AutismKB 2.0

Annotation Detail for CNTN1


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Basic Information Top
Gene Symbol:CNTN1 ( F3,GP135 )
Gene Full Name: contactin 1
Band: 12q12
Quick LinksEntrez ID:1272; OMIM: 600016; Uniprot ID:CNTN1_HUMAN; ENSEMBL ID: ENSG00000018236; HGNC ID: 2171
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04514Cell adhesion molecules (CAMs)
Pathway IDPathway Name
Axon guidance
Pathway IDPathway Name
200013Notch signaling pathway
No data
Pathway IDPathway Name
500097L1CAM interactions
Related Diseases/Disorders Top
No data
No data
Desease Name
protein quantitative trait loci
No data
Desease Name
Myopathy, congenital, Compton-North
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C010914 2,4-diaminotoluene 2,4-diaminotoluene results in increased expression of CNTN1 mRNAincreases expression 20713471
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CNTN1 mRNAaffects expression 16483693
D008713 Methimazole Methimazole results in increased expression of CNTN1 mRNAincreases expression 17403546
D008748 Methylcholanthrene Methylcholanthrene results in increased expression of CNTN1 mRNAincreases expression 20713471
D009151 Mustard Gas Mustard Gas results in increased expression of CNTN1 mRNAincreases expression 15674843
C494474 perchlorate perchlorate results in increased expression of CNTN1 mRNAincreases expression 17403546
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CNTN1 mRNAaffects binding|decreases expression|increases activity 19710929
D011441 Propylthiouracil Propylthiouracil results in increased expression of CNTN1 mRNAincreases expression 17403546
D013974 Thyroxine Thyroxine affects the expression of CNTN1 mRNAaffects expression 17403546
C024746 tobacco tar tobacco tar results in decreased expression of CNTN1 mRNAdecreases expression 19559774
C025643 vinclozolin vinclozolin affects the expression of CNTN1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000236 Adenoma Methylcholanthrene 3.5710545420 6695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.6716434500
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
MESH:D001249 Asthma Mustard Gas 2.7510378619
MESH:D050197 Atherosclerosis Methylcholanthrene 3.5311922910
MESH:D001768 Blister Mustard Gas 5.3519167455
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.6919483382
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 9.6919483382
MESH:D001943 Breast Neoplasms 2,4-diaminotoluene 2.7311921183
MESH:D001943 Breast Neoplasms Methylcholanthrene 2.7317474063
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.3515286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.1917687719 10378619
MESH:D002277 Carcinoma Methylcholanthrene 4.0810545420
MESH:D006332 Cardiomegaly Thyroxine 4.1718093424
MESH:D002471 Cell Transformation, Neoplastic Methylcholanthrene 7.6816192471
MESH:D002471 Cell Transformation, Neoplastic tobacco tar 7.6819559774
MESH:D002779 Cholestasis pirinixic acid 2.9319176532
MESH:D003456 Cryptorchidism vinclozolin 4.5014966744
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D004487 Edema Mustard Gas 7.3511402378 11428631 11428647 9260866
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004890 Erythema Mustard Gas 5.359357497
MESH:D005234 Fatty Liver pirinixic acid 2.9020131406 19236843
MESH:D005354 Fibrosarcoma Methylcholanthrene 5.1310962813 14633661
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D006042 Goiter perchlorate 5.4518801409
MESH:D006333 Heart Failure pirinixic acid 2.6220558911
MESH:D006529 Hepatomegaly pirinixic acid 3.1719772884 16221962 19176532 18467677
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D006980 Hyperthyroidism Methimazole 5.7814678291
MESH:D007037 Hypothyroidism Methimazole 12.5518031379
MESH:D007037 Hypothyroidism Propylthiouracil 12.5518031379 8137927
MESH:D007248 Infertility, Male vinclozolin 3.1316467254
MESH:D007249 Inflammation Mustard Gas 2.8517524151 9260866 9357497 11428631 8975870 11428620 16001271 11428647 11402378
MESH:D007333 Insulin Resistance pirinixic acid 2.7216306350
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.8620007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental Methylcholanthrene 3.361399818 598648
MESH:D008171 Lung Diseases Mustard Gas 3.5418161513 18702808
MESH:D008175 Lung Neoplasms Methylcholanthrene 2.8716271038 21163286 15390079 10545420 7750092 11893704 16337739 20512841 20970405 17909032 1399818 6695378 9230183
MESH:D008175 Lung Neoplasms Mustard Gas 2.878781369 3148597
MESH:D008325 Mammary Neoplasms, Experimental 2,4-diaminotoluene 3.6611921183
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0516411023
OMIM:612540 MYOPATHY, CONGENITAL, COMPTON-NORTH marker/mechanism
MESH:D009369 Neoplasms pirinixic acid 2.0117405874
MESH:D009503 Neutropenia Mustard Gas 4.1216761898 7688884
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D011041 Poisoning Mustard Gas 3.9415727166
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.0919015723 18042343 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D011537 Pruritus Mustard Gas 4.2918058305
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9717620002 17894541 17266442 10334151 17720292
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D012871 Skin Diseases Mustard Gas 2.7412880345 16961503 15451306
MESH:D013959 Thyroid Diseases Thyroxine 5.8619910387
MESH:D013964 Thyroid Neoplasms Propylthiouracil 3.7915710170
Pathway ID Pathway Name
REACT:18266 Axon guidance
KEGG:04514 Cell adhesion molecules (CAMs)
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26685
    • No data
    Releated disease ID Related disease Name
    PA444997Muscular Diseases
    PA447109Myopathies, Structural, Congenital
    PA443690Charcot-Marie-Tooth Disease
    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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