AutismKB 2.0

Annotation Detail for CCDC88C


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Basic Information Top
Gene Symbol:CCDC88C ( DAPLE,FLJ00354,HkRP2,KIAA1509 )
Gene Full Name: coiled-coil domain containing 88C
Band: 14q32.11-q32.12
Quick LinksEntrez ID:440193; OMIM: 611204; Uniprot ID:DAPLE_HUMAN; ENSEMBL ID: ENSG00000015133; HGNC ID: 19967
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
D000082 Acetaminophen Acetaminophen affects the expression of CCDC88C mRNAaffects expression 17562736
D006710 Homocysteine Homocysteine results in decreased expression of CCDC88C mRNAdecreases expression 17326132
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of CCDC88C mRNAdecreases expression 20064835
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 CCDC88C mRNAdecreases expression 19150397
D002117 Calcitriol Calcitriol results in increased expression of CCDC88C mRNAincreases expression 16002434
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CCDC88C mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3111752688 14514962 15322242
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001321 Autistic Disorder Acetaminophen 2.2418445737
MESH:D001321 Autistic Disorder Homocysteine 2.2420468076 16297937
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8517474063 20146248
MESH:D001943 Breast Neoplasms Calcitriol 1.8511237771
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.9420419170
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 4.9411237771
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9320889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2112621046 15668235 16354765 8697196 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D003324 Coronary Artery Disease Homocysteine 3.8416379339
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.812444490 11739529 12594235 14550746 19085960 16485898 12958197 19370779 14986274 16781746 19420014 18071297 19164858 18713872 19923254 12392966 11834606 16393943 16227642 12705907 15619225 19416960 16177239 11529661 16081117 14725611 11287661 10774834 19739265 12153990 10915739 17562736 16109766 12540782 17906064 10663392 11421492 11743745 17522070 11461765 15968718
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8120420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.3115138306
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5720426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5716530937
MESH:D017889 Exfoliation Syndrome Homocysteine 6.1616504073
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005901 Glaucoma Homocysteine 5.6416504073
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 12.0920471113
MESH:D006330 Heart Defects, Congenital Homocysteine 12.0919638421
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 12.0910048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3116120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5715340226 18606429 8697196 16959395 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D020138 Hyperhomocysteinemia Homocysteine 4.9918234410 17292331 17369066
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3615629191 12587719
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6911587558 12969438 16610002 16611625 12587719 19784758 19014921 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5417185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.6621137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2517053015 6695378 18520028 18569708 20464547 18816296 20135361 20064080 20869020
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2511884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D008591 Meningomyelocele Homocysteine 5.9516602021
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009203 Myocardial Infarction Homocysteine 3.8217412321
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3011141357
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D010300 Parkinson Disease Homocysteine 3.6616275827
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511896295 11118676 11222880 11399792
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.2415572423
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.2117292933
MESH:D011471 Prostatic Neoplasms Calcitriol 3.2116289102 16644109 12479363 15754350 18247401
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012559 Schizophrenia Homocysteine 3.1316641680
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2817053015
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
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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