AutismKB 2.0

Annotation Detail for RABEP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RABEP1 ( RAB5EP,RABPT5 )
Gene Full Name: rabaptin, RAB GTPase binding effector protein 1
Band: 17p13.2
Quick LinksEntrez ID:9135; OMIM: 603616; Uniprot ID:RABE1_HUMAN; ENSEMBL ID: ENSG00000029725; HGNC ID: 17677
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
D000643 Ammonium Chloride Ammonium Chloride affects the expression of RABEP1 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of RABEP1 mRNAdecreases expression 20064835
D016572 Cyclosporine Cyclosporine results in increased expression of RABEP1 mRNAincreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of RABEP1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of RABEP1 mRNAaffects cotreatment|increases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of RABEP1 mRNAdecreases expression 15576828
D037742 Nanotubes, Carbon Nanotubes, Carbon results in increased expression of RABEP1 mRNAincreases expression 15585362
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of RABEP1 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 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3920464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3914692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
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 Benzo(a)pyrene 1.8720146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1220419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218850075 16120746 18670907
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7312371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Cyclosporine 8.5519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.5517333356 16919318 17110522 11677210 17681005 15861022 16105132
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2116354765 15340226 12621046 15668235 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
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 9.9112639820 12168785
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 Benzo(a)pyrene 6.9320471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9311294989 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 15340226 16959395 16354765 18606429
MESH:D006973 Hypertension Cyclosporine 5.2810903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2818850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5018776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0012371664
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.6621137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2517053015 18816296 20135361 18569708 20869020 20464547 18520028 6695378 20064080
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2519555203 11884234
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3011141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5719348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
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 3.6511896295 11222880 11118676 11399792
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9217292933
MESH:D011537 Pruritus Ethinyl Estradiol 3.7715861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
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 Benzo(a)pyrene 2.2817053015
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 3.8714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
Pathway ID Pathway Name
KEGG:04144 Endocytosis
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (e.g. CHD8)

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved