AutismKB 2.0

Annotation Detail for CBL


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Basic Information Top
Gene Symbol:CBL ( C-CBL,CBL2,RNF55 )
Gene Full Name: Cas-Br-M (murine) ecotropic retroviral transforming sequence
Band: 11q23.3
Quick LinksEntrez ID:867; OMIM: 165360; Uniprot ID:CBL_HUMAN; ENSEMBL ID: ENSG00000110395; HGNC ID: 1541
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04910Insulin signaling pathway
hsa04012ErbB signaling pathway
hsa04144Endocytosis
hsa04630Jak-STAT signaling pathway
hsa04120Ubiquitin mediated proteolysis
hsa05100Bacterial invasion of epithelial cells
hsa05220Chronic myeloid leukemia
hsa05200Pathways in cancer
hsa04660T cell receptor signaling pathway
Pathway IDPathway Name
Signaling by EGFR
Signaling in Immune system
Pathway IDPathway Name
200185EPHA2 forward signaling
200189FGF signaling pathway
200032Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
200178Paxillin-independent events mediated by a4b1 and a4b7
200003Fc-epsilon receptor I signaling in mast cells
200156Signaling events mediated by Stem cell factor receptor (c-Kit)
200157EPO signaling pathway
200151VEGFR1 specific signals
200013Notch signaling pathway
200012Insulin Pathway
200146Internalization of ErbB1
200121EPHA forward signaling
200127PDGFR-beta signaling pathway
200062TCR signaling in naive CD8+ T cells
200018IL4-mediated signaling events
200110IFN-gamma pathway
200117Paxillin-dependent events mediated by a4b1
200109Integrins in angiogenesis
200022TCR signaling in naive CD4+ T cells
200051Reelin signaling pathway
200057CDC42 signaling events
Pathway IDPathway Name
P00018EGF receptor signaling pathway
Pathway IDPathway Name
500515EGFR downregulation
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1893Esotropia
1954Stroke
2051Leukemia
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015081 2-Naphthylamine 2-Naphthylamine results in increased expression of CBL mRNAincreases expression 18247414
C006632 arsenic trioxide arsenic trioxide results in increased expression of CBL proteinincreases expression 19457607
C006632 arsenic trioxide [bortezomib results in decreased activity of CBL protein] promotes the reaction [arsenic trioxide results in increased activity of AKT1 protein]decreases activity|increases activity|increases reaction 19457607
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of CBL mRNAincreases expression 18247414
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 CBL mRNAdecreases expression 20018196
C400082 bortezomib [bortezomib results in decreased activity of CBL protein] promotes the reaction [arsenic trioxide results in increased activity of AKT1 protein]decreases activity|increases activity|increases reaction 19457607
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of CBL mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CBL mRNAaffects cotreatment|increases expression 17942748
C097613 imatinib [tetraarsenic tetrasulfide co-treated with imatinib] results in increased expression of CBL mRNAaffects cotreatment|increases expression 19208803
D007854 Lead CBL protein affects the reaction [Lead results in decreased expression of PDGFRA protein]affects reaction|decreases expression 17298174
D007854 Lead Lead results in increased phosphorylation of CBL proteinincreases phosphorylation 17298174
C008261 lead acetate CBL protein affects the reaction [lead acetate results in decreased expression of PDGFRA protein]affects reaction|decreases expression 17298174
C008261 lead acetate lead acetate results in increased phosphorylation of CBL proteinincreases phosphorylation 17298174
D008767 Methylmercury Compounds CBL protein affects the reaction [Methylmercury Compounds results in increased ubiquitination of and results in increased degradation of PDGFRA protein]affects reaction|increases degradation|increases ubiquitination 17298174
D008767 Methylmercury Compounds Methylmercury Compounds results in increased phosphorylation of CBL proteinincreases phosphorylation 17298174
D009538 Nicotine Nicotine results in increased expression of CBL mRNAincreases expression 18247414
D010269 Paraquat CBL protein affects the reaction [Paraquat results in decreased expression of PDGFRA protein]affects reaction|decreases expression 17298174
D010269 Paraquat Paraquat results in increased phosphorylation of CBL proteinincreases phosphorylation 17298174
C009166 retinol acetate retinol acetate results in increased expression of CBL mRNAincreases expression 16772331
C534735 tetraarsenic tetrasulfide [tetraarsenic tetrasulfide co-treated with imatinib] results in increased expression of CBL mRNAaffects cotreatment|increases expression 19208803
C534735 tetraarsenic tetrasulfide tetraarsenic tetrasulfide results in increased expression of CBL mRNAincreases expression 19208803
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CBL mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9011752688 15322242 14514962
MESH:D000015 Abnormalities, Multiple imatinib 5.2818322153
MESH:D000022 Abortion, Spontaneous imatinib 6.2818322153
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0017505938
MESH:D000230 Adenocarcinoma arsenic trioxide 7.0719825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.0720127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.0714692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.676695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4316835633
MESH:D000382 Agricultural Workers' Diseases Paraquat 3.8111874814
MESH:D000544 Alzheimer Disease Nicotine 3.2816627626
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9711748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1219183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.5111256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6815885639
