AutismKB 2.0

Annotation Detail for COL4A3BP


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Basic Information Top
Gene Symbol:COL4A3BP ( CERT,CERTL,FLJ20597,GPBP,STARD11 )
Gene Full Name: collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
Band: 5q13.3
Quick LinksEntrez ID:10087; OMIM: 604677; Uniprot ID:C43BP_HUMAN; ENSEMBL ID: ENSG00000113163; HGNC ID: 2205
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
No data
No data
Pathway IDPathway Name
500824Sphingolipid metabolism
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2032Kidney disease
Desease Name
quantitative traits
Desease Name
Quantitative traits
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of COL4A3BP mRNAincreases expression 20406850
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of COL4A3BP mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of COL4A3BP mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of COL4A3BP mRNAaffects expression 17562736
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of COL4A3BP mRNAincreases expression 18687144
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of COL4A3BP mRNAdecreases expression 20064835
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 COL4A3BP mRNAdecreases expression 20018196
19150397
D016572 Cyclosporine Cyclosporine results in decreased expression of COL4A3BP mRNAdecreases expression 20106945
C419708 gefitinib COL4A3BP protein affects the susceptibility to gefitinibaffects response to substance 15496427
C006253 pirinixic acid pirinixic acid results in increased expression of COL4A3BP mRNAincreases expression 18301758
D012643 Selenium [Selenium co-treated with Vitamin E] results in increased expression of COL4A3BP mRNAaffects cotreatment|increases expression 19244175
D012643 Selenium Selenium results in decreased expression of COL4A3BP mRNAdecreases expression 19244175
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in increased expression of COL4A3BP mRNAaffects cotreatment|increases expression 19244175
D014810 Vitamin E Vitamin E results in decreased expression of COL4A3BP mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0120127859 20464547
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 6.853712494
MESH:D000236 Adenoma Benzo(a)pyrene 6.856695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.6716434500
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2519183758
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.241440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.2919483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0217474063 20146248
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1116050911
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.6216705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.623581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.623084413
MESH:D002289 Carcinoma, Non-Small-Cell Lung marker/mechanism 15496427
MESH:D002289 Carcinoma, Non-Small-Cell Lung gefitinib 3.9919233551 15496427 16230376 18347146 17290066 20005069
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.737296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0820419170
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 16.806135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 16.807505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 16.8020889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 16.8012371664
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 13.9919486331 9022650
MESH:D002779 Cholestasis Cyclosporine 13.9919486331
MESH:D002779 Cholestasis pirinixic acid 13.9919176532
MESH:D003092 Colitis Selenium 3.9517936198
MESH:D015179 Colorectal Neoplasms gefitinib 3.2417594712
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1918551238
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.9711906362 8156756 11298694 12868966 8970840 18759878 2524372 14531868
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.643621924 2952479
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.2921346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.2911289319 7440962 6482804 1440618 18648102 18692083 6679447 18289764 9653073 9328219 16192314 9022650 8291058
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.2912392966 19085960 16393943 16177239 17562736 12958197 10663392 17522070 19370779 16227642 16485898 19739265 11743745 15968718 14550746 11834606 10774834 19164858 12540782 2444490 11739529 11287661 11529661 15619225 19420014 16109766 12153990 10915739 18713872 11421492 11461765 19923254 14725611 16081117 19416960 14986274 12705907 17906064 16781746 12594235 18071297
MESH:D056486 Drug-Induced Liver Injury Selenium 9.2915131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:C538011 Eales disease Vitamin E 4.929068938
MESH:D004487 Edema pirinixic acid 2.6212083418
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 7.373581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3720426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.3716530937
MESH:D005234 Fatty Liver Cyclosporine 8.0319224547
MESH:D005234 Fatty Liver pirinixic acid 8.0319236843 20131406
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.246705139
MESH:D005355 Fibrosis Cyclosporine 3.3212639820 12168785
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.197505956
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9220471113
MESH:D006330 Heart Defects, Congenital Vitamin E 6.9216080930
MESH:D006333 Heart Failure pirinixic acid 7.2220558911
MESH:D006333 Heart Failure Selenium 7.2217162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.676705139
MESH:D006529 Hepatomegaly pirinixic acid 3.1716221962 19772884 18467677 19176532
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7416863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.1914716179
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.1115034207
MESH:D006973 Hypertension Cyclosporine 2.1410903974
MESH:D006976 Hypertension, Pulmonary gefitinib 4.7918424623
MESH:D017380 Hypertrophy, Right Ventricular gefitinib 6.4318424623
MESH:D007251 Influenza, Human Selenium 11.7016624496
MESH:D007251 Influenza, Human Vitamin E 11.7016624496
MESH:D007333 Insulin Resistance pirinixic acid 2.7216306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.248074119 9022650
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Acetaminophen 10.4512587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 10.458314463 10903974 18776723
MESH:D007674 Kidney Diseases Vitamin E 10.4512488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 18.8216705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 18.826582329
MESH:D007680 Kidney Neoplasms Cyclosporine 18.8212371664
MESH:D007680 Kidney Neoplasms gefitinib 18.8218625569
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.2815034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4115474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4116169303
MESH:D008107 Liver Diseases Acetaminophen 1.6619784758 19460945 12969438 19014921 16611625 16610002 11587558 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3717185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.657678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.6520195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 7.6515890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.176135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.173712494 598648 6587162 1399818
MESH:D008171 Lung Diseases Vitamin E 3.2716863852
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.2017365036
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4620869020 18520028 18569708 17053015 6695378 20464547 20135361 18816296 20064080
MESH:D008175 Lung Neoplasms Vitamin E 2.4611062179
MESH:D008325 Mammary Neoplasms, Experimental gefitinib 6.8918375820
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.8915318939
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008654 Mesothelioma Asbestos, Crocidolite 6.5016166281 16966607 18303189
MESH:D008654 Mesothelioma Selenium 6.5015107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3016381670
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0516411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.0518551238 7678174
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.523581430
MESH:D009369 Neoplasms Benzo(a)pyrene 5.0311141357
MESH:D009369 Neoplasms pirinixic acid 5.0317405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4119348381 18481113
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.006679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.3316049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.334026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.243988306
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.667296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.696228378
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.0710923243
MESH:D011230 Precancerous Conditions Cyclosporine 3.3512371664
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.7117292933
MESH:D011471 Prostatic Neoplasms gefitinib 2.7116685379 15651060 17914592
MESH:D011471 Prostatic Neoplasms Vitamin E 2.7115084515
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 6.4715814490 17365031 17322281 17975199
MESH:D011658 Pulmonary Fibrosis gefitinib 6.4718424623
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.483692021
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6218551238
MESH:D012871 Skin Diseases Vitamin E 2.4718709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4310029692 19755658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D020521 Stroke Vitamin E 3.6316517955
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 8.023712494 1399818 6582329 6587162 7505956
MESH:D013964 Thyroid Neoplasms gefitinib 8.0216940797
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.5516049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.558074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.5517053015
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.5110091137
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
Pathway ID Pathway Name
REACT:22258 Metabolism of lipids and lipoproteins
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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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