AutismKB 2.0

Annotation Detail for SYNE1


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Basic Information Top
Gene Symbol:SYNE1 ( 8B,ARCA1,C6orf98,CPG2,DKFZp781J13156,EDMD4,FLJ30878,FLJ41140,KIAA0796,KIAA1262,KIAA1756,MYNE1,SCAR8,dJ45H2.2 )
Gene Full Name: spectrin repeat containing, nuclear envelope 1
Band: 6q25.2
Quick LinksEntrez ID:23345; OMIM: 608441; Uniprot ID:SYNE1_HUMAN; ENSEMBL ID: ENSG00000131018; HGNC ID: 17089
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
ovarian cancer
CHEMDEPENDENCY
CANCER
tonometry
alcohol dependence
Desease Name
Tonometry
Bipolar disorder and major depressive disorder (combined)
Desease Name
Emery-Dreifuss muscular dystrophy 4
Spinocerebellar ataxia, autosomal recessive 8
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in decreased expression of SYNE1 mRNAdecreases expression 20406850
C111855 6-formylindolo(3,2-b)carbazole 6-formylindolo(3,2-b)carbazole results in increased expression of SYNE1 mRNAincreases expression 19799885
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SYNE1 mRNAaffects expression 16483693
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of SYNE1 mRNAincreases expression 18687144
D016572 Cyclosporine Cyclosporine results in increased expression of SYNE1 mRNAincreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SYNE1 mRNAdecreases expression 17557909
C006253 pirinixic acid pirinixic acid results in increased expression of SYNE1 mRNAincreases expression 12832660
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.8816434500
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4319483382
MESH:D001943 Breast Neoplasms marker/mechanism 18507500
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7816705839
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.196135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.1912371664
MESH:D002779 Cholestasis Cyclosporine 14.5419486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.5417681005 17110522 16919318 15861022 16105132 17333356 11677210
MESH:D002779 Cholestasis pirinixic acid 14.5419176532
MESH:D015179 Colorectal Neoplasms marker/mechanism 21278247 18507500
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.3818551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0318551238 21346803
MESH:D004487 Edema pirinixic acid 2.7612083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5212538720
MESH:D005234 Fatty Liver Cyclosporine 14.7019224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.7015345470
MESH:D005234 Fatty Liver pirinixic acid 14.7020131406 19236843
MESH:D005355 Fibrosis Cyclosporine 3.5012168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006529 Hepatomegaly pirinixic acid 3.3519772884 19176532 16221962 18467677
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D006973 Hypertension Cyclosporine 2.1810903974
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007333 Insulin Resistance pirinixic acid 2.8016306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.4818776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.0616705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.0612371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.707678174
MESH:D008113 Liver Neoplasms pirinixic acid 4.7015890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.702876786 2876784 6135515
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.3817365036
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2718303189 16966607 16166281
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D020389 Muscular Dystrophy, Emery-Dreifuss marker/mechanism
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.2618551238 7678174
MESH:D009369 Neoplasms pirinixic acid 2.0617405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5318481113 19348381
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7016049721
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.2510923243
MESH:D011230 Precancerous Conditions Cyclosporine 3.4712371664
MESH:D011537 Pruritus Ethinyl Estradiol 3.7115861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1117322281 17365031 15814490 17975199
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7118551238
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3816709447
OMIM:610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 marker/mechanism
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3816049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7110091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8215869587 14671159
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134975331
  • No data
    Releated disease ID Related disease Name
    PA443756Colonic Neoplasms
    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