
          "start": 228287694,
          "end": 228287960
        },
        {
          "start": 228288061,
          "end": 228288324
        },
        {
          "start": 228288625,
          "end": 228288888
        },
        {
          "start": 228291898,
          "end": 228292161
        },
        {
          "start": 228292523,
          "end": 228292786
        },
        {
          "start": 228293353,
          "end": 228293616
        },
        {
          "start": 228294152,
          "end": 228294415
        },
        {
          "start": 228294780,
          "end": 228295043
        },
        {
          "start": 228298454,
          "end": 228298717
        },
        {
          "start": 228299259,
          "end": 228299522
        },
        {
          "start": 228299882,
          "end": 228300145
        },
        {
          "start": 228303675,
          "end": 228303938
        },
        {
          "start": 228304303,
          "end": 228304566
        },
        {
          "start": 228305123,
          "end": 228305386
        },
        {
          "start": 228306372,
          "end": 228306638
        },
        {
          "start": 228306901,
          "end": 228307167
        },
        {
          "start": 228307259,
          "end": 228307531
        },
        {
          "start": 228308111,
          "end": 228308383
        },
        {
          "start": 228309099,
          "end": 228309295
        },
        {
          "start": 228309484,
          "end": 228309559
        },
        {
          "start": 228315847,
          "end": 228316119
        },
        {
          "start": 228316709,
          "end": 228316984
        },
        {
          "start": 228317464,
          "end": 228317751
        },
        {
          "start": 228317892,
          "end": 228318173
        },
        {
          "start": 228318884,
          "end": 228319254
        },
        {
          "start": 228321344,
          "end": 228322214
        },
        {
          "start": 228323328,
          "end": 228323606
        },
        {
          "start": 228332860,
          "end": 228332938
        },
        {
          "start": 228333199,
          "end": 228333323
        },
        {
          "start": 228333583,
          "end": 228333780
        },
        {
          "start": 228334512,
          "end": 228334544
        },
        {
          "start": 228334815,
          "end": 228334913
        },
        {
          "start": 228335080,
          "end": 228335298
        },
        {
          "start": 228335791,
          "end": 228335851
        },
        {
          "start": 228336200,
          "end": 228336270
        },
        {
          "start": 228337004,
          "end": 228337126
        },
        {
          "start": 228337244,
          "end": 228337383
        },
        {
          "start": 228337944,
          "end": 228338144
        },
        {
          "start": 228338290,
          "end": 228338372
        },
        {
          "start": 228338853,
          "end": 228339026
        },
        {
          "start": 228339945,
          "end": 228340101
        },
        {
          "start": 228340506,
          "end": 228340622
        },
        {
          "start": 228340724,
          "end": 228340888
        },
        {
          "start": 228341095,
          "end": 228341253
        },
        {
          "start": 228341437,
          "end": 228341614
        },
        {
          "start": 228342119,
          "end": 228342232
        },
        {
          "start": 228349890,
          "end": 228350057
        },
        {
          "start": 228350841,
          "end": 228350943
        },
        {
          "start": 228351321,
          "end": 228351450
        },
        {
          "start": 228352951,
          "end": 228353062
        },
        {
          "start": 228362576,
          "end": 228362755
        },
        {
          "start": 228364981,
          "end": 228365077
        },
        {
          "start": 228365436,
          "end": 228365560
        },
        {
          "start": 228366074,
          "end": 228366186
        },
        {
          "start": 228366400,
          "end": 228366568
        },
        {
          "start": 228366808,
          "end": 228366889
        },
        {
          "start": 228366975,
          "end": 228367175
        },
        {
          "start": 228367886,
          "end": 228367946
        },
        {
          "start": 228368339,
          "end": 228368416
        },
        {
          "start": 228368722,
          "end": 228368894
        },
        {
          "start": 228369136,
          "end": 228369162
        },
        {
          "start": 228369942,
