AutismKB 2.0

Annotation Detail for PCSK1N


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Basic Information Top
Gene Symbol:PCSK1N ( PROSAAS,SAAS )
Gene Full Name: proprotein convertase subtilisin/kexin type 1 inhibitor
Band: Xp11.23
Quick LinksEntrez ID:27344; OMIM: 300399; Uniprot ID:PCSK1_HUMAN; ENSEMBL ID: ENSG00000102109; HGNC ID: 17301
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1740Alzheimer's disease
2035Brain disease
2198Psychotic disorder
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PCSK1N mRNAaffects expression 16483693
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of PCSK1N mRNAaffects cotreatment|decreases expression 20360939
D003024 Clozapine Clozapine affects the expression of PCSK1N mRNAaffects expression 14647396
D016572 Cyclosporine Cyclosporine results in increased expression of PCSK1N mRNAincreases expression 20106945
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of PCSK1N mRNAaffects cotreatment|decreases expression 20360939
D006220 Haloperidol Haloperidol results in increased expression of PCSK1N mRNAincreases expression 14647396
D009020 Morphine Morphine results in increased expression of PCSK1N mRNAincreases expression 20144693
D005996 Nitroglycerin Nitroglycerin results in decreased expression of PCSK1N mRNAdecreases expression 12102619
D014635 Valproic Acid Valproic Acid results in increased expression of PCSK1N mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.778875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1319490988
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000236 Adenoma Diethylnitrosamine 2.966695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.1817162532 16434500 18056438 19061943 19052882 17620307
MESH:D000380 Agranulocytosis Clozapine 5.3112649775 14617031 16160616
MESH:D000550 Amblyopia Valproic Acid 5.5517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.7417497229
MESH:D001321 Autistic Disorder Haloperidol 2.3419368416 18080171
MESH:D001321 Autistic Disorder Valproic Acid 2.3418775368 18985861 20603192 18316065 18396377 17157402 19232924 17688650 18940202 17507914 18177632 15238991 19460635 18558336 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.1720046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.528888407
MESH:D002545 Brain Ischemia Morphine 5.4319211983
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.2117474063
MESH:D003528 Carcinoma, Adenoid Cystic marker/mechanism 16762588
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 1.8616288022 18210153 20512989 19335982 17978847 19107877 19171122 19383236 20214788 19519916 20727157 17761372 19208518 20007298 16569478 3581430 17138121 20084675 19701751 20524982 20514400 20432363 16878318 18494052 17055752 17428255 18978308 18691550 16830150 16681979 19919837 18056438 17173139 18971187 16502159 21159647 16698587 10737359 18788625 18665156 10672840 11831363 16935385 18785209 16540662 18393292 18506893 16779866 19539802 19394651 3084413 19418558 16328049 20935162 19822196 20101231 19052882 16807293 17162532
MESH:D002375 Catalepsy Haloperidol 5.1915215559 1977408
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.0612371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.0617174075 7505956 2727394 21159647
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7720734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.8719052882
MESH:D002779 Cholestasis Cyclosporine 3.0619486331
MESH:D003072 Cognition Disorders Clozapine 5.2217123785
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 8888407 16575769
MESH:D016757 Death, Sudden, Cardiac Haloperidol 5.0620210726
MESH:D003704 Dementia Haloperidol 4.7811575062
MESH:D003924 Diabetes Mellitus, Type 2 Clozapine 4.8416402076
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.8420387270
MESH:D003967 Diarrhea Morphine 4.752540324
MESH:D006970 Disorders of Excessive Somnolence Clozapine 5.8715331141
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 4.1319107877
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.131733752 19641884
MESH:D050171 Dyslipidemias Clozapine 4.3316402076
MESH:D004421 Dystonia Valproic Acid 4.271851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.413659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.2316628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0318234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.777562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.567750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.353659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4416302075
MESH:D005234 Fatty Liver Cyclosporine 14.3619224547
MESH:D005234 Fatty Liver Diethylnitrosamine 14.3621071580 20387270
MESH:D005234 Fatty Liver Valproic Acid 14.3614986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.2016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.3718558336 8888407
MESH:D005355 Fibrosis Cyclosporine 3.4012168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006261 Headache Nitroglycerin 5.5111284996 11554966
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006849 Hydrocephalus Valproic Acid 5.1517688650
MESH:D006948 Hyperkinesis Clozapine 5.1916046005
MESH:D006973 Hypertension Cyclosporine 2.1610903974
MESH:D007249 Inflammation Diethylnitrosamine 2.4718785209
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.7810783313
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 6.6615369732
MESH:D007674 Kidney Diseases Cyclosporine 6.6618776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 2.9012371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1816294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 4.1216766008
MESH:D008064 Lipidoses Clozapine 4.1017567588
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9320032147 19638242 18407596 18665156 18522880
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1417034775
MESH:D008113 Liver Neoplasms Diethylnitrosamine 2.3019254457 21071580 21278145 20492335 19294768 16942905 18977376 19256749 19690152 20118626 18644402 18754104 19499222 20452335 20101389 9163691 19638242 18978307 20434301 20405173 20137499 15885732 20583210 19833225 19255062 19090486 19426721 21047994 18648771 19073162 12112319 19551842 19996281 2862719 12771043 19427195 21167192 2422723 15175105 19812893 19850985 10737359 20501860 19642983
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.7518775883 17174075 19539802 17942915 19009564 21159647 18308698 18093689 16842330 19126423 18282651 18164116 17854601 18253720 16267830 3124819 18079962 19004024 18544905 19519916 2563599 9362446
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5817228818
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.7620970405 21163286 20512841 6695378
MESH:D001523 Mental Disorders Clozapine 9.3316856516
MESH:D001523 Mental Disorders Haloperidol 9.3316856516
MESH:D024821 Metabolic Syndrome X Clozapine 4.5819142101
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D008708 Methemoglobinemia Nitroglycerin 4.953537620
MESH:D008881 Migraine Disorders Valproic Acid 3.3318765137 18803445
MESH:D020326 Migraine without Aura Nitroglycerin 5.3614659530
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.238888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2617596541
MESH:D009203 Myocardial Infarction Nitroglycerin 3.8514729435
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.649029167 3581430
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4719348381 18481113
MESH:D009436 Neural Tube Defects Valproic Acid 3.2516359493 8888407
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.5120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4420387270
MESH:D009765 Obesity Clozapine 3.0619142110 18515891
MESH:D010146 Pain Morphine 4.3520225289 15215642 18699797 16273134 6776300 15275824
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4816540662
MESH:D011230 Precancerous Conditions Cyclosporine 9.5612371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.562563599
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.1120603192
MESH:D019310 Pseudolymphoma Valproic Acid 4.8612752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D011595 Psychomotor Agitation Haloperidol 5.2111575062
MESH:D011618 Psychotic Disorders Clozapine 9.6415331141
MESH:D011618 Psychotic Disorders Haloperidol 9.6411575062
MESH:D015427 Reperfusion Injury Morphine 4.2219211983
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4019155313
MESH:D012468 Salivary Gland Neoplasms marker/mechanism 16762588
MESH:D012559 Schizophrenia Clozapine 5.8819369910 20521326 16141801 11763009 20168265 20452607 17123785 18806925 17667964 17726453 20580759 20107430 18855531 20521320 11151749
MESH:D012559 Schizophrenia Haloperidol 5.8819369910 20107430 18513383 1830565
MESH:D012559 Schizophrenia Valproic Acid 5.8819110320 15737665
MESH:D012640 Seizures Valproic Acid 2.873137016 17978042 1511512 16876388 11044598 15475178 14763951 11738929
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9419490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8612833885
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D017180 Tachycardia, Ventricular Haloperidol 4.9420210726
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.147505956
MESH:D014178 Translocation, Genetic Valproic Acid 5.5517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.813119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.908888407
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D015430 Weight Gain Clozapine 4.6516141801 20107430 16402076 17502770 20521320 20564506
MESH:D015431 Weight Loss Clozapine 5.3617933447
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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