AutismKB 2.0

Annotation Detail for CEP290


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Basic Information Top
Gene Symbol:CEP290 ( 3H11Ag,BBS14,CT87,FLJ13615,FLJ21979,JBTS5,JBTS6,KIAA0373,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16 )
Gene Full Name: centrosomal protein 290kDa
Band: 12q21.32
Quick LinksEntrez ID:80184; OMIM: 610142; Uniprot ID:CE290_HUMAN; ENSEMBL ID: ENSG00000198707; HGNC ID: 29021
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Cell Cycle, Mitotic
No data
No data
Pathway IDPathway Name
500383Loss of proteins required for interphase microtubule organization from the centrosome
500384Loss of Nlp from mitotic centrosomes
Related Diseases/Disorders Top
Desease IDDesease Name
Other genetic disorders
H00418Bardet-Biedl syndrome
Genetic disorders
Desease IDDesease Name
2153Bardet-Biedl syndrome
2234Amaurosis congenita of leber I
Desease Name
Joubert syndrome nephronophthisis
NEUROLOGICAL
No data
Desease Name
Joubert syndrome 5
Meckel syndrome type 4
Senior-Loken syndrome 6
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of CEP290 proteinaffects expression 20106945
D003010 Clorgyline Clorgyline results in increased expression of CEP290 mRNAincreases expression 19691856
D016572 Cyclosporine Cyclosporine results in increased expression of CEP290 mRNAincreases expression 20106945
C051890 irinotecan irinotecan analog results in decreased expression of CEP290 mRNAdecreases expression 18927307
D008770 Methylnitrosourea Methylnitrosourea results in decreased expression of CEP290 mRNAdecreases expression 17412507
D012643 Selenium Selenium results in decreased expression of CEP290 mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CEP290 mRNAincreases expression 19465110
D014810 Vitamin E Vitamin E results in decreased expression of CEP290 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 14514962 11752688
MESH:D000230 Adenocarcinoma Methylnitrosourea 3.1715113128 15688392
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D020788 Bardet-Biedl Syndrome marker/mechanism 18327255
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Methylnitrosourea 2.2916253758 14633655 11306469
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.2920435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.2416050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 1.9812619106 12907637 21507988
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918670907 18850075 16120746
MESH:D002386 Cataract Methylnitrosourea 4.1212484553
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.4912371664
MESH:D002471 Cell Transformation, Neoplastic Methylnitrosourea 7.492727394 7505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Cyclosporine 3.0919486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.198697196 16354765 15668235 12621046 15340226
MESH:D003092 Colitis Selenium 4.0917936198
MESH:D003110 Colonic Neoplasms irinotecan 2.6217725105 17287894
MESH:D015179 Colorectal Neoplasms irinotecan 2.3618509181 18259882 16303861 17159606 17454858 16391804 15273666
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5415322242 20055451 10048152
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5419769572
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Selenium 3.9715131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:C538011 Eales disease Vitamin E 5.089068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Cyclosporine 3.1019224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005354 Fibrosarcoma Methylnitrosourea 5.5711555667
MESH:D005355 Fibrosis Cyclosporine 9.5212168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.5220067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.568708960
MESH:D005910 Glioma Methylnitrosourea 3.649825942
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9510048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 6.9516080930
MESH:D006333 Heart Failure Selenium 3.2117162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2012621046 15340226 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7716863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.3514716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4215340226 16959395 8697196 18606429 16354765
MESH:D006973 Hypertension Cyclosporine 5.2110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2118850075 18670907
MESH:D007248 Infertility, Male Methylnitrosourea 3.957193160
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612200463 12878042