          "end": 228370094
        },
        {
          "start": 228370193,
          "end": 228370238
        },
        {
          "start": 228370679,
          "end": 228370756
        },
        {
          "start": 228371023,
          "end": 228373081
        },
        {
          "start": 228373932,
          "end": 228374012
        },
        {
          "start": 228374314,
          "end": 228374424
        },
        {
          "start": 228374585,
          "end": 228374752
        },
        {
          "start": 228375702,
          "end": 228375824
        },
        {
          "start": 228376008,
          "end": 228376178
        },
        {
          "start": 228376793,
          "end": 228376874
        },
        {
          "start": 228377052,
          "end": 228377291
        },
        {
          "start": 228377489,
          "end": 228377712
        },
        {
          "start": 228377931,
          "end": 228378006
        },
        {
          "start": 228378271,
          "end": 228378420
        },
        {
          "start": 228378618,
          "end": 228378876
        }
      ],
      "cds": {
        "start": 228211784,
        "end": 228378795
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 228395831,
      "end": 228566577,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 227793460,
      "end": 228793459,
      "genes": [
        {
          "symbol": "PRSS38",
          "ensemblId": "ENSG00000185888",
          "biotype": "protein_coding",
          "start": 227815675,
          "end": 227846478,
          "strand": "+",
          "slug": "prss38"
        },
        {
          "symbol": "WNT9A",
          "ensemblId": "ENSG00000143816",
          "biotype": "protein_coding",
          "start": 227918656,
          "end": 227947939,
          "strand": "-",
          "slug": "wnt9a"
        },
        {
          "symbol": "WNT3A",
          "ensemblId": "ENSG00000154342",
          "biotype": "protein_coding",
          "start": 228006924,
          "end": 228061328,
          "strand": "+",
          "slug": "wnt3a"
        },
        {
          "symbol": "ARF1",
          "ensemblId": "ENSG00000143761",
          "biotype": "protein_coding",
          "start": 228081841,
          "end": 228099212,
          "strand": "+",
          "slug": "arf1"
        },
        {
          "symbol": "C1orf35",
          "ensemblId": "ENSG00000143793",
          "biotype": "protein_coding",
          "start": 228099030,
          "end": 228105411,
          "strand": "-",
          "slug": "c1orf35"
        },
        {
          "symbol": "MRPL55",
          "ensemblId": "ENSG00000162910",
          "biotype": "protein_coding",
          "start": 228105949,
          "end": 228109358,
          "strand": "-",
          "slug": "mrpl55"
        },
        {
          "symbol": "GUK1",
          "ensemblId": "ENSG00000143774",
          "biotype": "protein_coding",
          "start": 228139962,
          "end": 228148984,
          "strand": "+",
          "slug": "guk1"
        },
        {
          "symbol": "GJC2",
          "ensemblId": "ENSG00000198835",
          "biotype": "protein_coding",
          "start": 228149891,
          "end": 228159826,
          "strand": "+",
          "slug": "gjc2"
        },
        {
          "symbol": "IBA57",
          "ensemblId": "ENSG00000181873",
          "biotype": "protein_coding",
          "start": 228165777,
          "end": 228182257,
          "strand": "+",
          "slug": "iba57"
        },
        {
          "symbol": "TRIM11",
          "ensemblId": "ENSG00000154370",
          "biotype": "protein_coding",
          "start": 228393672,
          "end": 228406841,
          "strand": "-",
          "slug": "trim11"
        },
        {
          "symbol": "TRIM17",
          "ensemblId": "ENSG00000162931",
          "biotype": "protein_coding",
          "start": 228406860,
          "end": 228416902,
          "strand": "-",
          "slug": "trim17"
        },
        {
          "symbol": "H3-4",
          "ensemblId": "ENSG00000168148",
          "biotype": "protein_coding",
          "start": 228424845,
          "end": 228425360,
          "strand": "-",
          "slug": "h3-4"
        },
        {
          "symbol": "H2AC25",
          "ensemblId": "ENSG00000181218",
          "biotype": "protein_coding",
          "start": 228434777,
          "end": 228457873,
          "strand": "-",
          "slug": "h2ac25"
        },
        {
          "symbol": "H2BC26",
          "ensemblId": "ENSG00000196890",
          "biotype": "protein_coding",
          "start": 228458103,
          "end": 228463104,
          "strand": "+",
          "slug": "h2bc26"
        },
        {
          "symbol": "RNF187",
