AutismKB 2.0

Annotation Detail for OBSCN


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Basic Information Top
Gene Symbol:OBSCN ( ARHGEF30,DKFZp666E245,FLJ14124,KIAA1556,KIAA1639,MGC120409,MGC120410,MGC120411,MGC120412,MGC138590,UNC89 )
Gene Full Name: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Band: 1q42.13
Quick LinksEntrez ID:84033; OMIM: 608616; Uniprot ID:OBSCN_HUMAN; ENSEMBL ID: ENSG00000154358; HGNC ID: 15719
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Signaling by GPCR
Signalling by NGF
Signaling by Rho GTPases
Pathway IDPathway Name
200050Regulation of RhoA activity
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of OBSCN mRNAaffects expression 16483693
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of OBSCN mRNAincreases expression 20360939
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of OBSCN mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of OBSCN mRNAaffects cotreatment|increases expression 17942748
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of OBSCN mRNAaffects cotreatment|increases expression 17183730
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of OBSCN mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of OBSCN mRNAincreases expression 19482888
D018038 Sodium Selenite Sodium Selenite results in increased expression of OBSCN mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of OBSCN mRNAaffects cotreatment|increases expression 17942748
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of OBSCN mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 16.276195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 16.2715322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 16.278875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1719490988
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D000236 Adenoma Diethylnitrosamine 2.9810737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 19.4218056438 16434500 17162532 19052882 17620307 19061943
MESH:D018248 Adenoma, Liver Cell Phenobarbital 19.4217620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 19.4216835633
MESH:D000550 Amblyopia Valproic Acid 5.6117688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.7617497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder Valproic Acid 1.9918396377 18316065 17688650 17157402 19460635 15238991 18177632 18985861 19232924 17507914 16609825 18558336 18940202 20603192 18775368
MESH:D001714 Bipolar Disorder Valproic Acid 3.1820046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.5015746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.508888407
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9417474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 3.1416328049 20007298 16935385 18056438 19539802 19418558 17055752 3581430 16569478 19052882 19383236 10737359 16698587 16807293 17173139 18210153 19919837 3084413 18978308 18665156 20512989 19822196 20727157 18785209 16540662 11831363 16878318 21159647 19208518 18971187 17761372 19335982 17162532 20432363 19171122 19519916 20514400 20935162 18494052 16681979 19107877 16779866 18393292 19394651 19701751 20084675 17138121 18691550 20101231 17428255 16830150 20524982 20214788 18506893 17978847 10672840 18788625 16502159 16288022
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.1420007298 17173139 20935162 1701930 6705139
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.0121159647 17174075 7505956 2727394
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.564080065
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7820734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 10.0519052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 10.0516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0517333356 17681005 15861022 16105132 16919318 17110522 11677210
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0615894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1915668235 12621046 16354765 15340226 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5310048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.538888407 17688650 16575769
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9916285004
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3820387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3817107852
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 9.5019107877
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.5015131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.5020420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 9.501733752 19641884
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004421 Dystonia Phenobarbital 11.321851702
MESH:D004421 Dystonia Valproic Acid 11.321851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2815322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 11.843659116
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 11.8417275665 3659116
MESH:D004828 Epilepsies, Partial Phenobarbital 11.263922381 11558140
MESH:D004828 Epilepsies, Partial Valproic Acid 11.263922381 16628512
MESH:D004827 Epilepsy Phenobarbital 7.0320417680
MESH:D004827 Epilepsy Valproic Acid 7.0318234410 20417680
MESH:D004832 Epilepsy, Absence Phenobarbital 9.596401628
MESH:D004832 Epilepsy, Absence Valproic Acid 9.596254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 12.357750514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 12.357750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 11.633659116
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 11.633659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4916302075
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Diethylnitrosamine 14.5720387270 21071580
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.5715345470
MESH:D005234 Fatty Liver Valproic Acid 14.5719224547 14986274
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005315 Fetal Diseases Valproic Acid 5.2616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.418888407 18558336
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Phenobarbital 9.4816109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.4812621046 15340226 16120746
MESH:D006849 Hydrocephalus Valproic Acid 5.2017688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4215340226 16959395 16354765 8697196 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.9316612254
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Diethylnitrosamine 5.2718785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2712200463 12878042
MESH:D007333 Insulin Resistance Sodium Selenite 3.4214714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1816294345 17596541
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 7.0419638242 18522880 18407596 18665156 20032147
MESH:D008103 Liver Cirrhosis Phenobarbital 7.0421047994
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Diethylnitrosamine 4.2817034775
MESH:D008107 Liver Diseases Phenobarbital 4.2819363144
MESH:D008113 Liver Neoplasms Diethylnitrosamine 7.8615885732 19073162 20583210 19850985 18977376 21071580 19499222 18754104 12112319 20434301 21278145 9163691 19254457 20405173 20101389 10737359 19255062 20492335 19812893 21047994 19638242 19090486 19996281 19833225 21167192 18644402 20452335 20118626 18648771 19256749 15175105 18978307 19426721 19427195 20137499 20501860 19690152 2422723 12771043 2862719 19294768 19551842 19642983 16942905
MESH:D008113 Liver Neoplasms Phenobarbital 7.8619812893 19073162 19482888 21047994 15975961 8742319
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8616984957
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.6418775883 19539802 19519916 18079962 17854601 21159647 19004024 18282651 3124819 16267830 17942915 18544905 17174075 18308698 18164116 16842330 18253720 19009564 9362446 18093689 2563599 19126423
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 10.642563599 1399818 18308698 6150874 17172636
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.6412151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.6417228818
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.3120970405 6695378 20512841 21163286
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3111884234 19555203
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.3214737004
MESH:D008881 Migraine Disorders Valproic Acid 3.3618765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.278888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2817596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8117484760
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.659029167 3581430
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.2716359493 8888407
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.5420387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4920387270
MESH:D010018 Osteomalacia Phenobarbital 4.7017016548
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.5116540662
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.5116965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.822563599
MESH:D011230 Precancerous Conditions Phenobarbital 9.822563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.6111399792 11896295 11222880 11118676
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.6120603192
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3518760546
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D019310 Pseudolymphoma Phenobarbital 13.4812752131
MESH:D019310 Pseudolymphoma Valproic Acid 13.4811422049 12752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4419155313
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Phenobarbital 6.533137016 4039156 16876388 11442880
MESH:D012640 Seizures Valproic Acid 6.5311044598 15475178 3137016 14763951 1511512 16876388 11738929 17978042
MESH:D003294 Seizures, Febrile Phenobarbital 5.166407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9212833885
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.797505956
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.791399818
MESH:D014178 Translocation, Genetic Valproic Acid 5.6117262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.863119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.958888407
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
Pathway ID Pathway Name
REACT:14797 Signaling by GPCR
REACT:11044 Signaling by Rho GTPases
REACT:11061 Signalling by NGF
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31888
    • No data
    Releated disease ID Related disease Name
    PA443756Colonic Neoplasms
    PA443560Breast Neoplasms
    No data
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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