AutismKB 2.0

Annotation Detail for IQSEC1


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Basic Information Top
Gene Symbol:IQSEC1 ( ARFGEP100,KIAA0763 )
Gene Full Name: IQ motif and Sec7 domain 1
Band: 3p25.2
Quick LinksEntrez ID:9922; OMIM: 610166; Uniprot ID:IQEC1_HUMAN; ENSEMBL ID: ENSG00000144711; HGNC ID: 29112
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04144Endocytosis
No data
Pathway IDPathway Name
200060Arf6 signaling events
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of IQSEC1 mRNAdecreases expression 20106945
20064835
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of IQSEC1 mRNAaffects binding|increases activity|increases expression 19710929
D014810 Vitamin E Vitamin E results in increased expression of IQSEC1 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.6319483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9920146248 17474063
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.5816050911
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1420419170
MESH:D002779 Cholestasis pirinixic acid 3.1519176532
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:C538011 Eales disease Vitamin E 5.579068938
MESH:D004487 Edema pirinixic acid 2.9612083418
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D005234 Fatty Liver pirinixic acid 3.2520131406 19236843
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.3620471113
MESH:D006330 Heart Defects, Congenital Vitamin E 7.3616080930
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006529 Hepatomegaly pirinixic acid 3.6419176532 16221962 18467677 19772884
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8216863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.8414716179
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D007251 Influenza, Human Vitamin E 5.0816624496
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007674 Kidney Diseases Vitamin E 3.0312488133
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4815474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4816169303
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.8121137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 4.8120007298 16377806 15890375
MESH:D008171 Lung Diseases Vitamin E 3.4516863852
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.5220064080 20464547 20135361 18816296 6695378 18569708 18520028 17053015 20869020
MESH:D008175 Lung Neoplasms Vitamin E 2.5211062179
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.4411141357
MESH:D009369 Neoplasms pirinixic acid 5.4417405874
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1017292933
MESH:D011471 Prostatic Neoplasms Vitamin E 3.1015084515
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D012871 Skin Diseases Vitamin E 2.5218709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5419755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D020521 Stroke Vitamin E 3.8816517955
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3117053015
Pathway ID Pathway Name
KEGG:04144 Endocytosis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA128394566
    • No data
    Releated disease ID Related disease Name
    PA446847Arrhythmogenic Right Ventricular Dysplasia
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    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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