AutismKB 2.0

Annotation Detail for SAV1


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Basic Information Top
Gene Symbol:SAV1 ( SAV,WW45,WWP4 )
Gene Full Name: salvador homolog 1 (Drosophila)
Band: 14q22.1
Quick LinksEntrez ID:60485; OMIM: 607203; Uniprot ID:SAV1_HUMAN; ENSEMBL ID: ENSG00000151748; HGNC ID: 17795
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
D000082 Acetaminophen Acetaminophen affects the expression of SAV1 mRNAaffects expression 17562736
C006632 arsenic trioxide arsenic trioxide results in increased expression of SAV1 mRNAincreases expression 20458559
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 SAV1 mRNAdecreases expression 20018196
D016572 Cyclosporine Cyclosporine results in increased expression of SAV1 mRNAincreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SAV1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of SAV1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SAV1 mRNAaffects cotreatment|increases expression 17942748
C006253 pirinixic acid pirinixic acid results in increased expression of SAV1 mRNAincreases expression 18301758
D013629 Tamoxifen Tamoxifen affects the expression of SAV1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SAV1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9214745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000230 Adenocarcinoma arsenic trioxide 4.4611798837 19825857
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4614692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0516434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.0516835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 16.7416206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.7419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 16.7412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9419189210 18425577 20065188 17242785 19487384 16202921 17049068 19155303 19200415 20005174 16818667 19289846 19103187 20544844 19011961 19115204 19288272 19142967 18997820 18984771 18821012 18351453 17261762 18629630 20390343 11161223 19066611 18855134 21152245 20135344 18815881 19059307 20859285 19189212 16873071 17893378 19244106 19221464 16273361 19084267 21138602 15565566 19410462 17440819 15668708
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5911589617
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8119066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.723084413
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 4.7211135700 16217749 15553829 14691202 15073043
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.7216924424
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.2519014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3512490120
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8417572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 16120746 18670907
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.0920889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.0912371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Cyclosporine 14.3819486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.3815861022 11677210 17110522 17681005 17333356 16919318 16105132
MESH:D002779 Cholestasis pirinixic acid 14.3819176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.198697196 12621046 15668235 15340226 16354765
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D023903 Coronary Restenosis arsenic trioxide 4.4712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.5310525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5310048152 15322242 20055451
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.3615213294
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6719031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6919279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.7510774834 19164858 19085960 19370779 11834606 18713872 12705907 12153990 15619225 19739265 15968718 12594235 16227642 16393943 16109766 11739529 14725611 11743745 16177239 11529661 12392966 10915739 16781746 19416960 16081117 2444490 11421492 19420014 14986274 18071297 12958197 19923254 17522070 10663392 11461765 12540782 17906064 16485898 14550746 11287661 17562736
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.7520420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.9012538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.9019031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1917893378 19155303 16202921 20544844
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6320426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.6312903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver arsenic trioxide 27.4415073043
MESH:D005234 Fatty Liver Cyclosporine 27.4419224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 27.4415345470
MESH:D005234 Fatty Liver pirinixic acid 27.4420131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 27.4414986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3716709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5219069698
MESH:D005355 Fibrosis Cyclosporine 9.5212639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.5220067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5416904648
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.568708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly pirinixic acid 9.3019176532 18467677 19772884 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.3015340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 16959395 18606429 16354765 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006973 Hypertension Cyclosporine 5.2110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2118850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Tamoxifen 5.2619457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2612878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.7816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8215604871
MESH:D007674 Kidney Diseases Acetaminophen 6.2212587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.228314463 18776723 10903974
MESH:D007680 Kidney Neoplasms Cyclosporine 7.9812371664
MESH:D007680 Kidney Neoplasms Tamoxifen 7.9818625569
MESH:D007938 Leukemia arsenic trioxide 2.9315070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0417077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.6416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6014633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.0019077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1717050201 16467208 16968895 20471514 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3619075265 19225113 17107899 17649720 19035177 15336539 16112521 15748426 12712474 12679006 19642359 11161223 11468182 12018890 17712046 17217047 16330433 15213294 9834237 17869043 15622746 16891316 16966277 16823087 16331271
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.6316882451
MESH:D008064 Lipidoses Tamoxifen 3.3215342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5115474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.5118564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5112878042
MESH:D008107 Liver Diseases Acetaminophen 1.6711587558 19460945 19014921 12969438 16610002 12587719 19784758 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4617185352 16871587
MESH:D008113 Liver Neoplasms arsenic trioxide 11.3314682389
MESH:D008113 Liver Neoplasms pirinixic acid 11.3320007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tamoxifen 11.3316684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.3316984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.2720377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5315213294
MESH:D008175 Lung Neoplasms arsenic trioxide 3.5111798837 19825857
MESH:D008175 Lung Neoplasms Tamoxifen 3.5118625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5119555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7614580682 19196723 11731420 19196722 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.9219453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1616801185
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2719417148 19549372 15949261 11468182 14977855
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.0518349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2616882451 16105982
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2416624393
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5819410462
MESH:D009369 Neoplasms pirinixic acid 2.0517405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3819189210 19196722 19200415
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5019348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2610525206
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4716624393 19769630 12452020
MESH:D010146 Pain Acetaminophen 2.5916870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5915580305
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010235 Paraganglioma arsenic trioxide 4.4219927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4412371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311896295 11222880 11118676 11399792
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.1919131511
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1915067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2416646077
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.8516709447
MESH:D013088 Spermatocele Tamoxifen 12.8516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3819457130
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.2719014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.3015213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.3811780464 20435036 12845720 12973940
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.3816712894 8653321 17572228
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D014605 Uveitis Cyclosporine 4.361336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8217120751
No data
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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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