AutismKB 2.0

Annotation Detail for PCYT1B


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Basic Information Top
Gene Symbol:PCYT1B ( CCTB,CTB )
Gene Full Name: phosphate cytidylyltransferase 1, choline, beta
Band: Xp22.11
Quick LinksEntrez ID:9468; OMIM: 604926; Uniprot ID:PCY1B_HUMAN; ENSEMBL ID: ENSG00000102230; HGNC ID: 8755
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-3561choline biosynthesis III
PWY3O-450phosphatidylcholine biosynthesis I
Pathway IDPathway Name
hsa00564Glycerophospholipid metabolism
hsa01100Metabolic pathways
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of PCYT1B mRNAincreases expression 19933214
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PCYT1B mRNAaffects expression 16483693
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PCYT1B mRNAaffects binding|increases activity|increases expression 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PCYT1B mRNAincreases expression 19933214
C025643 vinclozolin vinclozolin affects the expression of PCYT1B mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3814514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.7716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001008 Anxiety Disorders vinclozolin 3.9319015723
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 Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 16120746 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.228697196 15340226 12621046 16354765 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003456 Cryptorchidism vinclozolin 4.7814966744
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema pirinixic acid 7.7912083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.7912711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5118230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.379294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver pirinixic acid 3.1420131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.4716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.9116417039
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4910048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly pirinixic acid 9.9219176532 18467677 16221962 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.9216120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6615340226 16354765 18606429 16959395 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
MESH:D007248 Infertility, Male vinclozolin 3.2616467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007984 Leydig Cell Tumor vinclozolin 5.2716417039
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2212878042
MESH:D008113 Liver Neoplasms pirinixic acid 4.6116377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6116984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
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 pirinixic acid 2.0917405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.3511118676 11896295 11399792 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 11.3519015723 18220299 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.4718220299
MESH:D011472 Prostatitis vinclozolin 5.4718629315
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
Pathway ID Pathway Name
KEGG:00564 Glycerophospholipid metabolism
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00122 - Choline Dietary supplement;Micronutrient;Nootropic Agents;Lipotropic Agents
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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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