AutismKB 2.0

Annotation Detail for GTF2IRD1


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Basic Information Top
Gene Symbol:GTF2IRD1 ( BEN,CREAM1,GTF3,MUSTRD1,RBAP2,WBS,WBSCR11,WBSCR12,hMusTRD1alpha1 )
Gene Full Name: GTF2I repeat domain containing 1
Band: 7q11.23
Quick LinksEntrez ID:9569; OMIM: 604318; Uniprot ID:GT2D1_HUMAN; ENSEMBL ID: ENSG00000006704; HGNC ID: 4661
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03022Basal transcription factors
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of GTF2IRD1 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of GTF2IRD1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GTF2IRD1 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of GTF2IRD1 mRNAdecreases expression 20106945
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of GTF2IRD1 mRNAdecreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of GTF2IRD1 mRNAdecreases expression 15336504
D016572 Cyclosporine Cyclosporine results in increased expression of GTF2IRD1 mRNAincreases expression 20106945
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of GTF2IRD1 mRNAaffects cotreatment|increases expression 17942748
C002950 methylformamide methylformamide affects the expression of GTF2IRD1 mRNAaffects expression 17040096
C002950 methylformamide methylformamide analog affects the expression of GTF2IRD1 mRNAaffects expression 17040096
C006253 pirinixic acid pirinixic acid results in decreased expression of GTF2IRD1 mRNAdecreases expression 17426115
C006253 pirinixic acid pirinixic acid results in increased expression of GTF2IRD1 mRNAincreases expression 18301758
C025299 polyphenols polyphenols results in decreased expression of GTF2IRD1 mRNAdecreases expression 16293270
D011374 Progesterone Progesterone results in increased expression of GTF2IRD1 mRNAincreases expression 18037150
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of GTF2IRD1 mRNAaffects cotreatment|increases expression 17942748
D014810 Vitamin E Vitamin E results in decreased expression of GTF2IRD1 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9315322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.6418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0417505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.1718653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.2220127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.2214692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 6.703712494
MESH:D000236 Adenoma Benzo(a)pyrene 6.706695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.1816434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.1816835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0011748828
MESH:D000799 Angioedema Acetaminophen 3.9410982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1519183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.5411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6915885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.121440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.9519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.9512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8015746008
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.4317868700
MESH:D001930 Brain Injuries Progesterone 4.3315665606 15380490 15845082
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8320146248 17474063
MESH:D001943 Breast Neoplasms Progesterone 1.8317614352 15562024 16175315
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8320435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.0016050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8416835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 2.847296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.843084413
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.707296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0620419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3916120746 18850075 18670907
MESH:D002386 Cataract Acetaminophen 2.6110977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.357505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.3520889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.3512371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 19.559022650 19486331
MESH:D002779 Cholestasis Cyclosporine 19.5519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 19.5517681005 15861022 16919318 17110522 16105132 17333356 11677210
MESH:D002779 Cholestasis pirinixic acid 19.5519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1212621046 8697196 16354765 15340226 15668235
MESH:D003110 Colonic Neoplasms polyphenols 2.6816293270
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1117141729 14669216
MESH:D019465 Craniofacial Abnormalities marker/mechanism 20007321
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5010048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5019769572
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.878156756 14531868 18759878 11298694 12868966 2524372 8970840 11906362
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4518249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.553621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D003929 Diabetic Neuropathies Progesterone 4.5617187935
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.116679447 18692083 9328219 18289764 8291058 18648102 9653073 16192314 11289319 9022650 1440618 6482804 7440962
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.1116393943 14725611 15619225 14986274 10774834 11834606 19923254 19085960 10663392 11421492 2444490 11287661 12153990 11461765 12392966 17906064 18713872 16177239 19420014 16485898 12594235 16109766 19164858 10915739 11743745 19739265 11739529 17562736 11529661 12705907 12540782 17522070 14550746 12958197 15968718 16227642 16781746 19370779 18071297 19416960 16081117
MESH:D056486 Drug-Induced Liver Injury polyphenols 9.1119370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.1120420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1919426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8011462148
MESH:C538011 Eales disease Vitamin E 4.809068938
MESH:D004487 Edema pirinixic acid 6.7212083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.7211000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0016714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.2512538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 9.2517692515
MESH:D004715 Endometriosis Progesterone 9.1016134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.109294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 7.263581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.2620426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.2616530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0511564622
MESH:D005234 Fatty Liver Cyclosporine 13.3219224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.3215345470
MESH:D005234 Fatty Liver pirinixic acid 13.3220131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5311858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.126705139