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.0616206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.0612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8515340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7815746008
MESH:D001859 Bone Neoplasms imatinib 5.3615867366
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9920146248 17474063
MESH:D001943 Breast Neoplasms imatinib 1.9917614352
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9920435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.3611589617
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8216835633
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 1.9514691202 16217749 15073043 11135700 15553829
MESH:D002289 Carcinoma, Non-Small-Cell Lung bortezomib 3.9616052434
MESH:D002291 Carcinoma, Papillary arsenic trioxide 4.9419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.1412490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0620419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3818850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.7420889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1916835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.8917110522 17333356 15861022 11677210 16919318 16105132 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1116354765 8697196 12621046 15340226 15668235
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0814669216 17141729
MESH:D023903 Coronary Restenosis arsenic trioxide 4.2212609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 7.4410525206
MESH:D019465 Craniofacial Abnormalities imatinib 7.4418322153
MESH:D019465 Craniofacial Abnormalities Lead 7.4419769572
MESH:D019465 Craniofacial Abnormalities lead acetate 7.4419769572
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 7.4410048152 15322242 20055451
MESH:D003456 Cryptorchidism marker/mechanism 20694012
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.1315213294
MESH:D003704 Dementia Lead 10.7916140633
MESH:D003704 Dementia Methylmercury Compounds 10.7916140633
MESH:D002658 Developmental Disabilities marker/mechanism 20694012
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6717107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7811462148
MESH:D020821 Dystonic Disorders Nicotine 5.9817881519
MESH:D004487 Edema imatinib 7.3219703484
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3212711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9616714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.2212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0510568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.2520426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 7.2512903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.2516530937
MESH:D020329 Essential Tremor Lead 5.9814594619 18007985
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0311564622
MESH:D005234 Fatty Liver arsenic trioxide 7.8315073043
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.8315345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5011858732
MESH:D005317 Fetal Growth Retardation Lead 11.8319769572
MESH:D005317 Fetal Growth Retardation lead acetate 11.8319769572
MESH:D018222 Fibromatosis, Aggressive imatinib 5.7017453242
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 2.9920067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.3016904648
MESH:D005911 Gliosis Paraquat 5.2311124998
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6610696789
MESH:D006130 Growth Disorders marker/mechanism 20694012
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.4920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.4910048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.9315340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1116959395 15340226 8697196 18606429 16354765
MESH:D006934 Hypercalcemia bortezomib 5.4818089816
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9118850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8516569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4912013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 11.5317937319
MESH:D007248 Infertility, Male Lead 11.5316780224
MESH:D007248 Infertility, Male Paraquat 11.534850670
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8712878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3616580747
MESH:D007855 Lead Poisoning Lead 5.9816700817
MESH:D007859 Learning Disorders Lead 5.2316384672
MESH:D007938 Leukemia arsenic trioxide 2.8415070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 10.2212560223 17077332
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell bortezomib 10.2218089816
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.3616972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 14.5214633726
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive imatinib 14.5215107311 19208803 15748426 17301526
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive tetraarsenic tetrasulfide 14.5219208803
MESH:D007951 Leukemia, Myeloid arsenic trioxide 10.0919077051
MESH:D007951 Leukemia, Myeloid imatinib 10.0917236224
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 4.4316467208 19850784 20471514 17050201 16968895
MESH:D015470 Leukemia, Myeloid, Acute bortezomib 4.4320471514
MESH:D054429 Leukemia, Myelomonocytic, Juvenile marker/mechanism 20694012
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.2316966277 16330433 19035177 12018890 15213294 17869043 17107899 15622746 11161223 19225113 19075265 12679006 16891316 16331271 16823087 15748426 19642359 17712046 17649720 15336539 16112521 12712474 11468182 17217047 9834237
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.3916882451
MESH:D008106 Liver Cirrhosis, Experimental imatinib 2.8316596278
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.8312878042
