AutismKB 2.0

Annotation Detail for CCDC53


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Basic Information Top
Gene Symbol:CCDC53 ( CGI-116 )
Gene Full Name: coiled-coil domain containing 53
Band: 12q23.2
Quick LinksEntrez ID:51019; OMIM: NA; Uniprot ID:CCD53_HUMAN; ENSEMBL ID: ENSG00000120860; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of CCDC53 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of CCDC53 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of CCDC53 mRNAincreases expression 17879257
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of CCDC53 mRNAaffects expression 17555576
D008942 Mitoxantrone CCDC53 protein affects the susceptibility to Mitoxantroneaffects response to substance 16217747
D012643 Selenium Selenium results in decreased expression of CCDC53 mRNAdecreases expression 19244175
D013629 Tamoxifen Tamoxifen affects the expression of CCDC53 mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9914745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3720127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3714692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.806695378
MESH:D000799 Angioedema Acetaminophen 4.2910982225
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:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0520146248 17474063
MESH:D001943 Breast Neoplasms Tamoxifen 2.0520065188 19011961 18425577 19189210 16818667 17049068 18821012 19142967 20135344 18815881 18629630 21138602 11161223 20544844 18984771 19221464 20005174 15565566 19066611 19084267 18997820 19410462 17242785 19115204 19155303 17440819 19244106 16202921 20859285 19487384 16273361 15668708 19059307 19189212 19288272 18351453 19289846 18855134 19200415 17893378 16873071 19103187 17261762 21152245 20390343
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8719066611
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7216705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.723084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.7216924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1120419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8817572228
MESH:D002386 Cataract Acetaminophen 2.7310977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.956135515
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0716105132 15861022 17681005 17110522 16919318 11677210 17333356
MESH:D003092 Colitis Selenium 4.1417936198
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.3818551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7219031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7219279558
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.6021346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.6012153990 14725611 19923254 11461765 12540782 18071297 14550746 17906064 17562736 10915739 2444490 11287661 19370779 15968718 10774834 12705907 16485898 16109766 19164858 16781746 10663392 11743745 12594235 11739529 16393943 19416960 11529661 18713872 15619225 16177239 12958197 19085960 11834606 19739265 17522070 16081117 12392966 14986274 19420014 11421492 16227642
MESH:D056486 Drug-Induced Liver Injury Selenium 6.6015131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
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 Benzo(a)pyrene 2.0616530937
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:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7820471113
MESH:D006331 Heart Diseases Mitoxantrone 4.3316019553
MESH:D006333 Heart Failure Selenium 3.2317162251
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
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 4.6416624496
MESH:D007674 Kidney Diseases Acetaminophen 2.3412587719 15629191
MESH:D007676 Kidney Failure, Chronic Selenium 4.1716518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.1716705839
MESH:D007680 Kidney Neoplasms Tamoxifen 8.1718625569
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Mitoxantrone 3.8818172266
MESH:D008064 Lipidoses Tamoxifen 3.3515342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008107 Liver Diseases Acetaminophen 1.6816610002 12969438 19460945 12587719 19784758 16611625 11587558 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5016871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.957678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.9520195826 21137059
MESH:D008113 Liver Neoplasms Tamoxifen 7.9516684651
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.702876786 6135515 2876784
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4320869020 18816296 20064080 6695378 17053015 20135361 18520028 20464547 18569708
MESH:D008175 Lung Neoplasms Tamoxifen 2.4318625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1519428831
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.6015318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.6019196722 16827153 14580682 19196723 11731420
MESH:D020149 Manganese Poisoning Tamoxifen 4.9919453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5815990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D008654 Mesothelioma Selenium 2.8815107826
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4016381670
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.2618551238 7678174
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6419393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5919410462
MESH:D009369 Neoplasms Benzo(a)pyrene 5.7711141357
MESH:D009369 Neoplasms Mitoxantrone 5.7716640825
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.4419196722 19200415 19189210
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7016049721
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010954 Plasmacytoma Selenium 5.3315087411
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0717292933
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0715067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7115861022 16919318
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7118551238
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 1.5620155912 2093021
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.8216049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.8217053015
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.8217572228 16712894 8653321
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7110091137
MESH:D014581 Urticaria Acetaminophen 3.2810982225
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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