MESH:D005355 Fibrosis Cyclosporine 8.7212639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.7220067830
MESH:D005756 Gastritis Acetaminophen 3.7716983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.308708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.107505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6910696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 11.2620471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.2610048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 11.2616080930
MESH:D006333 Heart Failure pirinixic acid 2.5720558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5015720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3911000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.586705139
MESH:D006529 Hepatomegaly pirinixic acid 8.5016221962 19176532 19772884 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.5016120746 12621046 15340226
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7216863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.0714716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1416959395 8697196 16354765 18606429 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.7416870215
MESH:D006943 Hyperglycemia pirinixic acid 3.2320558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0115034207
MESH:D006973 Hypertension Cyclosporine 5.0110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.0118670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8816569931 16945680
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.4715869954
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5217937319
MESH:D007249 Inflammation polyphenols 8.5516366677
MESH:D007249 Inflammation Progesterone 8.5515869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.5512200463 12878042
MESH:D007251 Influenza, Human Vitamin E 4.3116624496
MESH:D007333 Insulin Resistance pirinixic acid 2.6616306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.128074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3916580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5415604871
MESH:D007674 Kidney Diseases Acetaminophen 10.1815629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 10.188314463 10903974 18776723
MESH:D007674 Kidney Diseases Vitamin E 10.1812488133
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.426582329
MESH:D007680 Kidney Neoplasms Cyclosporine 7.4212371664
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.239327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4415474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4412878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.4416169303
MESH:D008107 Liver Diseases Acetaminophen 4.2019014921 16611625 19460945 16610002 12969438 12587719 19784758 11587558
MESH:D008107 Liver Diseases polyphenols 4.2016698588
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2917185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.4220195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 7.4220007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.4216984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 5.84598648 1399818 3712494 6587162
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.8412151625
MESH:D008171 Lung Diseases Vitamin E 3.2116863852
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.3917053015 18569708 20869020 20464547 6695378 18816296 20135361 20064080 18520028
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.3911884234 19555203
MESH:D008175 Lung Neoplasms Vitamin E 3.3911062179
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 2.9011408345 17203775
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6419513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8816801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2316381670
MESH:D009135 Muscular Diseases pirinixic acid 3.5816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1619151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9916411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.493581430
MESH:D009369 Neoplasms Benzo(a)pyrene 4.9011141357
MESH:D009369 Neoplasms pirinixic acid 4.9017405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3318481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2814600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.956679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9118514411
MESH:D009765 Obesity pirinixic acid 1.8220558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.476482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.123988306
MESH:D010051 Ovarian Neoplasms Progesterone 2.5417393432 16525653
MESH:D010146 Pain Acetaminophen 2.4316870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7511578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.557296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3512520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.576228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.2712371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2711399792 11118676 11222880 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1817292933
MESH:D011471 Prostatic Neoplasms Vitamin E 3.1815084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.3916919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.2416882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4119058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9018990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.413692021
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8718045962
MESH:D012871 Skin Diseases Vitamin E 2.4518709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.5419755658 10029692
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 9.548532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.5416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.0416709447
MESH:D013119 Spinal Cord Injuries Progesterone 4.3615862959 16503802
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D020521 Stroke Vitamin E 3.5616517955
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.3517997062
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0012697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.923712494 6582329 7505956 1399818 6587162
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.038074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.0317053015
MESH:D014581 Urticaria Acetaminophen 3.0310982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3614692618
MESH:D014605 Uveitis Cyclosporine 4.081336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6912125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5914671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3515886252
MESH:D018980 Williams Syndrome marker/mechanism 20007321
MESH:D014985 Xerophthalmia Cyclosporine 4.5417120751
Pathway ID Pathway Name
KEGG:03022 Basal transcription factors
Pharmacogenomics Knowledge Base Top
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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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