AutismKB 2.0

Annotation Detail for TP53BP1


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Basic Information Top
Gene Symbol:TP53BP1 ( 53BP1,FLJ41424,MGC138366,p202 )
Gene Full Name: tumor protein p53 binding protein 1
Band: 15q15.3
Quick LinksEntrez ID:7158; OMIM: 605230; Uniprot ID:TP53B_HUMAN; ENSEMBL ID: ENSG00000067369; HGNC ID: 11999
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
DNA Repair
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No data
Pathway IDPathway Name
500044Recruitment of repair and signaling proteins to double-strand breaks
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D017638 Asbestos, Crocidolite Asbestos, Crocidolite affects the expression of TP53BP1 mRNAaffects expression 17331233
D016572 Cyclosporine Cyclosporine results in increased expression of TP53BP1 mRNAincreases expression 20106945
C056507 gemcitabine gemcitabine results in increased expression of TP53BP1 mRNAincreases expression 17039268
D017313 Fenretinide Fenretinide results in increased expression of TP53BP1 mRNAincreases expression 16570282
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of TP53BP1 mRNAincreases expression 16714409
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3814514962 15322242 11752688
MESH:D000230 Adenocarcinoma Fenretinide 3.1710697514
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001932 Brain Neoplasms Fenretinide 4.7016187019
MESH:D001943 Breast Neoplasms Fenretinide 2.1016601279
MESH:D001943 Breast Neoplasms gemcitabine 2.1018382427 17039268
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.1020435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular Fenretinide 2.8017159502 16270382
MESH:D002294 Carcinoma, Squamous Cell Fenretinide 3.2516274795
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7612371664
MESH:D018290 Cervical Intraepithelial Neoplasia Fenretinide 6.0216154183
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis Cyclosporine 3.1719486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2215668235 16354765 12621046 15340226 8697196
MESH:D015179 Colorectal Neoplasms Fenretinide 2.6917273769
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 10048152 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5115322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.379294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Cyclosporine 3.2319224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Cyclosporine 10.1412639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.1420067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D005909 Glioblastoma Fenretinide 4.1016187019
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4910048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3712621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6616354765 18606429 8697196 15340226 16959395
MESH:D006973 Hypertension Cyclosporine 5.3110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3118850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 2.528314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0412371664
MESH:D007972 Leukoplakia, Oral Fenretinide 6.6616707609
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.5017365036
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Fenretinide 3.7810697514
MESH:D008545 Melanoma Fenretinide 2.8616270382
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.3016966607 18303189 16166281
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009062 Mouth Neoplasms Fenretinide 4.5916274795
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009369 Neoplasms Fenretinide 3.4415958647 17353921
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009472 Neuronal Ceroid-Lipofuscinoses Fenretinide 6.2216303764
MESH:D010051 Ovarian Neoplasms Fenretinide 3.3116133793
MESH:D010190 Pancreatic Neoplasms Fenretinide 6.3315580305
MESH:D010190 Pancreatic Neoplasms gemcitabine 6.3316929163 17440100 11504793 18992248 18383843
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.3810923243
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311118676 11222880 11896295 11399792
MESH:D011471 Prostatic Neoplasms Fenretinide 4.0417024972
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1417322281 17365031 15814490 17975199
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012162 Retinal Degeneration Fenretinide 4.6616303925
MESH:D012878 Skin Neoplasms Fenretinide 6.3616467112
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.3616192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D001749 Urinary Bladder Neoplasms Fenretinide 3.4116720286
MESH:D002583 Uterine Cervical Neoplasms Fenretinide 4.9116154183
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
REACT:216 DNA Repair
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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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