AutismKB 2.0

Annotation Detail for PRF1


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Basic Information Top
Gene Symbol:PRF1 ( FLH2,HPLH2,MGC65093,P1,PFN1,PFP )
Gene Full Name: perforin 1 (pore forming protein)
Band: 10q22.1
Quick LinksEntrez ID:5551; OMIM: 170280; Uniprot ID:PERF_HUMAN; ENSEMBL ID: ENSG00000180644; HGNC ID: 9360
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05332Graft-versus-host disease
hsa04650Natural killer cell mediated cytotoxicity
hsa05416Viral myocarditis
hsa05320Autoimmune thyroid disease
hsa05330Allograft rejection
hsa04940Type I diabetes mellitus
No data
Pathway IDPathway Name
200184Downstream signaling in naive CD8+ T cells
200158IL2 signaling events mediated by STAT5
200062TCR signaling in naive CD8+ T cells
200148Caspase cascade in apoptosis
200197IL12 signaling mediated by STAT4
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Immune system diseases
Primary immunodeficiency
H00109Familial hemophagocyic lymphohistiocytosis
No data
Desease Name
lymphoma
CANCER
HTLV-1 infection
obesity (extreme)
METABOLIC
INFECTION
Desease Name
Obesity (extreme)
Desease Name
Lymphoma, non-Hodgkin
Hemophagocytic lymphohistiocytosis, familial, 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PRF1 mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PRF1 mRNAaffects expression 16483693
D001151 Arsenic Arsenic affects the expression of PRF1 mRNAaffects expression 18414638
D001374 Azacitidine Azacitidine inhibits the reaction [IL2 protein results in increased secretion of PRF1 protein]decreases reaction|increases secretion 19394699
D000431 Ethanol Ethanol inhibits the reaction [IL2 protein results in increased expression of PRF1 mRNA]decreases reaction|increases expression 12700414
D005620 Freund's Adjuvant [Urethane co-treated with Freund's Adjuvant] results in decreased expression of PRF1 mRNAaffects cotreatment|decreases expression 12400877
C070081 fulvestrant fulvestrant results in decreased expression of PRF1 mRNAdecreases expression 20145137
C070081 fulvestrant fulvestrant results in decreased expression of PRF1 proteindecreases expression 20145137
C070081 fulvestrant [fulvestrant results in increased expression of TGFB1 protein] which results in increased expression of PRF1 mRNAincreases expression 20145137
C020972 pyrrolidine dithiocarbamic acid pyrrolidine dithiocarbamic acid inhibits the reaction [IL2 protein results in increased expression of PRF1 mRNA]decreases reaction|increases expression 12700414
D013629 Tamoxifen Tamoxifen results in decreased expression of PRF1 mRNAdecreases expression 20145137
D013629 Tamoxifen Tamoxifen results in decreased expression of PRF1 proteindecreases expression 20145137
D013629 Tamoxifen [Tamoxifen results in increased expression of TGFB1 protein] which results in increased expression of PRF1 mRNAincreases expression 20145137
C004648 testosterone enanthate testosterone enanthate affects the expression of PRF1 mRNAaffects expression 17440010
D013792 Thalidomide Thalidomide results in increased expression of PRF1increases expression 17089043
D014107 Tosyllysine Chloromethyl Ketone Tosyllysine Chloromethyl Ketone inhibits the reaction [IL2 protein results in increased expression of PRF1 mRNA]decreases reaction|increases expression 12700414
D014107 Tosyllysine Chloromethyl Ketone Tosyllysine Chloromethyl Ketone results in decreased expression of PRF1 mRNAdecreases expression 11266287
D014520 Urethane [Urethane co-treated with Freund's Adjuvant] results in decreased expression of PRF1 mRNAaffects cotreatment|decreases expression 12400877
D014520 Urethane Urethane results in decreased expression of PRF1 mRNAdecreases expression 12400877
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.6814745880
MESH:D000014 Abnormalities, Drug-Induced Ethanol 9.4917676605 18926900
MESH:D000014 Abnormalities, Drug-Induced Thalidomide 9.498333272
MESH:D000138 Acidosis Ammonium Chloride 10.8718287403
MESH:D000138 Acidosis Ethanol 10.8711192467
