AutismKB 2.0

Annotation Detail for PCSK1


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Basic Information Top
Gene Symbol:PCSK1 ( BMIQ12,NEC1,PC1,PC3,SPC3 )
Gene Full Name: proprotein convertase subtilisin/kexin type 1
Band: 5q15
Quick LinksEntrez ID:5122; OMIM: 162150; Uniprot ID:NEC1_HUMAN; ENSEMBL ID: ENSG00000175426; HGNC ID: 8743
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Diabetes pathways
Hormone biosynthesis
Integration of energy metabolism
Metabolism of amino acids and derivatives
No data
Pathway IDPathway Name
P00003Alzheimer disease-amyloid secretase pathway
P00019Endothelin signaling pathway
P00004Alzheimer disease-presenilin pathway
Pathway IDPathway Name
500768Peptide hormone biosynthesis
500141Synthesis, Secretion, and Deacylation of Ghrelin
500127Diabetes pathways
500128Insulin Synthesis and Processing
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1848Embryoma
1856Obesity
1986Eating disorder
2013Sella turcica tumor
2181Liver metastases
2239Lymphoma
Desease Name
nephropathy, diabetic
RENAL
METABOLIC
obesity
No data
Desease Name
Obesity, susceptibility to, BMIQ12
Obesity with impaired prohormone processing
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PCSK1 mRNAaffects expression 16483693
D001241 Aspirin Aspirin results in decreased expression of PCSK1 mRNAdecreases expression 11906190
C014347 decitabine decitabine affects the expression of PCSK1 mRNAaffects expression 17145863
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PCSK1 mRNAincreases expression 17557909
D009151 Mustard Gas Mustard Gas results in increased expression of PCSK1 mRNAincreases expression 15674843
D014284 Triiodothyronine Triiodothyronine results in decreased expression of PCSK1 mRNAdecreases expression 15291740
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001249 Asthma Mustard Gas 2.7810378619
MESH:D055963 Asthma, Aspirin-Induced Aspirin 4.9712372130 20485159
MESH:D001768 Blister Mustard Gas 5.6219167455
OMIM:612362 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 marker/mechanism
MESH:D001932 Brain Neoplasms Aspirin 4.7215481559
MESH:D001943 Breast Neoplasms Aspirin 2.6215161893
MESH:D001943 Breast Neoplasms decitabine 2.6218320071 19208741
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.6215286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.5017687719 10378619
MESH:D002294 Carcinoma, Squamous Cell decitabine 2.6619215824
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1011677210 16919318 17110522 15861022 17333356 16105132 17681005
MESH:D003110 Colonic Neoplasms Aspirin 4.3012411196
MESH:D003110 Colonic Neoplasms decitabine 4.3017616700
MESH:D015179 Colorectal Neoplasms Aspirin 2.9717047198
MESH:D015179 Colorectal Neoplasms decitabine 2.9718981723
MESH:D004487 Edema Aspirin 8.4917259670
MESH:D004487 Edema Mustard Gas 8.4911428631 11428647 11402378 9260866
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.6419294695
MESH:D004890 Erythema Mustard Gas 5.629357497
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1415345470
MESH:D005909 Glioblastoma Aspirin 4.1412870263
MESH:D006261 Headache Aspirin 5.4815240983
MESH:D006258 Head and Neck Neoplasms decitabine 3.6919215824
MESH:D012001 Hyperacusis Aspirin 6.2815240983
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male decitabine 7.3917581917
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.3917937319
MESH:D007249 Inflammation Mustard Gas 2.9216001271 17524151 11428620 9260866 11428631 9357497 11402378 8975870 11428647
MESH:D007938 Leukemia decitabine 3.2118980019 19235587
MESH:D007951 Leukemia, Myeloid decitabine 4.3317236224 18454857 19117987
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.4217679729 18704418 19010910 19387464 18460780 18206229
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.9818055864
MESH:D008171 Lung Diseases Mustard Gas 3.6518161513 18702808
MESH:D008175 Lung Neoplasms Mustard Gas 2.178781369 3148597
MESH:D008223 Lymphoma decitabine 3.6419470736
MESH:D008545 Melanoma decitabine 2.2816505122 17785578
MESH:D008881 Migraine Disorders Aspirin 4.2815240983
MESH:D009101 Multiple Myeloma decitabine 3.5618172295
MESH:D009190 Myelodysplastic Syndromes decitabine 3.5419157545 18608210 16882708 19010910
MESH:D009203 Myocardial Infarction Aspirin 3.6612692751
MESH:D009325 Nausea Aspirin 5.7315240983
MESH:D009369 Neoplasms decitabine 2.8417925555 19116145 19470736
MESH:D009503 Neutropenia Mustard Gas 4.3216761898 7688884
MESH:D009765 Obesity marker/mechanism 18604207
MESH:D010003 Osteoarthritis Aspirin 4.237009135
MESH:D010051 Ovarian Neoplasms decitabine 2.7219259094 19331143
MESH:D010146 Pain Aspirin 4.116363464 6995502
MESH:D010190 Pancreatic Neoplasms decitabine 2.8519294695
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010438 Peptic Ulcer Hemorrhage Aspirin 6.0011156591
MESH:D020795 Photophobia Aspirin 6.2815240983
MESH:D011041 Poisoning Mustard Gas 4.1515727166
MESH:D055728 Primary Myelofibrosis decitabine 5.1517616702
OMIM:600955 PROPROTEIN CONVERTASE 1/3 DEFICIENCY marker/mechanism
MESH:D011537 Pruritus Ethinyl Estradiol 11.1116919318 15861022
MESH:D011537 Pruritus Mustard Gas 11.1118058305
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0217620002 17894541 17720292 17266442 10334151
MESH:D012208 Rhabdomyosarcoma decitabine 4.7519155313
MESH:D012220 Rhinitis Aspirin 4.6812372130
MESH:D012851 Sinus Thrombosis, Intracranial Aspirin 5.6812269725
MESH:D012871 Skin Diseases Mustard Gas 2.7812880345 15451306 16961503
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D020521 Stroke Aspirin 4.6316403987
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Aspirin 10.1617672075
MESH:D013927 Thrombosis Ethinyl Estradiol 10.1615669648
MESH:D013964 Thyroid Neoplasms decitabine 3.5717967635
MESH:D001749 Urinary Bladder Neoplasms decitabine 2.8219087683 17616700
MESH:D014581 Urticaria Aspirin 4.7910982225 20485159
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D014604 Uveal Neoplasms decitabine 5.4317785578
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
Pathway ID Pathway Name
REACT:15380 Diabetes pathways
REACT:15314 Hormone biosynthesis
REACT:1505 Integration of energy metabolism
REACT:13 Metabolism of amino acids and derivatives
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33089
    • No data
    Releated disease ID Related disease Name
    PA445131Obesity
    No data
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00030 - Insulin recombinant Hypoglycemic Agents
    DB00071 - Insulin, porcine Hypoglycemic Agents
    No data
    No data
    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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