AutismKB 2.0

Annotation Detail for SH3GLB1


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Basic Information Top
Gene Symbol:SH3GLB1 ( Bif-1,KIAA0491,dJ612B15.2 )
Gene Full Name: SH3-domain GRB2-like endophilin B1
Band: 1p22.3
Quick LinksEntrez ID:51100; OMIM: 609287; Uniprot ID:SHLB1_HUMAN; ENSEMBL ID: ENSG00000097033; HGNC ID: 10833
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SH3GLB1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of SH3GLB1 mRNAincreases expression 20406850
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of SH3GLB1 mRNAdecreases expression 15336504
D016572 Cyclosporine Cyclosporine results in increased expression of SH3GLB1 mRNAincreases expression 20106945
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SH3GLB1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SH3GLB1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3111752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.0816705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.0816705839
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.276135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2712371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Cyclosporine 8.5519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.5516919318 15861022 11677210 17110522 17681005 17333356 16105132
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2112621046 8697196 16354765 15340226 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.3218551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.3218551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.6221346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.6221346803 18551238
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Cyclosporine 8.6819224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.6815345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Cyclosporine 9.9112168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.9120067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3115340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.578697196 16959395 18606429 16354765 15340226
MESH:D006973 Hypertension Cyclosporine 5.2810903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2818670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.508314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.9716705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.9716705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.9712371664
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.707678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7016984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.342876786 6135515 2876784
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3412151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.9418551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.947678174 18551238
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5719348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.9216049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.9216049721
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11118676 11222880 11896295
MESH:D011537 Pruritus Ethinyl Estradiol 3.7715861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.5618551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.5618551238
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 6.028532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0216192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3616049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.3616049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.5810091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.5810091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8715869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
Pathway ID Pathway Name
KEGG:04144 Endocytosis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35739
    • No data
    Releated disease ID Related disease Name
    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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