AutismKB 2.0

Annotation Detail for SP5


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Basic Information Top
Gene Symbol:SP5 ( - )
Gene Full Name: Sp5 transcription factor
Band: 2q31.1
Quick LinksEntrez ID:389058; OMIM: 609391; Uniprot ID:SP5_HUMAN; ENSEMBL ID: ENSG00000204335; HGNC ID: 14529
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200106Regulation of Wnt-mediated beta catenin signaling and target gene transcription
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of SP5 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of SP5 mRNAdecreases expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of SP5 mRNAdecreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SP5 mRNAaffects binding|decreases expression|increases activity 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SP5 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 11752688 14514962
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0520127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.846695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.7716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.5619183758
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.0419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.0412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8617474063 20146248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7612371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis Cyclosporine 8.6319486331
MESH:D002779 Cholestasis pirinixic acid 8.6319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.228697196 15668235 12621046 16354765 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8310915739 17522070 11743745 12594235 19739265 2444490 15968718 12392966 14725611 16109766 16781746 16485898 11739529 19370779 11287661 17562736 19416960 16081117 12705907 10663392 19085960 11421492 14550746 15619225 12540782 19420014 18071297 11529661 17906064 16227642 11461765 12958197 12153990 16393943 16177239 19923254 14986274 18713872 10774834 19164858 11834606
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema pirinixic acid 7.7912083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.7911000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Cyclosporine 8.8219224547
MESH:D005234 Fatty Liver pirinixic acid 8.8219236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Cyclosporine 10.1412168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.1420067830
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9911294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly pirinixic acid 9.9216221962 19772884 18467677 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.9216120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6618606429 15340226 16354765 8697196 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Cyclosporine 5.3110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3118670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Acetaminophen 6.4112587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.418314463 18776723 10903974
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0412371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2212878042
MESH:D008107 Liver Diseases Acetaminophen 1.6919460945 12969438 19784758 16611625 19014921 12587719 16610002 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.9620195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 7.9616377806 15890375 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2618520028 18816296 17053015 20464547 6695378 18569708 20064080 20869020 20135361
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2611884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.3311141357
MESH:D009369 Neoplasms pirinixic acid 5.3317405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311222880 11118676 11896295 11399792
MESH:D011471 Prostatic Neoplasms marker/mechanism 17013881
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9519755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9516192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2917053015
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
No data
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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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