MESH:D007251 Influenza, Human Selenium 12.2516624496
MESH:D007251 Influenza, Human Vitamin E 12.2516624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:C537688 Joubert syndrome 5 marker/mechanism
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8215604871
MESH:D007674 Kidney Diseases Cyclosporine 6.448314463 10903974 18776723
MESH:D007674 Kidney Diseases Vitamin E 6.4412488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.1316518626
MESH:D007680 Kidney Neoplasms Cyclosporine 2.9312371664
MESH:D057130 Leber Congenital Amaurosis marker/mechanism
MESH:D017880 Limb Deformities, Congenital Methylnitrosourea 4.3715526292
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4012878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4016169303
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.7015890375 2125692 18177683 9163691
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7016984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.288603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2812151625
MESH:D038061 Lower Extremity Deformities, Congenital Methylnitrosourea 5.7716080182
MESH:D008171 Lung Diseases Vitamin E 3.3316863852
MESH:D008175 Lung Neoplasms Aflatoxin B1 5.0814755239
MESH:D008175 Lung Neoplasms Methylnitrosourea 5.0818062963
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 5.0819555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 5.0811062179
MESH:D008223 Lymphoma Methylnitrosourea 4.1816257854 11418001
MESH:D016393 Lymphoma, B-Cell Methylnitrosourea 5.0314633661
MESH:D008325 Mammary Neoplasms, Experimental Methylnitrosourea 6.8816944150 11751437 14999141 11807958 19196723 10767621 12931682 15113128 15688392 15313902 16051031 16827153 14633655 10838139 17131329 17020996 16619500
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.8815318939
OMIM:611134 MECKEL SYNDROME, TYPE 4 marker/mechanism
MESH:D008654 Mesothelioma Selenium 2.8715107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1616801185
MESH:D052016 Mucositis irinotecan 5.3517159606
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009362 Neoplasm Metastasis irinotecan 3.2518259882
MESH:D009369 Neoplasms Methylnitrosourea 3.4015533788
MESH:D009374 Neoplasms, Experimental Methylnitrosourea 4.7812696579
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5019348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009442 Neurilemmoma Methylnitrosourea 5.8211555667
MESH:D009447 Neuroblastoma irinotecan 3.598761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.078761367
MESH:D010190 Pancreatic Neoplasms Methylnitrosourea 3.4316965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D010954 Plasmacytoma Selenium 5.2715087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4412371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311118676 11222880 11399792 11896295
MESH:D011471 Prostatic Neoplasms Clorgyline 2.8019691856
MESH:D011471 Prostatic Neoplasms Methylnitrosourea 2.8015682402 12376480
MESH:D011471 Prostatic Neoplasms Vitamin E 2.8015084515
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012162 Retinal Degeneration Methylnitrosourea 4.5918172121 18155124
MESH:D012175 Retinoblastoma Methylnitrosourea 5.8211555667
OMIM:610189 SENIOR-LOKEN SYNDROME 6 marker/mechanism
MESH:D012871 Skin Diseases Vitamin E 2.4918709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013274 Stomach Neoplasms irinotecan 3.0215723263
MESH:D013274 Stomach Neoplasms Methylnitrosourea 3.0218593901 16257854 15930296
MESH:D020521 Stroke Vitamin E 3.7116517955
MESH:D013953 Thymus Neoplasms Methylnitrosourea 5.5711418001
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms Methylnitrosourea 4.103078959 7505956
MESH:D014605 Uveitis Cyclosporine 4.361336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8217120751
Pathway ID Pathway Name
REACT:152 Cell Cycle, Mitotic
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA143485433
    • Releated gene ID Related gene Name
    PA162381194CC2D2A
    Releated disease ID Related disease Name
    PA446429Polycystic Kidney, Autosomal Recessive
    PA152407979Familial aplasia of the vermis
    PA143414733Meckel syndrome (MKS)
    PA152407980Joubert Syndrome-Related Disorders
    PA152407981JSRD-SLS
    PA152407984Leber's amaurosis
    PA152407983Renal dysplasia and retinal aplasia
    No data
    Drug Bank Top

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      (e.g. CHD8)

    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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