          "ensemblId": "ENSG00000168159",
          "biotype": "protein_coding",
          "start": 228487357,
          "end": 228499899,
          "strand": "+",
          "slug": "rnf187"
        },
        {
          "symbol": "RHOU",
          "ensemblId": "ENSG00000116574",
          "biotype": "protein_coding",
          "start": 228735147,
          "end": 228746669,
          "strand": "+",
          "slug": "rhou"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormality-of-glycolipid-metabolism",
        "name": "Abnormality of glycolipid metabolism",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-glycolipid-metabolism"
      },
      {
        "slug": "abnormality-of-jaw-muscles",
        "name": "Abnormality of jaw muscles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-jaw-muscles"
      },
      {
        "slug": "acute-kidney-injury",
        "name": "Acute kidney injury",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-kidney-injury"
      },
      {
        "slug": "rhabdomyolysis",
        "name": "Breakdown of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rhabdomyolysis"
      },
      {
        "slug": "centrally-nucleated-skeletal-muscle-fibers",
        "name": "Centrally nucleated skeletal muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers"
      },
      {
        "slug": "impaired-mastication",
        "name": "Chewing difficulties",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/impaired-mastication"
      },
      {
        "slug": "dark-urine",
        "name": "Dark urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dark-urine"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "disseminated-intravascular-coagulation",
        "name": "Disseminated intravascular coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/disseminated-intravascular-coagulation"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-aldolase-concentration",
        "name": "Elevated circulating aldolase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-aldolase-concentration"
      },
      {
        "slug": "exercise-induced-myalgia",
        "name": "Exercise-induced muscle pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-induced-myalgia"
      },
      {
        "slug": "exercise-induced-myoglobinuria",
        "name": "Exercise-induced myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exercise-induced-myoglobinuria"
      },
      {
        "slug": "fatigable-weakness-of-swallowing-muscles",
        "name": "Fatigable weakness of swallowing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-swallowing-muscles"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "hyperphosphatemia",
        "name": "High blood phosphate levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperphosphatemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "highly-elevated-creatine-kinase",
        "name": "Highly elevated creatine kinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/highly-elevated-creatine-kinase"
      },
      {
        "slug": "increased-circulating-lactate-dehydrogenase-concentration",
        "name": "Increased circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "hyperkalemia",
        "name": "Increased circulating potassium concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperkalemia"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "myositis",
        "name": "Muscle inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myositis"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neck-muscle-weakness",
        "name": "Neck muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neck-muscle-weakness"
      },
      {
        "slug": "oliguria",
        "name": "Oliguria",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oliguria"
      },
      {
        "slug": "proximal-upper-limb-muscle-weakness",
        "name": "Proximal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/proximal-upper-limb-muscle-weakness"
      },
      {
        "slug": "recurrent-myoglobinuria",
        "name": "Recurrent myoglobinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-myoglobinuria"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "type-2-muscle-fiber-atrophy",
        "name": "Type 2 muscle fiber atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-2-muscle-fiber-atrophy"
      },
      {
        "slug": "type-2-muscle-fiber-predominance",
        "name": "Type 2 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-2-muscle-fiber-predominance"
      },
      {
        "slug": "viral-infection-induced-rhabdomyolysis",
        "name": "Viral infection-induced rhabdomyolysis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/viral-infection-induced-rhabdomyolysis"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}