AutismKB 2.0

Annotation Detail for PCSK5


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Basic Information Top
Gene Symbol:PCSK5 ( FLJ11149,FLJ16215,PC5,PC6,PC6A,SPC6 )
Gene Full Name: proprotein convertase subtilisin/kexin type 5
Band: 9q21.13
Quick LinksEntrez ID:5125; OMIM: 600488; Uniprot ID:PCSK5_HUMAN; ENSEMBL ID: ENSG00000099139; HGNC ID: 8747
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Signalling by NGF
No data
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P00004Alzheimer disease-presenilin pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene 1,4-bis(2-(3,5-dichloropyridyloxy))benzene affects the expression of PCSK5 mRNAaffects expression 18281256
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of PCSK5 mRNAaffects expression 21346803
D006710 Homocysteine Homocysteine results in decreased expression of PCSK5 mRNAdecreases expression 17326132
C006632 arsenic trioxide arsenic trioxide results in increased expression of PCSK5 mRNAincreases expression 15761015
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of PCSK5 mRNAaffects expression 17484886
D016572 Cyclosporine Cyclosporine results in increased expression of PCSK5 mRNAincreases expression 20106945
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of PCSK5 geneincreases mutagenesis 18519639
D005419 Flavonoids Flavonoids results in decreased expression of PCSK5 mRNAdecreases expression 18035473
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PCSK5 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of PCSK5 mRNAincreases expression 18301758
D012643 Selenium Selenium results in decreased expression of PCSK5 mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PCSK5 mRNAdecreases expression 17101203
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PCSK5 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0411752688 14514962 15322242
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3111798837 19825857
MESH:D000236 Adenoma Ethylnitrosourea 3.796695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.5616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.5616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D001006 Anus, Imperforate marker/mechanism 18519639
MESH:D001321 Autistic Disorder Homocysteine 3.0316297937 20468076
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 16.1216206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.1219483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 16.1212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental marker/mechanism 18519639
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001927 Brain Diseases Ethylnitrosourea 5.0114991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.4216357521 16436596 15144691 16651633 18412241
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.4811589617
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9515700767 10355542 15673190 16124888 15721981 16097048 16227642 18705752 3786805 16050911 16011737 16192424
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7016705839
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 4.7015553829 14691202 11135700 16217749 15073043
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.7018788625
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.0919014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2512490120
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418670907 18850075 16120746
MESH:C535348 Caudal regression syndrome marker/mechanism 18519639
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2412371664
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 7.2416003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.2017160924
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Cyclosporine 8.1019486331
MESH:D002779 Cholestasis pirinixic acid 8.1019176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1516354765 15668235 12621046 8697196 15340226
MESH:D003092 Colitis Selenium 3.9517936198
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1817141729 14669216
MESH:D003324 Coronary Artery Disease Homocysteine 3.8016379339
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3512609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.5110525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5120055451 15322242 10048152
MESH:C536221 Currarino triad marker/mechanism 18519639
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.1918551238
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2415213294
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.2921346803 18551238
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 9.296884620 19336974 17522070 7440962 15968718 11566570 10092053 15998439 10915739 3786805 4309450 16227642 21278145 7120509 15027814 19085960 9327722 3732212 2869522 16177239 7179309 6623471
MESH:D056486 Drug-Induced Liver Injury Selenium 9.2915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.2920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.2018357618
MESH:D004487 Edema pirinixic acid 7.0012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.0012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1218230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3412903497
MESH:D017889 Exfoliation Syndrome Homocysteine 5.8916504073
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver arsenic trioxide 19.9615073043
MESH:D005234 Fatty Liver Carbon Tetrachloride 19.9612795759 19224547 61145 16045604 12631006 17595544 15959796 16239168
MESH:D005234 Fatty Liver Cyclosporine 19.9619224547
MESH:D005234 Fatty Liver pirinixic acid 19.9619236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005355 Fibrosis Carbon Tetrachloride 15.7718705752
MESH:D005355 Fibrosis Cyclosporine 15.7712639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 15.7720067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4216904648
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D005901 Glaucoma Homocysteine 5.4416504073
MESH:D005909 Glioblastoma Ethylnitrosourea 3.9216436596
MESH:D005910 Glioma Ethylnitrosourea 3.5416651633 18412241 16357521
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Homocysteine 7.1719638421
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.1711294989 10048152
MESH:D006333 Heart Failure pirinixic acid 7.2220558911
MESH:D006333 Heart Failure Selenium 7.2217162251
MESH:D006343 Heart Septal Defects marker/mechanism 18519639
MESH:D006345 Heart Septal Defects, Ventricular marker/mechanism 18519639
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7619900420 19110552
MESH:D006529 Hepatomegaly 1,4-bis(2-(3,5-dichloropyridyloxy))benzene 15.6216109766
MESH:D006529 Hepatomegaly pirinixic acid 15.6219772884 16221962 19176532 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.6216120746 15340226 12621046
MESH:D006554 Hernia, Umbilical marker/mechanism 18519639
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2616959395 8697196 18606429 15340226 16354765
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7316899240
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D020138 Hyperhomocysteinemia Homocysteine 4.8317292331 18234410 17369066
MESH:D006973 Hypertension Cyclosporine 5.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1018670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.2615338365
MESH:D007249 Inflammation Flavonoids 5.2217296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2212878042 12200463
MESH:D007251 Influenza, Human Selenium 4.4116624496
MESH:D007333 Insulin Resistance pirinixic acid 2.7216306350
MESH:D007569 Jaw Abnormalities marker/mechanism 18519639
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases marker/mechanism 18519639
MESH:D007674 Kidney Diseases Cyclosporine 2.4110903974 8314463 18776723
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.1916705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.1912371664
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 13.1917379185
MESH:D007938 Leukemia arsenic trioxide 2.8915070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9317077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5016972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5314633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9019077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1616968895 19850784 16467208 17050201 20471514
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.309834237 17869043 16823087 15622746 17217047 15748426 16112521 11161223 17107899 15336539 11468182 17649720 19035177 19225113 19642359 16330433 19075265 16331271 15213294 16966277 12712474 12679006 16891316 12018890 17712046
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5116882451
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8816221502 16943688 17334410 11903743 16239168 17157831 11408273 17174718 21278145
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.4617565644 12666154 20821823 15370692 16097048 17721639 12609069 17761835 18472094 18210741 15893842 16015684 15650968 17823541 14748882 12898905 15959796 14512876 18263696 15925388 16033810 18006644 14724832 17698563 14716833 14716496 16136751 12445418 18156304 18279442 12586293 17557913 18395095 16248980 17976157 16638106 18277467 18339082 17766677 15818738 15052691 15730626 17525996 12632514 12741479 17708605 18187930 14620537 18166357 15338365 18418968 17714472 18481824 18205269 17631135 16027843 16192424 15123356 18472332 18054572 12632512 18395914 17481882 18251166 15931870 15673190 17869086 12389079 15876570 12546737 12667390 10355542 12445421 18412020 17640975 17922224 12649538 18376398 18317297 18429990 17944888 17805973 18420326 15362042 16011737 15996030 17900296 13678700 12958196 15057751 18705752 16116963 11481614
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4615474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4612878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1116964402 17285989 15720792 15830285 16246199
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3415123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8216899240 14706259
MESH:D008113 Liver Neoplasms arsenic trioxide 11.0814682389
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 11.0819294768
MESH:D008113 Liver Neoplasms pirinixic acid 11.0815890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.0816984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 10.3020377131
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 10.3012014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.3012151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4615213294
MESH:D038061 Lower Extremity Deformities, Congenital marker/mechanism 18519639
MESH:D008171 Lung Diseases marker/mechanism 18519639
MESH:D008175 Lung Neoplasms arsenic trioxide 3.5819825857 11798837
MESH:D008175 Lung Neoplasms Ethylnitrosourea 3.5816019985 17703301 16271038 6695378
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5819555203 11884234
MESH:D008223 Lymphoma Ethylnitrosourea 4.0415790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.2215375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 6.6610838139 10767621 18041768
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.6615318939
MESH:D008579 Meningioma Ethylnitrosourea 6.2017943659
MESH:D008591 Meningomyelocele Homocysteine 5.7116602021
MESH:D008654 Mesothelioma Selenium 2.8415107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D009056 Mouth Abnormalities marker/mechanism 18519639
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2014977855 11468182 19417148 19549372 15949261
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.8918349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2216105982 16882451
MESH:D009203 Myocardial Infarction Homocysteine 6.1717412321
MESH:D009203 Myocardial Infarction pirinixic acid 6.1719151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0516411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.0518551238
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1216624393
MESH:D009369 Neoplasms pirinixic acid 2.0117405874
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.5816707424
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4119348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2010525206
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.6117160924 16003739 16651423
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.5616049721 12819281
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.2017160924
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4419769630 16624393 12452020
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5715580305
MESH:D010235 Paraganglioma arsenic trioxide 4.3119927285
MESH:D010300 Parkinson Disease Homocysteine 3.6216275827
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3811896295 11118676 11222880 11399792
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2519131511
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1216646077
MESH:D012559 Schizophrenia Homocysteine 3.1216641680
MESH:D012640 Seizures 2,4-dinitrotoluene 2.6218551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.3515790496
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.1919014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.1515213294
MESH:D014138 Tracheoesophageal Fistula marker/mechanism 18519639
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.2516049721
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.2520435036 12973940 12845720 11780464
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.5110091137
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:C536534 VATER association marker/mechanism 18519639
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
Pathway ID Pathway Name
REACT:11061 Signalling by NGF
Pharmacogenomics Knowledge Base Top
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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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