AutismKB 2.0

Annotation Detail for SH3D19


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Basic Information Top
Gene Symbol:SH3D19 ( EBP,EVE1,Kryn,MGC105136,MGC118910,MGC118911,MGC118912,MGC118913,SH3P19 )
Gene Full Name: SH3 domain containing 19
Band: 4q31.3
Quick LinksEntrez ID:152503; OMIM: 608674; Uniprot ID:SH319_HUMAN; ENSEMBL ID: ENSG00000109686; HGNC ID: 30418
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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No data
Pathway IDPathway Name
Membrane Trafficking
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No data
Pathway IDPathway Name
500014Golgi Associated Vesicle Biogenesis
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 SH3D19 mRNAdecreases expression 20106945
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SH3D19 mRNAdecreases expression 19150397
C006253 pirinixic acid pirinixic acid results in decreased expression of SH3D19 mRNAdecreases expression 18445702
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SH3D19 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4714514962 15322242 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.866695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 12.1016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 12.1016835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.2219483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.2212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8620146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618850075 16120746 18670907
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9820889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis pirinixic acid 3.1219176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2416354765 15668235 12621046 8697196 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 20055451 10048152
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema pirinixic acid 7.9712083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.9711000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6215322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6220426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.6216530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver pirinixic acid 3.1920131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.0520471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.0511294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly pirinixic acid 10.1916221962 18467677 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 10.1915340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.778697196 16959395 16354765 18606429 15340226
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2315474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2312878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 8.0320195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 8.0320007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.0316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3312151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.276695378 17053015 20135361 20464547 20869020 18520028 18569708 18816296 20064080
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2711884234 19555203
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5016381670
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.3911141357
MESH:D009369 Neoplasms pirinixic acid 5.3917405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211896295 11222880 11118676 11399792
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.0010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3017053015
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
Pathway ID Pathway Name
REACT:11123 Membrane Trafficking
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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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