AutismKB 2.0

Annotation Detail for CDKL5


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Basic Information Top
Gene Symbol:CDKL5 ( ISSX,STK9 )
Gene Full Name: cyclin-dependent kinase-like 5
Band: Xp22.13
Quick LinksEntrez ID:6792; OMIM: 300203; Uniprot ID:CDKL5_HUMAN; ENSEMBL ID: ENSG00000008086; HGNC ID: 11411
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Epileptic encephalopathy, early infantile, 2
Angelman syndrome-like
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CDKL5 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of CDKL5 mRNAdecreases expression 20064835
D002945 Cisplatin Cisplatin results in increased expression of CDKL5 proteinincreases expression 16803524
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D058186 Acute Kidney Injury Cisplatin 4.4415814532 12690470 17670903
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.8120464547 20127859
MESH:D000230 Adenocarcinoma Cisplatin 4.8117638652 11798837
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D017204 Angelman Syndrome marker/mechanism 19241098
MESH:D000799 Angioedema Acetaminophen 4.7110982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D019046 Bone Marrow Neoplasms Cisplatin 5.7514601052
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.2617474063 20146248
MESH:D001943 Breast Neoplasms Cisplatin 2.2619526202 18382427
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.223084413
MESH:D006528 Carcinoma, Hepatocellular Cisplatin 3.2217982673
MESH:D002289 Carcinoma, Non-Small-Cell Lung Cisplatin 3.1516685392 12023789
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 5.0920419170
MESH:D002294 Carcinoma, Squamous Cell Cisplatin 5.0917066447 6189445 18337622
MESH:D002386 Cataract Acetaminophen 2.8110977129
MESH:D015179 Colorectal Neoplasms Cisplatin 2.3315273666
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6812392966 17562736 16227642 18071297 19923254 14550746 11834606 10774834 16109766 12540782 19420014 11739529 15619225 14725611 16081117 11529661 19164858 18713872 2444490 16781746 12958197 10663392 12594235 11461765 14986274 11743745 10915739 16393943 19085960 19416960 15968718 16485898 17522070 19370779 11421492 12153990 17906064 12705907 16177239 11287661 19739265
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.9619426721
MESH:D004362 Drug Toxicity Cisplatin 4.1812649298 12231392 15033597 19839026
OMIM:308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 marker/mechanism
OMIM:300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 marker/mechanism
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.9016530937
MESH:D004938 Esophageal Neoplasms Cisplatin 4.9016481741 15173087 16785472 15464296 17638652
MESH:D005756 Gastritis Acetaminophen 4.5416983495
MESH:D006258 Head and Neck Neoplasms Cisplatin 3.9915464296 15102660
MESH:D034381 Hearing Loss Cisplatin 4.7119898482
MESH:D006319 Hearing Loss, Sensorineural Cisplatin 4.8115464296
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8520471113
MESH:D006689 Hodgkin Disease Cisplatin 4.0016170182 16200630
MESH:D006930 Hyperalgesia Acetaminophen 3.0616870215
MESH:D007673 Kidney Cortex Necrosis Cisplatin 6.0115464296
MESH:D007674 Kidney Diseases Acetaminophen 6.8815629191 12587719
MESH:D007674 Kidney Diseases Cisplatin 6.8812231392 18289764 19839026 15190930 12649298
MESH:D007683 Kidney Tubular Necrosis, Acute Cisplatin 5.6611231351
MESH:D008107 Liver Diseases Acetaminophen 1.7112969438 11587558 16611625 12587719 19460945 16610002 19784758 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6817185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1720195826 21137059
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.6820464547 20064080 17053015 18816296 18520028 6695378 20135361 20869020 18569708
MESH:D008175 Lung Neoplasms Cisplatin 2.6817225452 11798837 6189445
MESH:D008545 Melanoma Cisplatin 2.5218505091 18332650 17023156 12883367 16432458 12393984 15577323 11135225 16809738 18176117 16248763 12374674 17761969
MESH:D018328 Melanoma, Amelanotic Cisplatin 5.5215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 4.2219513568
MESH:D008654 Mesothelioma Cisplatin 3.3817638057
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D009369 Neoplasms Benzo(a)pyrene 5.8111141357
MESH:D009369 Neoplasms Cisplatin 5.8116773208
MESH:D009395 Nephritis, Interstitial Cisplatin 5.3615464296
MESH:D009447 Neuroblastoma Cisplatin 3.648761367
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2618514411
MESH:D017599 Neuroectodermal Tumors Cisplatin 5.448761367
MESH:D010051 Ovarian Neoplasms Cisplatin 2.986897625 15464296 17225452 19769630
MESH:D010146 Pain Acetaminophen 2.7716870215
MESH:D010190 Pancreatic Neoplasms Cisplatin 3.1119003803
MESH:D010523 Peripheral Nervous System Diseases Cisplatin 4.8915464296
MESH:D010997 Pleural Neoplasms Cisplatin 6.2117638057
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9017292933
MESH:D051437 Renal Insufficiency Cisplatin 5.0615464296
MESH:D015518 Rett Syndrome marker/mechanism 19241098
MESH:D012512 Sarcoma, Ewing's Cisplatin 5.0114601052
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5410029692 19755658
MESH:D055752 Small Cell Lung Carcinoma Cisplatin 6.2115464296
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.6220155912 2093021
MESH:D013274 Stomach Neoplasms Cisplatin 2.6215958060 18396642 17522103
MESH:D013736 Testicular Neoplasms Cisplatin 5.1617225452 15464296
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.6817053015
MESH:D001749 Urinary Bladder Neoplasms Cisplatin 5.6812973940 17225452 15464296
MESH:D014581 Urticaria Acetaminophen 3.5010982225
MESH:D002583 Uterine Cervical Neoplasms Cisplatin 4.6516803524
MESH:D014625 Vaginal Neoplasms Cisplatin 5.2615577323
MESH:D014839 Vomiting Cisplatin 5.5811897121
No data
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Syndromic Genes

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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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