AutismKB 2.0

Annotation Detail for CASK


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Basic Information Top
Gene Symbol:CASK ( CAGH39,CAMGUK,CMG,FGS4,FLJ22219,FLJ31914,LIN2,MICPCH,TNRC8 )
Gene Full Name: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
Band: Xp11.4
Quick LinksEntrez ID:8573; OMIM: 300172; Uniprot ID:CSKP_HUMAN; ENSEMBL ID: ENSG00000147044; HGNC ID: 1497
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04530Tight junction
Pathway IDPathway Name
Interactions of the immunoglobulin superfamily (IgSF) member proteins
Pathway IDPathway Name
200134Syndecan-1-mediated signaling events
200170Syndecan-3-mediated signaling events
200164Syndecan-2-mediated signaling events
Pathway IDPathway Name
P00049Parkinson disease
P00031Inflammation mediated by chemokine and cytokine signaling pathway
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
FG syndrome 4
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of CASK mRNAaffects expression 21346803
C027576 4-hydroxy-2-nonenal 4-hydroxy-2-nonenal results in decreased expression of CASK mRNAdecreases expression 12419474
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of CASK proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CASK mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in increased expression of CASK mRNAincreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of CASK mRNAdecreases expression 20064835
20106945
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of CASK mRNAdecreases expression 12419474
D016572 Cyclosporine Cyclosporine results in increased expression of CASK mRNAincreases expression 20106945
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of CASK mRNAincreases expression 20360939
D002117 Calcitriol Calcitriol results in increased expression of CASK mRNAincreases expression 16002434
D006861 Hydrogen Peroxide Hydrogen Peroxide results in decreased expression of CASK mRNAdecreases expression 12419474
D008748 Methylcholanthrene Methylcholanthrene results in decreased expression of CASK mRNAdecreases expression 20713471
D009151 Mustard Gas Mustard Gas affects the expression of CASK mRNAaffects expression 15651846
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D000230 Adenocarcinoma arsenic trioxide 4.4119825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4120127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 11.506695378
MESH:D000236 Adenoma Diethylnitrosamine 11.506695378 10737359
MESH:D000236 Adenoma Methylcholanthrene 11.506695378 10545420
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.0216434500 17620307 19052882 18056438 19061943 17162532
MESH:D000690 Amyotrophic Lateral Sclerosis 4-hydroxy-2-nonenal 4.1510965797
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D001249 Asthma Mustard Gas 2.7310378619
MESH:D050197 Atherosclerosis Methylcholanthrene 3.5011922910
MESH:D001768 Blister Mustard Gas 5.2819167455
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 3.7516206674
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0120146248 17474063
MESH:D001943 Breast Neoplasms Calcitriol 2.0111237771
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.0117474063
MESH:D001943 Breast Neoplasms Methylcholanthrene 2.0117474063
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.2815286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.1117687719 10378619
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.4211589617
MESH:D002277 Carcinoma Methylcholanthrene 4.0310545420
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.6916705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.6912907637 21507988 12619106
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 6.6915553829 16217749 11135700 15073043 14691202
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 6.6918665156 17978847 10737359 19171122 19107877 17428255 19383236 18210153 17162532 11831363 20007298 18393292 20101231 20524982 18056438 17761372 16830150 20935162 18691550 19519916 16681979 3084413 18494052 18785209 20432363 17138121 16779866 20084675 19335982 19052882 3581430 16807293 21159647 19539802 18971187 19394651 19822196 16935385 19418558 16288022 20512989 16328049 19208518 16502159 16540662 18978308 16698587 20514400 19701751 10672840 17173139 19919837 18506893 18788625 20214788 16878318 17055752 16569478 20727157
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.0119014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.1912490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7620419170
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 4.7611237771
MESH:D002318 Cardiovascular Diseases Hydrogen Peroxide 3.5716936243
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 16.516135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 16.5112371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 16.5117174075 7505956 2727394 21159647
MESH:D002471 Cell Transformation, Neoplastic Methylcholanthrene 16.5116192471
MESH:D002526 Cerebellar Diseases marker/mechanism 18690219
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.7619052882
MESH:D002779 Cholestasis Cyclosporine 2.9719486331
MESH:D002972 Cleft Palate marker/mechanism 9787075
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.2812609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8810525206
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1218551238
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.1815213294
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2120387270
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.9618551238 21346803
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 3.9619107877
MESH:D004487 Edema Mustard Gas 3.399260866 11428647 11402378 11428631
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.0315138306
MESH:D004890 Erythema Mustard Gas 5.289357497
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.2516302075
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.5012903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5016530937
MESH:D005234 Fatty Liver arsenic trioxide 13.6015073043
MESH:D005234 Fatty Liver Cyclosporine 13.6019224547
MESH:D005234 Fatty Liver Diethylnitrosamine 13.6020387270 21071580
OMIM:300422 FG SYNDROME 4 marker/mechanism
MESH:D005354 Fibrosarcoma Methylcholanthrene 5.0614633661 10962813
MESH:D005355 Fibrosis Cyclosporine 3.2412639820 12168785
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.3616904648
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.348708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.6920471113
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5415720958
MESH:D006973 Hypertension Cyclosporine 2.1210903974
MESH:D007249 Inflammation Diethylnitrosamine 5.3718785209
MESH:D007249 Inflammation Mustard Gas 5.3711428620 11402378 9260866 9357497 8975870 11428631 17524151 16001271 11428647
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.388314463 10903974 18776723
MESH:D007676 Kidney Failure, Chronic Hydrogen Peroxide 4.3516518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.5016705839
MESH:D007680 Kidney Neoplasms Cyclosporine 7.5012371664
MESH:D007938 Leukemia arsenic trioxide 2.8715070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.8812560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.4216972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.4914633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.8419077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1516467208 20471514 16968895 19850784 17050201
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.2616112521 11161223 19075265 16966277 9834237 17217047 17107899 12018890 19035177 17869043 11468182 17649720 19642359 16891316 17712046 19225113 15748426 12679006 12712474 16823087 15336539 15622746 16331271 15213294 16330433
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.4516882451
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8719638242 18665156 18407596 18522880 20032147
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1217034775
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 14.567678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 14.5615890375 18177683 9163691 2125692
MESH:D008113 Liver Neoplasms arsenic trioxide 14.5614682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 14.5621137059 20195826
MESH:D008113 Liver Neoplasms Diethylnitrosamine 14.5619850985 20101389 19255062 19499222 18978307 12112319 20118626 15175105 16942905 19294768 20501860 19426721 15885732 19638242 21047994 21071580 19073162 19642983 19427195 20137499 19090486 21278145 2422723 21167192 19833225 18648771 19551842 20583210 20434301 2862719 19812893 19996281 18754104 19254457 10737359 12771043 19256749 18977376 20452335 20492335 20405173 18644402 9163691 19690152
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 19.212876786 2876784 6135515
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 19.218603461
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 19.2120377131
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 19.2119126423 19009564 21159647 9362446 17174075 16267830 3124819 18282651 19004024 19519916 18253720 18308698 18164116 19539802 18093689 16842330 2563599 18775883 17854601 18079962 17942915 18544905
MESH:D008114 Liver Neoplasms, Experimental Methylcholanthrene 19.21598648 1399818
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4115213294
MESH:D008171 Lung Diseases Mustard Gas 3.5018161513 18702808
MESH:D008175 Lung Neoplasms Aflatoxin B1 8.6914755239
MESH:D008175 Lung Neoplasms arsenic trioxide 8.6919825857 11798837
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 8.6920464547 20869020 18816296 20064080 18569708 6695378 18520028 17053015 20135361
MESH:D008175 Lung Neoplasms Diethylnitrosamine 8.6920970405 20512841 6695378 21163286
MESH:D008175 Lung Neoplasms Methylcholanthrene 8.6920970405 21163286 1399818 10545420 16271038 17909032 9230183 11893704 7750092 16337739 20512841 6695378 15390079
MESH:D008175 Lung Neoplasms Mustard Gas 8.693148597 8781369
OMIM:300749 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA marker/mechanism
MESH:D038901 Mental Retardation, X-Linked marker/mechanism 19377476 18690219
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9216801185
MESH:D008831 Microcephaly marker/mechanism 18690219
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2516381670
MESH:D009101 Multiple Myeloma arsenic trioxide 3.1615949261 19549372 14977855 11468182 19417148
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.8118349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.1816105982 16882451
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.987678174 18551238
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.0516624393
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.593581430 9029167
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2011141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3619348381 18481113
MESH:D009436 Neural Tube Defects arsenic trioxide 3.1710525206
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.4120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.2520387270
MESH:D009503 Neutropenia Mustard Gas 4.0616761898 7688884
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5116049721
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4316624393 12452020 19769630
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 5.3615580305
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.3616540662
MESH:D010212 Papilloma Hydrogen Peroxide 4.1912065085
MESH:D010235 Paraganglioma arsenic trioxide 4.2519927285
MESH:D010787 Photosensitivity Disorders 4-hydroxy-2-nonenal 5.6411550810
MESH:D011041 Poisoning Mustard Gas 3.8815727166
MESH:D011230 Precancerous Conditions Cyclosporine 9.1912371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.192563599
MESH:D011470 Prostatic Hyperplasia Calcitriol 4.9015572423
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.5719131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5717292933
MESH:D011471 Prostatic Neoplasms Calcitriol 2.5716289102 18247401 12479363 15754350 16644109
MESH:D011537 Pruritus Mustard Gas 4.2118058305
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9517894541 17620002 17266442 17720292 10334151
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.0516646077
MESH:D012640 Seizures 2,6-dinitrotoluene 2.5918551238
MESH:D012871 Skin Diseases Mustard Gas 2.7312880345 15451306 16961503
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.7510029692 19755658
MESH:D012878 Skin Neoplasms Hydrogen Peroxide 9.7512065085
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 9.758532709
MESH:D013274 Stomach Neoplasms arsenic trioxide 3.3717007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 3.3720155912 2093021
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 3.3718456281
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.4019014326
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.407505956
MESH:D016171 Torsades de Pointes arsenic trioxide 4.0815213294
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.4616049721
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 8.4612845720 12973940 20435036 11780464
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.4617053015
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4310091137
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
Pathway ID Pathway Name
REACT:23853 Interactions of the immunoglobulin superfamily (IgSF) member proteins
KEGG:04530 Tight junction
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26081
    • No data
    Releated disease ID Related disease Name
    PA444944Microcephaly
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB01942 - Formic Acid Antibacterial Agents
    No data
    No data
    No data

    Simple Query:


      (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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