AutismKB 2.0

Annotation Detail for PORCN


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Basic Information Top
Gene Symbol:PORCN ( DHOF,FODH,MG61,MGC29687,PORC,PPN,por )
Gene Full Name: porcupine homolog (Drosophila)
Band: Xp11.23
Quick LinksEntrez ID:64840; OMIM: 300651; Uniprot ID:PORCN_HUMAN; ENSEMBL ID: ENSG00000102312; HGNC ID: 17652
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04310Wnt signaling pathway
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2066Lung cancer
No data
No data
Desease Name
Focal dermal hypoplasia
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PORCN mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PORCN mRNAincreases expression 17942748
C029938 nickel sulfate nickel sulfate results in increased expression of PORCN mRNAincreases expression 16780908
D010634 Phenobarbital Phenobarbital affects the expression of PORCN mRNAaffects expression 19136022
C006253 pirinixic acid NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of PORCN mRNA]decreases expression|increases reaction 17950772
C006253 pirinixic acid pirinixic acid affects the expression of PORCN mRNAaffects expression 19136022
C006253 pirinixic acid pirinixic acid results in decreased expression of PORCN mRNAdecreases expression 17950772
D018038 Sodium Selenite Sodium Selenite results in increased expression of PORCN mRNAincreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.986195326
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.5517505938
MESH:D055371 Acute Lung Injury nickel sulfate 10.5219131640 12718980 11954676 16100012
MESH:D055371 Acute Lung Injury pirinixic acid 10.5218653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.9817620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.9816434500
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8615885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.941701930 6705139 17173139 20007298 20935162
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.744080065
MESH:D002779 Cholestasis Ethinyl Estradiol 8.6217681005 16919318 17110522 16105132 17333356 15861022 11677210
MESH:D002779 Cholestasis pirinixic acid 8.6219176532
MESH:D019457 Chromosome Breakage Sodium Selenite 5.2415894690
MESH:D017449 Dermatitis, Allergic Contact nickel sulfate 4.1511298694 16823706 16780908
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1016285004
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 2.3615131321
MESH:D004421 Dystonia Phenobarbital 4.411851702
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6312538720
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.593659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.4811558140 3922381
MESH:D004827 Epilepsy Phenobarbital 3.0420417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.876401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.747750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.563659116
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.8115345470
MESH:D005234 Fatty Liver pirinixic acid 8.8120131406 19236843
MESH:D005489 Focal Dermal Hypoplasia marker/mechanism 17546030 17546031
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly Phenobarbital 10.1416109766
MESH:D006529 Hepatomegaly pirinixic acid 10.1418467677 19176532 16221962 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7117937319
MESH:D007333 Insulin Resistance pirinixic acid 8.0416306350
MESH:D007333 Insulin Resistance Sodium Selenite 8.0414714311
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0721047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Phenobarbital 2.2319363144
MESH:D008113 Liver Neoplasms Phenobarbital 4.838742319 21047994 19073162 19482888 15975961 19812893
MESH:D008113 Liver Neoplasms pirinixic acid 4.8320007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.906150874 17172636 1399818 2563599 18308698
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4614737004
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.0217484760
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010018 Osteomalacia Phenobarbital 4.9017016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5916965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0911578682
MESH:D011230 Precancerous Conditions Phenobarbital 3.952563599
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3418760546
MESH:D011537 Pruritus Ethinyl Estradiol 3.8515861022 16919318
MESH:D019310 Pseudolymphoma Phenobarbital 5.1112752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012640 Seizures Phenobarbital 2.924039156 3137016 16876388 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.366407741
MESH:D013088 Spermatocele Ethinyl Estradiol 4.5516709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4815669648
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.321399818
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.7414692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9115869587 14671159
Pathway ID Pathway Name
KEGG:04310 Wnt signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134906089
    • No data
    Releated disease ID Related disease Name
    PA444200Focal Dermal Hypoplasia
    No data
    Drug Bank Top

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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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