MESH:D000230 Adenocarcinoma Urethane 3.3418316556
MESH:D002282 Adenocarcinoma, Bronchiolo-Alveolar Urethane 5.8415814487
MESH:D000236 Adenoma Urethane 4.0410822126 16926031 6695378 11497255 17093202 10530776 17195641
MESH:D018246 Adrenocortical Adenoma Arsenic 5.3517306315
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.4515451039 15451040
MESH:D000690 Amyotrophic Lateral Sclerosis Thalidomide 4.4016510725
MESH:D000853 Anophthalmos Ethanol 4.9215513904
MESH:D001008 Anxiety Disorders Ethanol 4.0711141031
MESH:D020261 Arsenic Poisoning Arsenic 2.8916251483 16835338 18414634 12569548
MESH:D001169 Arthritis, Experimental Thalidomide 4.279598899
MESH:D050197 Atherosclerosis Arsenic 3.2919371607 12928151
MESH:D001284 Atrophy fulvestrant 4.9411514358
MESH:D001321 Autistic Disorder marker/mechanism 18762240
MESH:D001862 Bone Resorption Freund's Adjuvant 5.2116769263
MESH:D001943 Breast Neoplasms fulvestrant 2.4718984771
MESH:D001943 Breast Neoplasms Tamoxifen 2.4719189210 20390343 20135344 20544844 19059307 15565566 18629630 17242785 19011961 19410462 18815881 17261762 16273361 19200415 19142967 18821012 19221464 18997820 17893378 16873071 18855134 19289846 19244106 17440819 19189212 15668708 16202921 19103187 11161223 16818667 19155303 19115204 19084267 18425577 18351453 19066611 19288272 19487384 20065188 21138602 18984771 20859285 20005174 17049068 21152245
MESH:D002056 Burns Ethanol 4.7616374292
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6317687452 15504454
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6119066611
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 9.0416705839
MESH:D006528 Carcinoma, Hepatocellular Arsenic 9.0417306315 16507464
MESH:D006528 Carcinoma, Hepatocellular Ethanol 9.0415763234 15289165 18788625
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 9.0416924424
MESH:D006528 Carcinoma, Hepatocellular Thalidomide 9.0416313753
MESH:D002294 Carcinoma, Squamous Cell Arsenic 2.7118922899 15504454 17687452
MESH:D002295 Carcinoma, Transitional Cell Arsenic 9.7618640142
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 9.7617572228
MESH:D006332 Cardiomegaly Ethanol 3.4819332462
MESH:D002318 Cardiovascular Diseases Arsenic 3.5019152805 15738583 17938729
MESH:D002340 Carotid Artery Diseases Arsenic 4.3818022660 16973168
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.826135515
MESH:D018281 Cholangiocarcinoma Thalidomide 4.9418291259
MESH:D002971 Cleft Lip Ethanol 3.6215513904
MESH:D002972 Cleft Palate Ethanol 6.6715513904
MESH:D002972 Cleft Palate Urethane 6.6712810352
MESH:D003092 Colitis Thalidomide 4.9516680017
MESH:D015179 Colorectal Neoplasms Azacitidine 2.7219934284
MESH:D016510 Corneal Neovascularization Thalidomide 5.689301478
MESH:D003389 Cranial Nerve Diseases Thalidomide 6.449200351
MESH:D019465 Craniofacial Abnormalities Ethanol 3.2810194807 15451039 11873399 11198716 19302082 15513904 15451040
MESH:D019465 Craniofacial Abnormalities Thalidomide 3.289200351
MESH:D003424 Crohn Disease Thalidomide 4.2016078585
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1218551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.4719031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.5519279558
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.1618551238 21346803
MESH:D056486 Drug-Induced Liver Injury Ethanol 4.1611566570
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 3.6319031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1020544844 17893378 19155303 16202921
MESH:D004938 Esophageal Neoplasms Ethanol 2.7716704527
MESH:D005234 Fatty Liver Ethanol 8.3019236843 16409862 18620774
MESH:D005234 Fatty Liver Tamoxifen 8.3014986274 19224547
MESH:D005235 Fatty Liver, Alcoholic Ethanol 5.8017920746
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.2816709447
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.4210194807 15451040 16946407 15513904
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.6414745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3019069698
MESH:D005534 Foot Diseases Arsenic 5.696392382
MESH:D005756 Gastritis Ethanol 4.8315046732
MESH:D005871 Giant Lymph Node Hyperplasia Thalidomide 6.4412701121
MESH:D005910 Glioma Thalidomide 3.8416327979
MESH:D006331 Heart Diseases Urethane 4.2916046796
MESH:C537250 Hemophagocytic lymphohistiocytosis, familial, 2 marker/mechanism
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 5.8817440010
MESH:D006930 Hyperalgesia Ethanol 8.7518783367
MESH:D006930 Hyperalgesia Freund's Adjuvant 8.7516769263
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.5317050553
MESH:D006973 Hypertension Arsenic 2.909931084 16076760 11953799
MESH:D006987 Hypesthesia Arsenic 5.6916093927
MESH:D007248 Infertility, Male fulvestrant 3.8011514358
MESH:D007249 Inflammation Freund's Adjuvant 8.9416793879
MESH:D007249 Inflammation Tamoxifen 8.9419457130
MESH:D007249 Inflammation Thalidomide 8.9416134734
MESH:D007251 Influenza, Human pyrrolidine dithiocarbamic acid 5.6918473937
MESH:D007569 Jaw Abnormalities Ethanol 4.4915513904
MESH:D007642 Keratosis Arsenic 5.1116930632 12749816
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.6116705839
MESH:D007680 Kidney Neoplasms Tamoxifen 7.6118625569
MESH:D007859 Learning Disorders Ethanol 4.3115451040
MESH:D007898 Leishmaniasis, Visceral Thalidomide 4.4016514283
MESH:D007938 Leukemia Azacitidine 3.7319148494
MESH:D007951 Leukemia, Myeloid Azacitidine 4.7019077051
MESH:D015470 Leukemia, Myeloid, Acute Azacitidine 4.6618720364 17596541
MESH:D015470 Leukemia, Myeloid, Acute Thalidomide 4.6618720364
MESH:D054429 Leukemia, Myelomonocytic, Juvenile Azacitidine 5.2819299654
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.6017339181
MESH:D017880 Limb Deformities, Congenital Ethanol 8.9317676605
MESH:D017880 Limb Deformities, Congenital Thalidomide 8.9310473037
MESH:D008064 Lipidoses Tamoxifen 3.2115342952 17567588
MESH:D008103 Liver Cirrhosis Ethanol 7.4015289165
MESH:D008103 Liver Cirrhosis Thalidomide 7.4016943688 17174718
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.2118295389
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 5.2018166357
MESH:D008106 Liver Cirrhosis, Experimental pyrrolidine dithiocarbamic acid 5.2015078482
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 5.2018564211
MESH:D008106 Liver Cirrhosis, Experimental Thalidomide 5.2015465738
MESH:D008107 Liver Diseases Arsenic 2.5611134558
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.7617207112 17347304
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.037678174
MESH:D008113 Liver Neoplasms Arsenic 11.0316368122
MESH:D008113 Liver Neoplasms Tamoxifen 11.0316684651
MESH:D008113 Liver Neoplasms Urethane 11.0317559639 16391232 17093202
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.592876786 2876784 6135515
MESH:D055370 Lung Injury pyrrolidine dithiocarbamic acid 5.0916129981
MESH:D008175 Lung Neoplasms Arsenic 5.0517306315 17976673 19168569
MESH:D008175 Lung Neoplasms Azacitidine 5.0521224363
MESH:D008175 Lung Neoplasms Tamoxifen 5.0518625569
MESH:D008175 Lung Neoplasms Urethane 5.0517093202 12957351 16788158 16289808 11552296 11893704 12765245 11497255 11062179 6695378 14587096 16926031 11307925 11323394 17195641 10822126 12117781 12466968 11246140 16204055 15136453 15902970 7750092 11807781 10530776 10997738 16007126 17255336 16391232 16337739 11074608 10779650 11992545 11544531 15166089
OMIM:605027 LYMPHOMA, NON-HODGKIN, FAMILIAL marker/mechanism
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.8819428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.6714580682 16827153 11731420 19196722 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.6819453300
MESH:D008545 Melanoma Tamoxifen 3.7519393235 12393984
MESH:D008545 Melanoma Thalidomide 3.7512829675 16098027 17089043
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3015990972
MESH:D008569 Memory Disorders Ethanol 4.2815451040 18411066
MESH:D009006 Monosomy Azacitidine 6.2219299654
MESH:D009101 Multiple Myeloma Azacitidine 8.2019549372 18443271
MESH:D009101 Multiple Myeloma Thalidomide 8.2015741222 19112201 19372569 19112817 15867202 17168659 15744524 16445831 15920492 15939924
MESH:D009190 Myelodysplastic Syndromes Azacitidine 8.2819805378 17611569 17596541 18720364
MESH:D009190 Myelodysplastic Syndromes Thalidomide 8.2818720364
MESH:D017202 Myocardial Ischemia Arsenic 4.0515371236
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.9818551238 7678174
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5719393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5419410462
MESH:D009369 Neoplasms Urethane 3.5415625555
MESH:D009374 Neoplasms, Experimental Urethane 4.7815582191
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.1319200415 19189210 19196722
MESH:D009421 Nervous System Malformations Thalidomide 5.0216859833
MESH:D009436 Neural Tube Defects Arsenic 3.5016620997
MESH:D020078 Neurogenic Inflammation Arsenic 4.4617056641
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5116049721
MESH:D010051 Ovarian Neoplasms Arsenic 8.3817306315
MESH:D010051 Ovarian Neoplasms Thalidomide 8.3816288038
MESH:D010051 Ovarian Neoplasms Urethane 8.3816391232
MESH:D010190 Pancreatic Neoplasms Ethanol 2.9912384795
MESH:D010291 Paresis Thalidomide 6.449200351
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.2716093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.116392382 15371236 16905509
MESH:D010911 Pituitary Neoplasms Urethane 5.5216391232
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Thalidomide 4.2717031469
MESH:D011471 Prostatic Neoplasms Arsenic 1.9216140617
MESH:D011471 Prostatic Neoplasms Azacitidine 1.9218324645
MESH:D011471 Prostatic Neoplasms pyrrolidine dithiocarbamic acid 1.9216139439
MESH:D011471 Prostatic Neoplasms Tamoxifen 1.9215067354
MESH:D011471 Prostatic Neoplasms Thalidomide 1.9216729912
MESH:D011507 Proteinuria Arsenic 4.0921343184
MESH:D011536 Prurigo Thalidomide 6.4412755975
MESH:D012128 Respiratory Distress Syndrome, Adult pyrrolidine dithiocarbamic acid 5.0816129981
MESH:D019873 Schnitzler Syndrome Thalidomide 6.0616096327
MESH:D012640 Seizures 2,6-dinitrotoluene 6.2818551238
MESH:D012640 Seizures Ethanol 6.289754883
MESH:D012871 Skin Diseases Arsenic 2.7616702368 19834688 6392382 18709164 17050553 15952646 16759981 17453740 17938729 16353154 17548696
MESH:D012878 Skin Neoplasms Arsenic 6.4416251483 17050553 17029826 17976673 19538983 15504454
MESH:D012878 Skin Neoplasms Urethane 6.4411807781
MESH:D013088 Spermatocele Tamoxifen 4.4316709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.1519457130
MESH:D013274 Stomach Neoplasms Ethanol 2.3018456281
MESH:D013276 Stomach Ulcer Ethanol 8.0716755016 9562338 11906479 17189318 17918041 9211565
MESH:D013276 Stomach Ulcer Thalidomide 8.0715138204
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.339754883
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.5316049721
MESH:D001749 Urinary Bladder Neoplasms Arsenic 8.5317976673 17306315 19322015 18640142 11144890 19429237 15987713
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.5317572228 8653321 16712894
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4310091137
MESH:D014652 Vascular Diseases Arsenic 12.6317056641
MESH:D014652 Vascular Diseases Thalidomide 12.6315741222
MESH:D019043 Vascular Neoplasms Urethane 6.0510620525
Pathway ID Pathway Name
KEGG:05330 Allograft rejection
KEGG:05320 Autoimmune thyroid disease
KEGG:05332 Graft-versus-host disease
KEGG:04650 Natural killer cell mediated cytotoxicity
KEGG:04940 Type I diabetes mellitus
KEGG:05416 Viral myocarditis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33732
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450379mercaptopurine
    PA450428methotrexate
    Drug Bank Top

    Simple Query:


      (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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