AutismKB 2.0

Annotation Detail for PRTFDC1


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Basic Information Top
Gene Symbol:PRTFDC1 ( FLJ11888,HHGP )
Gene Full Name: phosphoribosyl transferase domain containing 1
Band: 10p12.1
Quick LinksEntrez ID:56952; OMIM: 610751; Uniprot ID:PRDC1_HUMAN; ENSEMBL ID: ENSG00000099256; HGNC ID: 23333
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
P02788Xanthine and guanine salvage pathway
P02723Adenine and hypoxanthine salvage pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C014347 decitabine decitabine affects the methylation of PRTFDC1 promoteraffects methylation 17599052
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of PRTFDC1 mRNAaffects cotreatment|increases expression 17183730
D008701 Methapyrilene Methapyrilene results in decreased expression of PRTFDC1 mRNAdecreases expression 16393664
C406082 monomethylarsonous acid [monomethylarsonous acid affects the acetylation of HIST3H3 protein] which affects the methylation of PRTFDC1 promoteraffects acetylation|affects methylation 18448484
C017947 sodium arsenite [sodium arsenite affects the acetylation of HIST3H3 protein] which affects the methylation of PRTFDC1 promoteraffects acetylation|affects methylation 18448484
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PRTFDC1 mRNAdecreases expression 17884332
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of PRTFDC1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.6615322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.668875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2119490988
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.1415276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.3516712894 17306315
MESH:D000550 Amblyopia Valproic Acid 5.6817688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.7917497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9919460635 17157402 15238991 17507914 18558336 18396377 18985861 17688650 20603192 18775368 19232924 16609825 18316065 18940202 18177632
MESH:D001714 Bipolar Disorder Valproic Acid 3.2017594078 20046352
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.5715746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.578888407
MESH:D001943 Breast Neoplasms decitabine 2.0719208741 18320071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 2.0016507464 17306315 15276417
MESH:D002294 Carcinoma, Squamous Cell marker/mechanism 17599052
MESH:D002294 Carcinoma, Squamous Cell decitabine 5.0219215824
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 5.0218572023
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5016120746 18850075 18670907
MESH:D002471 Cell Transformation, Neoplastic monomethylarsonous acid 7.7819716837
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 7.7819524636 20056578
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7920734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.208697196 12621046 16354765 15340226 15668235
MESH:D003110 Colonic Neoplasms decitabine 2.3717616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5420055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.5417688650 8888407 16575769
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9920420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 3.991733752 19641884
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004421 Dystonia Valproic Acid 4.351851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3515322242 18230668 16714409
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.5619294695
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2910568697 9294722
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.5117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.3616628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0620417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.846426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.667750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.463659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Valproic Acid 3.5819224547 14986274
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005315 Fetal Diseases Valproic Acid 5.3316575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.468888407 18558336
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D005833 Genital Neoplasms, Female sodium arsenite 5.0816452187
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.6619215824
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2516120746 12621046 15340226
MESH:D006689 Hodgkin Disease sodium arsenite 3.4012676792
MESH:D006849 Hydrocephalus Valproic Acid 5.2617688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4915340226 16959395 18606429 16354765 8697196
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.9816612254
MESH:D007248 Infertility, Male decitabine 7.5017581917
MESH:D007248 Infertility, Male sodium arsenite 7.5012646999 15346721
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007674 Kidney Diseases sodium arsenite 2.9420008137
MESH:D007938 Leukemia decitabine 3.1919235587 18980019
MESH:D007951 Leukemia, Myeloid decitabine 4.2817236224 18454857 19117987
MESH:D015470 Leukemia, Myeloid, Acute decitabine 4.1318460780 18206229 19010910 18704418 17679729 19387464
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.1317596541 16294345
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.9118055864
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms Methapyrilene 8.0715890375
MESH:D008113 Liver Neoplasms sodium arsenite 8.0716712894 15276417
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.0716984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2612151625
MESH:D008171 Lung Diseases sodium arsenite 3.3519095001
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7017228818
MESH:D008175 Lung Neoplasms sodium arsenite 2.3719931552 17077188 15276417 16712894 17306315
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3719555203 11884234
MESH:D008223 Lymphoma decitabine 3.6119470736
MESH:D008545 Melanoma decitabine 3.5816505122 17785578
MESH:D008545 Melanoma sodium arsenite 3.5816487513 19082730
MESH:D008881 Migraine Disorders Valproic Acid 3.3818803445 18765137
MESH:D009062 Mouth Neoplasms marker/mechanism 17599052
MESH:D009101 Multiple Myeloma decitabine 3.5418172295
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.318888407
MESH:D009190 Myelodysplastic Syndromes decitabine 7.9819157545 19010910 16882708 18608210
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.9817596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009369 Neoplasms decitabine 5.6317925555 19470736 19116145
MESH:D009369 Neoplasms sodium arsenite 5.6311559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 4.0220056578
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D009436 Neural Tube Defects sodium arsenite 7.9112854658
MESH:D009436 Neural Tube Defects Valproic Acid 7.9116359493 8888407
MESH:D010051 Ovarian Neoplasms marker/mechanism 17303177
MESH:D010051 Ovarian Neoplasms decitabine 5.2419259094 19331143
MESH:D010051 Ovarian Neoplasms sodium arsenite 5.2415276417 17306315
MESH:D010190 Pancreatic Neoplasms decitabine 2.8419294695
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.8211896295 11118676 11399792 11222880
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.8220603192
MESH:D055728 Primary Myelofibrosis decitabine 5.0917616702
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.2516039940
MESH:D019310 Pseudolymphoma Valproic Acid 4.9811422049 12752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012208 Rhabdomyosarcoma decitabine 12.0119155313
MESH:D012208 Rhabdomyosarcoma Valproic Acid 12.0119155313
MESH:D012559 Schizophrenia Valproic Acid 2.0915737665 19110320
MESH:D012640 Seizures Valproic Acid 2.911511512 17978042 3137016 11738929 16876388 15475178 14763951 11044598
MESH:D012871 Skin Diseases monomethylarsonous acid 3.4317431481
MESH:D012878 Skin Neoplasms sodium arsenite 5.9718572023 19524636
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9716192470
MESH:D016135 Spinal Dysraphism sodium arsenite 10.2612854658
MESH:D016135 Spinal Dysraphism Valproic Acid 10.2619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9812833885
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013964 Thyroid Neoplasms decitabine 3.5417967635
MESH:D014178 Translocation, Genetic Valproic Acid 5.6817262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.923119515
MESH:D001749 Urinary Bladder Neoplasms decitabine 9.0719087683 17616700
MESH:D001749 Urinary Bladder Neoplasms monomethylarsonous acid 9.0720375083
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 9.0716712894 16452187 17306315 11723127
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.008888407
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 4.0311813266
MESH:D014604 Uveal Neoplasms decitabine 5.3617785578
MESH:D014652 Vascular Diseases sodium arsenite 4.8217056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
Pathway ID Pathway Name
KEGG:00983 Drug metabolism - other enzymes
KEGG:01100 Metabolic pathways
KEGG:00230 Purine metabolism
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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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