AutismKB 2.0

Annotation Detail for THUMPD1


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Basic Information Top
Gene Symbol:THUMPD1 ( DKFZp686C1054 )
Gene Full Name: THUMP domain containing 1
Band: 16p12.3
Quick LinksEntrez ID:55623; OMIM: NA; Uniprot ID:THUM1_HUMAN; ENSEMBL ID: ENSG00000066654; HGNC ID: 23807
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of THUMPD1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of THUMPD1 mRNAaffects expression 17562736
D001374 Azacitidine Azacitidine results in increased expression of THUMPD1 mRNAincreases expression 19194470
C014347 decitabine decitabine results in increased expression of THUMPD1 mRNAincreases expression 19194470
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of THUMPD1 mRNAaffects cotreatment|increases expression 17942748
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in decreased expression of THUMPD1 mRNAdecreases expression 17616710
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of THUMPD1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of THUMPD1 mRNAincreases expression 19482888
D012643 Selenium Selenium results in decreased expression of THUMPD1 mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of THUMPD1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.266195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.2615322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.0517620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.0516835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms decitabine 2.0719208741 18320071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.6816705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.683084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.6820007298 6705139 1701930 17173139 20935162
MESH:D002294 Carcinoma, Squamous Cell decitabine 2.6419215824
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4716120746 18850075 18670907
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.514080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0216105132 11677210 16919318 17333356 17681005 15861022 17110522
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.188697196 15340226 16354765 12621046 15668235
MESH:D003092 Colitis Selenium 4.0417936198
MESH:D003110 Colonic Neoplasms decitabine 2.3617616700
MESH:D015179 Colorectal Neoplasms Azacitidine 2.9419934284
MESH:D015179 Colorectal Neoplasms decitabine 2.9418981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.2718551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.4018551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.4016227642 11287661 12594235 18071297 16081117 12705907 19164858 10915739 14550746 19416960 11529661 11421492 15968718 17522070 18713872 16781746 19420014 17906064 16485898 11461765 14986274 12153990 16109766 14725611 16177239 19739265 11743745 10663392 16393943 11739529 19923254 12540782 11834606 2444490 19370779 17562736 10774834 12392966 19085960 12958197 15619225
MESH:D056486 Drug-Induced Liver Injury Selenium 9.4015131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.4020420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004421 Dystonia Phenobarbital 4.221851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.4319294695
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.373659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.193922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9820417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.726401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.303659116
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8215150132 15623463 16510608 15264214 15547733 16704527 16805852 15547721 15878914
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.0215345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.6219215824
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4310048152 11294989
MESH:D006333 Heart Failure Selenium 3.1917162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly Phenobarbital 9.3216109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.3216120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3616354765 15340226 8697196 16959395 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male decitabine 7.1617581917
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.1617937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512878042 12200463
MESH:D007251 Influenza, Human Selenium 4.5116624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3015629191 12587719
MESH:D007676 Kidney Failure, Chronic Selenium 4.0916518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.1416705839
MESH:D007938 Leukemia Azacitidine 7.0819148494
MESH:D007938 Leukemia decitabine 7.0818980019 19235587
MESH:D007951 Leukemia, Myeloid Azacitidine 10.6019077051
MESH:D007951 Leukemia, Myeloid decitabine 10.6018454857 17236224 19117987
MESH:D015470 Leukemia, Myeloid, Acute Azacitidine 4.4117596541 18720364
MESH:D015470 Leukemia, Myeloid, Acute decitabine 4.4119387464 17679729 18460780 18704418 18206229 19010910
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.7818055864
MESH:D054429 Leukemia, Myelomonocytic, Juvenile Azacitidine 5.4119299654
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0021047994
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 4.0819784758 16610002 12587719 16611625 19014921 12969438 19460945 11587558
MESH:D008107 Liver Diseases Phenobarbital 4.0819363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4317185352 16871587
MESH:D008113 Liver Neoplasms Phenobarbital 4.658742319 19482888 21047994 19812893 19073162 15975961
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6516984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.191399818 17172636 18308698 6150874 2563599
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1912151625
MESH:D008175 Lung Neoplasms Azacitidine 2.6621224363
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.6611884234 19555203
MESH:D008223 Lymphoma decitabine 3.5619470736
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8815318939
MESH:D008545 Melanoma decitabine 2.2717785578 16505122
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D008654 Mesothelioma Selenium 2.8615107826
MESH:D009006 Monosomy Azacitidine 6.4019299654
MESH:D009101 Multiple Myeloma Azacitidine 8.1719549372 18443271
MESH:D009101 Multiple Myeloma decitabine 8.1718172295
MESH:D009190 Myelodysplastic Syndromes Azacitidine 8.1817596541 19805378 18720364 17611569
MESH:D009190 Myelodysplastic Syndromes decitabine 8.1816882708 19157545 18608210 19010910
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7617484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.1418551238
MESH:D009369 Neoplasms decitabine 2.8017925555 19116145 19470736
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.6216049721 12819281
MESH:D010018 Osteomalacia Phenobarbital 4.6517016548
MESH:D010051 Ovarian Neoplasms decitabine 2.7019331143 19259094
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D010190 Pancreatic Neoplasms decitabine 5.6019294695
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.6016965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010954 Plasmacytoma Selenium 5.2115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.802563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811399792 11896295 11118676 11222880
MESH:D055728 Primary Myelofibrosis decitabine 4.9917616702
MESH:D011471 Prostatic Neoplasms Azacitidine 4.1018324645
MESH:D011537 Pruritus Ethinyl Estradiol 3.6015861022 16919318
MESH:D019310 Pseudolymphoma Phenobarbital 4.8112752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012208 Rhabdomyosarcoma decitabine 4.6219155313
MESH:D012640 Seizures 2,4-dinitrotoluene 6.3818551238
MESH:D012640 Seizures Phenobarbital 6.384039156 3137016 11442880 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 5.116407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D013274 Stomach Neoplasms decitabine 2.7819037991
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.7817575124 12958204
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms decitabine 7.8317967635
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.831399818
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.4016049721
MESH:D001749 Urinary Bladder Neoplasms decitabine 5.4017616700 19087683
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.6010091137
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014604 Uveal Neoplasms decitabine 5.2317785578
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
No data
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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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