AutismKB 2.0

Annotation Detail for SETBP1


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Basic Information Top
Gene Symbol:SETBP1 ( DKFZp666J1210,KIAA0437,SEB )
Gene Full Name: SET binding protein 1
Band: 18q12.3
Quick LinksEntrez ID:26040; OMIM: 611060; Uniprot ID:SETBP_HUMAN; ENSEMBL ID: ENSG00000152217; HGNC ID: 15573
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1959Granulomatous disease
No data
No data
Desease Name
Schinzel-Giedion midface retraction syndrome
Leukemia, acute T-cell lymphoblastic
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of SETBP1 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 SETBP1 mRNAdecreases expression 19150397
C006780 bisphenol A bisphenol A affects the expression of SETBP1 mRNAaffects expression 20170705
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SETBP1 mRNAaffects expression 20170705
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SETBP1 mRNAaffects expression 20170705
D012643 Selenium Selenium results in decreased expression of SETBP1 mRNAdecreases expression 19244175
D013629 Tamoxifen Tamoxifen results in decreased expression of SETBP1 mRNAdecreases expression 17555576
D014810 Vitamin E Vitamin E results in decreased expression of SETBP1 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9914745880
MESH:D000015 Abnormalities, Multiple marker/mechanism 20436468
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3720464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3714692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.806695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4319183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001862 Bone Resorption bisphenol A 4.1411985600
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9020146248 17474063
MESH:D001943 Breast Neoplasms bisphenol A 1.9017123778
MESH:D001943 Breast Neoplasms Tamoxifen 1.9019115204 18984771 20135344 16818667 19288272 17049068 19221464 19103187 19189212 19289846 18815881 19487384 19200415 19059307 21138602 19244106 19011961 18821012 19189210 16273361 20390343 19155303 11161223 18351453 19084267 19066611 16202921 17242785 20544844 18425577 20859285 20065188 18629630 18997820 19410462 17440819 18855134 20005174 17261762 15668708 21152245 17893378 15565566 19142967 16873071
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.2916050911
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8719066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8516924424
MESH:D002278 Carcinoma in Situ bisphenol A 5.3817123778
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1120419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8817572228
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9020889678
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0716105132 15861022 11677210 17110522 16919318 17333356 17681005
MESH:D003092 Colitis Selenium 4.1417936198
MESH:D019465 Craniofacial Abnormalities marker/mechanism 20436468
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7219031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7219279558
MESH:D056486 Drug-Induced Liver Injury Selenium 2.2315131321
MESH:C538011 Eales disease Vitamin E 5.159068938
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.0612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.0619031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2120544844 16202921 17893378 19155303
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5420426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5416530937
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.6415345470
MESH:D005234 Fatty Liver Tamoxifen 8.6419224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3916709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5819069698
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.1220471113
MESH:D006330 Heart Defects, Congenital Vitamin E 7.1216080930
MESH:D006333 Heart Failure Selenium 3.2317162251
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7816863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.4114716179
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation Tamoxifen 2.4819457130
MESH:D007251 Influenza, Human Selenium 12.4816624496
MESH:D007251 Influenza, Human Vitamin E 12.4816624496
MESH:D007333 Insulin Resistance bisphenol A 3.4616393666
MESH:D007674 Kidney Diseases Vitamin E 2.9512488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.1716518626
MESH:D007680 Kidney Neoplasms Tamoxifen 3.2718625569
MESH:D008064 Lipidoses Tamoxifen 3.3515342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.5918564211
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.5916169303
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.8120195826 21137059
MESH:D008113 Liver Neoplasms Tamoxifen 4.8116684651
MESH:D008171 Lung Diseases Vitamin E 3.3516863852
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.5718520028 18569708 20464547 18816296 20135361 20869020 6695378 20064080 17053015
MESH:D008175 Lung Neoplasms Tamoxifen 3.5718625569
MESH:D008175 Lung Neoplasms Vitamin E 3.5711062179
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1519428831
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.6015318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.6019196722 11731420 19196723 14580682 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.9919453300
MESH:D008545 Melanoma Tamoxifen 1.9112393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5815990972
MESH:D008607 Mental Retardation marker/mechanism 20436468
MESH:D008654 Mesothelioma Selenium 2.8815107826
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4016381670
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6419393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5919410462
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2811141357
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.4419200415 19189210 19196722
MESH:D009421 Nervous System Malformations bisphenol A 4.3011399458 16427766
MESH:D010049 Ovarian Diseases bisphenol A 5.3811985600
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010954 Plasmacytoma Selenium 5.3315087411
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.3510548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.4920887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0417292933
MESH:D011471 Prostatic Neoplasms bisphenol A 2.0416740699
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.0415067354
MESH:D011471 Prostatic Neoplasms Vitamin E 2.0415084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.7116919318 15861022
MESH:D011629 Puberty, Precocious bisphenol A 5.1810548101
MESH:D012871 Skin Diseases Vitamin E 2.5018709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4819755658 10029692
MESH:D013088 Spermatocele Ethinyl Estradiol 13.0916709447
MESH:D013088 Spermatocele Tamoxifen 13.0916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.4319457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D020521 Stroke Vitamin E 3.7416517955
MESH:D019966 Substance-Related Disorders bisphenol A 4.3816684133 16045194
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.3017053015
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.3016712894 17572228 8653321
MESH:D014591 Uterine Diseases bisphenol A 5.4514652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8215869587 14671159
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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