AutismKB 2.0

Annotation Detail for PPFIA1


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Basic Information Top
Gene Symbol:PPFIA1 ( FLJ41337,FLJ42630,FLJ43474,LIP.1,LIP1,LIPRIN,MGC26800 )
Gene Full Name: protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
Band: 11q13.3
Quick LinksEntrez ID:8500; OMIM: 611054; Uniprot ID:LIPA1_HUMAN; ENSEMBL ID: ENSG00000131626; HGNC ID: 9245
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
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of PPFIA1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PPFIA1 mRNAaffects expression 21346803
D006710 Homocysteine Homocysteine results in decreased expression of PPFIA1 mRNAdecreases expression 17326132
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 PPFIA1 mRNAdecreases expression 19150397
D016572 Cyclosporine Cyclosporine results in increased expression of PPFIA1 mRNAincreases expression 20106945
C008493 methylselenic acid methylselenic acid affects the expression of PPFIA1 mRNAaffects expression 14617803
C080955 N-(2-cyclohexyloxy-4-nitrophenyl)methanesulfonamide N-(2-cyclohexyloxy-4-nitrophenyl)methanesulfonamide results in increased expression of PPFIA1 mRNAincreases expression 11494140
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PPFIA1 mRNAincreases expression 17942748
C025643 vinclozolin vinclozolin results in decreased expression of PPFIA1 mRNAdecreases expression 18042343
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 14514962 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001008 Anxiety Disorders vinclozolin 3.8019015723
MESH:D001321 Autistic Disorder Homocysteine 3.0316297937 20468076
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.0416705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.0416705839
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.956135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.9520889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.9512371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Cyclosporine 3.0619486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1815668235 8697196 15340226 16354765 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2414669216 17141729
MESH:D003324 Coronary Artery Disease Homocysteine 3.8216379339
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003456 Cryptorchidism vinclozolin 4.5814966744
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.7718551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.7718551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.4718551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.4721346803 18551238
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2216714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D017889 Exfoliation Syndrome Homocysteine 5.9916504073
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Cyclosporine 3.0619224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Cyclosporine 9.3612168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.3620067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.2216973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.6216417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D005901 Glaucoma Homocysteine 5.5116504073
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Homocysteine 7.2719638421
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.2710048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.368697196 16959395 15340226 18606429 16354765
MESH:D020138 Hyperhomocysteinemia Homocysteine 4.8917292331 18234410 17369066
MESH:D006973 Hypertension Cyclosporine 5.1710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1718850075 18670907
MESH:D007248 Infertility, Male vinclozolin 3.1716467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.448314463 18776723 10903974
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.3916705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.3916705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.3912371664
MESH:D007984 Leydig Cell Tumor vinclozolin 5.0216417039
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.597678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5916984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.142876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1412151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008545 Melanoma N-(2-cyclohexyloxy-4-nitrophenyl)methanesulfonamide 3.5516487513
MESH:D008591 Meningomyelocele Homocysteine 5.7916602021
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009203 Myocardial Infarction Homocysteine 3.7917412321
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.3218551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.3218551238 7678174
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4718481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.5416049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.5416049721
MESH:D010190 Pancreatic Neoplasms N-(2-cyclohexyloxy-4-nitrophenyl)methanesulfonamide 4.1111504793
MESH:D010300 Parkinson Disease Homocysteine 3.6316275827
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.4611399792 11118676 11896295 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.4618042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.2218220299
MESH:D011471 Prostatic Neoplasms methylselenic acid 3.8616205645
MESH:D011472 Prostatitis vinclozolin 5.2218629315
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012559 Schizophrenia Homocysteine 3.1316641680
MESH:D012640 Seizures 2,4-dinitrotoluene 6.3218551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.3218551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.2416049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2416049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.9610091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.9610091137
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
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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