AutismKB 2.0

Annotation Detail for OTOF


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:OTOF ( AUNB1,DFNB6,DFNB9,FER1L2,NSRD9 )
Gene Full Name: otoferlin
Band: 2p23.3
Quick LinksEntrez ID:9381; OMIM: 603681; Uniprot ID:OTOF_HUMAN; ENSEMBL ID: ENSG00000115155; HGNC ID: 8515
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1791Neuropathy
2207Deafness
Desease Name
Hearing Loss, Sensorineural
No data
Desease Name
Auditory neuropathy, autosomal recessive, 1
Deafness, autosomal recessive 9
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of OTOF mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of OTOF mRNAaffects expression 16483693
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of OTOF mRNAaffects cotreatment|increases expression 17942748
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of OTOF exonincreases mutagenesis 17967520
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of OTOF geneincreases mutagenesis 17329413
D018038 Sodium Selenite Sodium Selenite results in increased expression of OTOF mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of OTOF mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D000236 Adenoma Ethylnitrosourea 3.886695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001927 Brain Diseases Ethylnitrosourea 5.1914991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.5916651633 16357521 16436596 15144691 18412241
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 16120746 18850075
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 3.9316003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.5017160924
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1011677210 16919318 17110522 17333356 15861022 16105132 17681005
MESH:D019457 Chromosome Breakage Sodium Selenite 5.1715894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2112621046 15340226 15668235 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D003638 Deafness marker/mechanism 17967520
OMIM:601071 DEAFNESS, AUTOSOMAL RECESSIVE 9 marker/mechanism
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.0616285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.6116177239 11739529 16485898 14550746 10915739 10774834 16227642 12392966 15968718 12540782 17522070 12153990 11421492 11743745 19923254 18071297 19739265 15619225 16109766 11461765 14725611 11529661 12958197 19420014 11287661 18713872 19085960 19416960 16781746 10663392 11834606 12705907 16081117 17562736 12594235 19370779 19164858 16393943 14986274 17906064 2444490
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 6.6115131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6120420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.5018357618
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4216714409 18230668 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005909 Glioblastoma Ethylnitrosourea 4.0216436596
MESH:D005910 Glioma Ethylnitrosourea 3.5916651633 16357521 18412241
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4710048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3115340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.578697196 16959395 16354765 18606429 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007333 Insulin Resistance Sodium Selenite 3.4714714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3612587719 15629191
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.2017379185
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6916611625 16610002 19784758 12587719 12969438 19014921 19460945 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5417185352 16871587
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8116984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms Ethylnitrosourea 2.6516019985 17703301 16271038 6695378
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.6511884234 19555203
MESH:D008223 Lymphoma Ethylnitrosourea 4.1615790496
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4114737004
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.4715375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.7010767621 10838139 18041768
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D008579 Meningioma Ethylnitrosourea 6.5017943659
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.8216707424
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.8816651423 16003739 17160924
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.5017160924
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11118676 11222880 11896295
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3418760546
MESH:D011537 Pruritus Ethinyl Estradiol 3.7715861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.6215790496
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA32841
    • No data
    Releated disease ID Related disease Name
    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


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved