AutismKB 2.0

Annotation Detail for HPS5


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HPS5 ( AIBP63,KIAA1017 )
Gene Full Name: Hermansky-Pudlak syndrome 5
Band: 11p15.1
Quick LinksEntrez ID:11234; OMIM: 607521; Uniprot ID:HPS5_HUMAN; ENSEMBL ID: ENSG00000110756; HGNC ID: 17022
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
H00166Hermansky-Pudlak syndrome
Inherited disorders of amino acid metabolism
Genetic disorders
No data
No data
No data
Desease Name
Hermansky-Pudlak syndrome 5
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone affects the expression of HPS5 mRNAaffects expression 19483382
D001553 Benzbromarone Benzbromarone affects the expression of HPS5 mRNAaffects expression 19483382
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of HPS5 mRNAincreases expression 17879257
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 HPS5 mRNAdecreases expression 20018196
C006780 bisphenol A bisphenol A results in decreased expression of HPS5 mRNAdecreases expression 20678512
D002994 Clofibrate Clofibrate affects the expression of HPS5 mRNAaffects expression 19483382
D004958 Estradiol Estradiol results in decreased expression of HPS5 mRNAdecreases expression 15223131
D005001 Ethionine Ethionine affects the expression of HPS5 mRNAaffects expression 19483382
D009853 Omeprazole Omeprazole affects the expression of HPS5 mRNAaffects expression 19483382
C006253 pirinixic acid pirinixic acid affects the expression of HPS5 mRNAaffects expression 19483382
D011441 Propylthiouracil Propylthiouracil affects the expression of HPS5 mRNAaffects expression 19483382
D013853 Thioacetamide Thioacetamide affects the expression of HPS5 mRNAaffects expression 19483382
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.2318653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3720127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.3711473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.716695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.6316434500
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2119183758
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9020041841 18218290 18057881
MESH:D001281 Atrial Fibrillation Amiodarone 3.9818651412 19698954
MESH:D001778 Blood Coagulation Disorders Amiodarone 53.0919483382
MESH:D001778 Blood Coagulation Disorders Benzbromarone 53.0919483382
MESH:D001778 Blood Coagulation Disorders Clofibrate 53.0919483382
MESH:D001778 Blood Coagulation Disorders Ethionine 53.0919483382
MESH:D001778 Blood Coagulation Disorders Omeprazole 53.0919483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 53.0919483382
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 53.0919483382
MESH:D001778 Blood Coagulation Disorders Thioacetamide 53.0919483382
MESH:D001862 Bone Resorption bisphenol A 3.9711985600
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8920146248 17474063
MESH:D001943 Breast Neoplasms bisphenol A 1.8917123778
MESH:D001943 Breast Neoplasms Estradiol 1.8914630087 17289903 19861407 12948864 18497071 17261762 16675129 17018787
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6216111702
MESH:D006528 Carcinoma, Hepatocellular Benzbromarone 4.871701930
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.8716924424
MESH:D006528 Carcinoma, Hepatocellular Thioacetamide 4.8717997003
MESH:D002278 Carcinoma in Situ bisphenol A 5.1417123778
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0820419170
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9215710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.2418974383
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.7120889678
MESH:D002471 Cell Transformation, Neoplastic Clofibrate 11.711399818
MESH:D002471 Cell Transformation, Neoplastic Estradiol 11.7118566989
MESH:D002637 Chest Pain Omeprazole 5.2815447763
MESH:D018281 Cholangiocarcinoma Thioacetamide 4.3918291259
MESH:D002779 Cholestasis pirinixic acid 2.9119176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4718249437
MESH:D003928 Diabetic Nephropathies Estradiol 3.5119279558
MESH:D056486 Drug-Induced Liver Injury Amiodarone 4.3618218290 15265979
MESH:D056486 Drug-Induced Liver Injury Thioacetamide 4.3612963478
MESH:D004381 Duodenal Ulcer Omeprazole 4.4517151854 21218061 15991576 16613094
MESH:D050171 Dyslipidemias Clofibrate 4.1416707586
MESH:D004487 Edema pirinixic acid 2.5912083418
MESH:D016889 Endometrial Neoplasms Estradiol 3.0519148513 11473722 18566989
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4320426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4316530937
MESH:D005218 Fat Necrosis Thioacetamide 5.8916456712
MESH:D005234 Fatty Liver Amiodarone 13.8814986274
MESH:D005234 Fatty Liver Clofibrate 13.8819224547
MESH:D005234 Fatty Liver pirinixic acid 13.8820131406 19236843
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7120471113
MESH:D006333 Heart Failure pirinixic acid 2.6020558911
MESH:D006501 Hepatic Encephalopathy Thioacetamide 4.6817276928 18665440 15929193
MESH:D006505 Hepatitis Thioacetamide 4.3416456712
MESH:D006529 Hepatomegaly Amiodarone 9.0415265979
MESH:D006529 Hepatomegaly pirinixic acid 9.0419176532 16221962 19772884 18467677
MESH:D022861 Hermanski-Pudlak Syndrome marker/mechanism
MESH:D006558 Herpes Genitalis Estradiol 5.2115709030
MESH:D019584 Hot Flashes Estradiol 3.9317088409
MESH:D006937 Hypercholesterolemia Amiodarone 3.988137927 9751232
MESH:D006943 Hyperglycemia pirinixic acid 3.2920558911
MESH:D007037 Hypothyroidism Amiodarone 12.0818020914 17991464
MESH:D007037 Hypothyroidism Propylthiouracil 12.0818031379 8137927
MESH:D007333 Insulin Resistance bisphenol A 12.7316393666
MESH:D007333 Insulin Resistance Estradiol 12.7316393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 12.7316306350
MESH:D007674 Kidney Diseases Estradiol 2.6415618244
MESH:D007680 Kidney Neoplasms Estradiol 3.0715610895
MESH:D016773 Leishmaniasis, Cutaneous Omeprazole 4.1919248655
MESH:D008064 Lipidoses Amiodarone 3.5917567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5914716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5915474484
MESH:D008106 Liver Cirrhosis, Experimental Thioacetamide 3.5918031379 15465738 18380797 12557150 17355460 17127702 15288472 12891558 17629604 10677585 18295389 18606216 16248980 16097051 17292413 15288473 18458672 15362042 15716488 12679928 11682029 12175628 15078482 18263696 15158331 15075984 16126171 16511523 15316131 15334695 11172339 18416461 12531686 12085344 18032466 18395095 15095483 17050028 15474484 16343077 14739098 11481614 18615449 16098781 16489207
MESH:D008107 Liver Diseases Thioacetamide 2.7216337175 18374380 15158337
MESH:D017114 Liver Failure, Acute Thioacetamide 4.4115633222 12479984 15313186 17276928
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.4920195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 4.4920007298 15890375 16377806
MESH:D008133 Long QT Syndrome Amiodarone 3.6611989578 15350150 17391786
MESH:D008171 Lung Diseases Amiodarone 3.4412587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.6518516814
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5618520028 17053015 18569708 20869020 18816296 20135361 20464547 20064080 6695378
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6217203775 11807958 11408345 16891317
MESH:D020149 Manganese Poisoning Estradiol 4.6619453300
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2716381670
MESH:D009135 Muscular Diseases pirinixic acid 3.6416239165
MESH:D009181 Mycoses Amiodarone 5.0817974566 12754197
MESH:D009203 Myocardial Infarction pirinixic acid 2.1819151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.5316810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.5316411023
MESH:D009369 Neoplasms Benzo(a)pyrene 4.9911141357
MESH:D009369 Neoplasms pirinixic acid 4.9917405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.8917289903
MESH:D009421 Nervous System Malformations bisphenol A 10.1716427766 11399458
MESH:D009421 Nervous System Malformations Estradiol 10.1716427766 11399458
MESH:D052556 Niemann-Pick Disease, Type C Clofibrate 5.089802331
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D010049 Ovarian Diseases bisphenol A 5.1411985600
MESH:D010051 Ovarian Neoplasms Estradiol 2.2519401270
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.1010548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 10.9220887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.9220887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5217292933
MESH:D011471 Prostatic Neoplasms bisphenol A 2.5216740699
MESH:D011471 Prostatic Neoplasms Estradiol 2.5216740699
MESH:D011629 Puberty, Precocious bisphenol A 4.9410548101
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.8912490602 11597910 12832656
MESH:D015427 Reperfusion Injury pirinixic acid 2.4319058328
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.2418724381
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4110029692 19755658
MESH:D013272 Stomach Diseases Omeprazole 4.7618545984
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013276 Stomach Ulcer Amiodarone 7.9418087811
MESH:D013276 Stomach Ulcer Omeprazole 7.9416755016 18237397 10750652 15991576 11906479 17977527
MESH:D019966 Substance-Related Disorders bisphenol A 4.1416684133 16045194
MESH:D013610 Tachycardia Amiodarone 4.4211238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.3219225199
MESH:D013959 Thyroid Diseases Amiodarone 4.9319731979
MESH:D013964 Thyroid Neoplasms Propylthiouracil 3.7615710170
MESH:D013971 Thyrotoxicosis Amiodarone 5.0018020914 19584973
MESH:D013978 Tibial Fractures Estradiol 4.8619048282
MESH:D016171 Torsades de Pointes Amiodarone 4.3411989578 17467628
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2117053015
MESH:D014591 Uterine Diseases bisphenol A 5.1814652134
No data
Pharmacogenomics Knowledge Base Top
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved