AutismKB 2.0

Annotation Detail for RUFY1


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Basic Information Top
Gene Symbol:RUFY1 ( FLJ22251,RABIP4,ZFYVE12 )
Gene Full Name: RUN and FYVE domain containing 1
Band: 5q35.3
Quick LinksEntrez ID:80230; OMIM: 610327; Uniprot ID:RUFY1_HUMAN; ENSEMBL ID: ENSG00000176783; HGNC ID: 19760
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
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of RUFY1 mRNAaffects expression 21346803
D004041 Dietary Fats Dietary Fats results in increased expression of RUFY1 mRNAincreases expression 18042831
C041786 palm oil palm oil results in increased expression of RUFY1 mRNAincreases expression 18042831
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of RUFY1 mRNAincreases expression 19933214
D014810 Vitamin E Vitamin E results in decreased expression of RUFY1 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3814514962 15322242 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001161 Arteriosclerosis Dietary Fats 4.3715238619
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Dietary Fats 1.9520435547
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9520435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.4116050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7916705839
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.006135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.228697196 12621046 15668235 15340226 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5615322242 20055451 10048152
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5619769572
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.5018551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.9718551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D050171 Dyslipidemias Dietary Fats 3.7018367378
MESH:C538011 Eales disease Vitamin E 5.329068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7412711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5115322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Dietary Fats 3.6119551842 17967931 18296743 19004024
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Dietary Fats 10.2818296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.2820067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.1110048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 7.1116080930
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3716120746 12621046 15340226
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8016863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.5814716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6616354765 18606429 8697196 15340226 16959395
MESH:D006937 Hypercholesterolemia Dietary Fats 3.9721332399
MESH:D006949 Hyperlipidemias Dietary Fats 4.0221332399
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
MESH:D007249 Inflammation Dietary Fats 5.4620412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.4612200463 12878042
MESH:D007251 Influenza, Human Vitamin E 4.8316624496
MESH:D007333 Insulin Resistance Dietary Fats 3.3218457598 11836018
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007674 Kidney Diseases Vitamin E 2.9812488133
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.2816705839
MESH:D008103 Liver Cirrhosis Dietary Fats 3.0518296743
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4212878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4216169303
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.747678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7416984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.422876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4212151625
MESH:D008171 Lung Diseases Vitamin E 3.4016863852
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3919555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 2.3911062179
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.4018551238 7678174
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009765 Obesity Dietary Fats 2.3518457598 18674790 11836018 19632207 20132043 17217161 16723640 21332399 20518802
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7816049721
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311896295 11222880 11118676 11399792
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2515084515
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7618551238
MESH:D012871 Skin Diseases Vitamin E 2.5118709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D020521 Stroke Vitamin E 3.8116517955
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4016049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.8610091137
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D015430 Weight Gain Dietary Fats 4.0616723640
Pathway ID Pathway Name
KEGG:04144 Endocytosis
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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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