MESH:D008113 Liver Neoplasms arsenic trioxide 7.4414682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.4421137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.4416984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 5.8620377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.8612151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.3715213294
MESH:D008175 Lung Neoplasms arsenic trioxide 3.3711798837 19825857
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.3718520028 20064080 20464547 18816296 20135361 20869020 6695378 18569708 17053015
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.3719555203 11884234
MESH:D008223 Lymphoma bortezomib 4.5816098063
MESH:D016393 Lymphoma, B-Cell bortezomib 5.3516675587
MESH:D008527 Medulloblastoma bortezomib 4.2419213072
MESH:D008569 Memory Disorders Lead 10.5116384672 17263510
MESH:D008569 Memory Disorders Methylmercury Compounds 10.5118436314
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2116381670
MESH:D009069 Movement Disorders Methylmercury Compounds 5.3618436314
MESH:D009101 Multiple Myeloma arsenic trioxide 7.8619549372 19417148 11468182 14977855 15949261
MESH:D009101 Multiple Myeloma bortezomib 7.8619112201 19372569 19112817
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.7318349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.1616105982 16882451
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0412213967
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.0016624393
MESH:D009362 Neoplasm Metastasis imatinib 4.0215867366
MESH:D009369 Neoplasms Benzo(a)pyrene 5.4511141357
MESH:D009369 Neoplasms Nicotine 5.4516365874
MESH:D009376 Neoplasms, Hormone-Dependent imatinib 5.5317614352
MESH:D009389 Neovascularization, Pathologic Nicotine 5.0416365874
MESH:D009410 Nerve Degeneration Paraquat 3.7416893418
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2514600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.1310525206
MESH:D010014 Osteolysis imatinib 5.7915867366
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4119769630 12452020 16624393
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5315580305
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7211578682
MESH:D010235 Paraganglioma arsenic trioxide 4.1919927285
MESH:D010300 Parkinson Disease Paraquat 2.8215451049 11124998 16510128 12911755 11181820 11445065 16140633 15824117
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.4716190885
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3112520081
MESH:D011014 Pneumonia Paraquat 4.5012504350
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5918163543
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma imatinib 4.5012476293
MESH:D011297 Prenatal Exposure Delayed Effects Lead 16.8916384672
MESH:D011297 Prenatal Exposure Delayed Effects Methylmercury Compounds 16.8918436314
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 16.8911118676 11896295 11222880 11399792
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.1719131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1717292933
MESH:D011537 Pruritus Ethinyl Estradiol 3.3616919318 15861022
MESH:D011658 Pulmonary Fibrosis Paraquat 2.9216324872 17997886
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 3.9411700416
MESH:D012135 Respiratory Sounds Paraquat 4.1011874814
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8718990726
MESH:D012162 Retinal Degeneration Paraquat 3.8916458197
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.0016646077
MESH:D012640 Seizures Nicotine 3.8117873105
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.5110029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.5116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.0016709447
MESH:D013274 Stomach Neoplasms arsenic trioxide 3.5417007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 3.5420155912 2093021
MESH:D013274 Stomach Neoplasms imatinib 3.5415786421
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6511994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9612697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.7919014326
MESH:D013964 Thyroid Neoplasms imatinib 7.7916940797
OMIM:188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO Nicotine 4.7516720336 16785264 11259349
MESH:D014029 Tobacco Use Disorder Nicotine 5.4918305452 17979512 15735609 18041664
MESH:D016171 Torsades de Pointes arsenic trioxide 4.0115213294
MESH:D014202 Tremor Lead 5.5521145352
MESH:D001749 Urinary Bladder Neoplasms 2-Naphthylamine 8.5511144890
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 8.5520435036 11780464 12845720 12973940
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.5517053015
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3314692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6612125929
MESH:D014657 Vasculitis marker/mechanism 20694012
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3115886252
Pathway ID Pathway Name
KEGG:05100 Bacterial invasion of epithelial cells
KEGG:05220 Chronic myeloid leukemia
KEGG:04144 Endocytosis
KEGG:04012 ErbB signaling pathway
KEGG:04910 Insulin signaling pathway
KEGG:04630 Jak-STAT signaling pathway
KEGG:05200 Pathways in cancer
REACT:9417 Signaling by EGFR
REACT:6900 Signaling in Immune system
KEGG:04660 T cell receptor signaling pathway
KEGG:04120 Ubiquitin mediated proteolysis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26115
    • No data
    No data
    Releated drug ID Related drug Name
    PA10804imatinib
    PA448478l-arginine
    PA450635nitric oxide
    PA152241909PP2
    PA448948chloroquine
    Drug Bank Top

    Simple Query:


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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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