AutismKB 2.0

Annotation Detail for COPZ1


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Basic Information Top
Gene Symbol:COPZ1 ( COPZ,zeta1-COP )
Gene Full Name: coatomer protein complex, subunit zeta 1
Band: 12q13.13
Quick LinksEntrez ID:22818; OMIM: NA; Uniprot ID:COPZ1_HUMAN; ENSEMBL ID: ENSG00000111481; HGNC ID: 2243
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Membrane Trafficking
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C002029 17alpha-ethynylestr-5(10)-ene-3alpha,17beta-diol 17alpha-ethynylestr-5(10)-ene-3alpha,17beta-diol results in increased expression of COPZ1 mRNAincreases expression 17275934
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of COPZ1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of COPZ1 mRNAaffects expression 21346803
D016572 Cyclosporine Cyclosporine results in increased expression of COPZ1 mRNAincreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of COPZ1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COPZ1 mRNAaffects cotreatment|increases expression 17942748
C029424 hydrazine hydrazine results in increased expression of COPZ1 mRNAincreases expression 15282401
D018038 Sodium Selenite Sodium Selenite results in increased expression of COPZ1 mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COPZ1 mRNAaffects cotreatment|increases expression 17942748
C025643 vinclozolin vinclozolin affects the expression of COPZ1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1311752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001008 Anxiety Disorders vinclozolin 3.8019015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
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 Tetrachlorodibenzodioxin 1.6920435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.0416705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.0416705839
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.036135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.0312371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Cyclosporine 8.2819486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2816919318 17681005 16105132 17110522 15861022 17333356 11677210
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0115894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1812621046 15668235 16354765 15340226 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003456 Cryptorchidism vinclozolin 4.5814966744
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.7718551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.7718551238
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9616285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.4221346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.4221346803 18551238
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.4215131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.4220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2218230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Cyclosporine 8.2719224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.2715345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Cyclosporine 9.3612168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.3620067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.2216973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.6216417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4311294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.368697196 16959395 15340226 18606429 16354765
MESH:D006973 Hypertension Cyclosporine 5.1710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1718670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.1017937319
MESH:D007248 Infertility, Male vinclozolin 7.1016467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512200463 12878042
MESH:D007333 Insulin Resistance Sodium Selenite 3.4014714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.448314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.3916705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.3916705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.3912371664
MESH:D007984 Leydig Cell Tumor vinclozolin 5.0216417039
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.597678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5916984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.146135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1412151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2814737004
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.3218551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.3218551238 7678174
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4719348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.5416049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.5416049721
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.4611896295 11118676 11222880 11399792
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.4619015723 18042343 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.2218220299
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3618760546
MESH:D011472 Prostatitis vinclozolin 5.2218629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.6016919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.3218551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.3218551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.2416049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2416049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.9610091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.9610091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
Pathway ID Pathway Name
REACT:11123 Membrane Trafficking
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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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