AutismKB 2.0

Annotation Detail for EPB41L3


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Basic Information Top
Gene Symbol:EPB41L3 ( 4.1B,DAL-1,DAL1,FLJ37633,KIAA0987 )
Gene Full Name: erythrocyte membrane protein band 4.1-like 3
Band: 18p11.31
Quick LinksEntrez ID:23136; OMIM: 605331; Uniprot ID:E41L3_HUMAN; ENSEMBL ID: ENSG00000082397; HGNC ID: 3380
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
D001151 Arsenic Arsenic affects the expression of EPB41L3 mRNAaffects expression 18414638
D019256 Cadmium Chloride [sodium arsenite co-treated with Cadmium Chloride co-treated with chromium oxide co-treated with chromous chloride co-treated with lead acetate] results in decreased expression of EPB41L3 mRNAaffects cotreatment|decreases expression 12634122
C023600 chromium oxide [sodium arsenite co-treated with Cadmium Chloride co-treated with chromium oxide co-treated with chromous chloride co-treated with lead acetate] results in decreased expression of EPB41L3 mRNAaffects cotreatment|decreases expression 12634122
C017133 chromous chloride [sodium arsenite co-treated with Cadmium Chloride co-treated with chromium oxide co-treated with chromous chloride co-treated with lead acetate] results in decreased expression of EPB41L3 mRNAaffects cotreatment|decreases expression 12634122
C014347 decitabine decitabine affects the expression of EPB41L3 mRNAaffects expression 17260099
D005047 Etoposide EPB41L3 protein affects the susceptibility to Etoposideaffects response to substance 16217747
C008261 lead acetate [sodium arsenite co-treated with Cadmium Chloride co-treated with chromium oxide co-treated with chromous chloride co-treated with lead acetate] results in decreased expression of EPB41L3 mRNAaffects cotreatment|decreases expression 12634122
D015735 Mifepristone Mifepristone results in increased expression of EPB41L3 mRNAincreases expression 17584828
C017947 sodium arsenite [sodium arsenite co-treated with Cadmium Chloride co-treated with chromium oxide co-treated with chromous chloride co-treated with lead acetate] results in decreased expression of EPB41L3 mRNAaffects cotreatment|decreases expression 12634122
D014284 Triiodothyronine [Triiodothyronine co-treated with Tetrachlorodibenzodioxin] results in decreased expression of EPB41L3 mRNAaffects cotreatment|decreases expression 14761676
D013749 Tetrachlorodibenzodioxin [Triiodothyronine co-treated with Tetrachlorodibenzodioxin] results in decreased expression of EPB41L3 mRNAaffects cotreatment|decreases expression 14761676
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0415322242 11752688 14514962
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5716835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.9215276417
MESH:D018246 Adrenocortical Adenoma Arsenic 14.5317306315
MESH:D018246 Adrenocortical Adenoma sodium arsenite 14.5317306315 16712894
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D020261 Arsenic Poisoning Arsenic 2.9016835338 18414634 12569548 16251483
MESH:D050197 Atherosclerosis Arsenic 3.3319371607 12928151
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D019046 Bone Marrow Neoplasms Etoposide 5.3814601052
MESH:D001943 Breast Neoplasms marker/mechanism 17260099
MESH:D001943 Breast Neoplasms decitabine 1.9918320071 19208741
MESH:D001943 Breast Neoplasms Etoposide 1.9916322251
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9920435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6615504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Arsenic 3.2917306315 16507464
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 3.2917306315 16507464 15276417
MESH:D002294 Carcinoma, Squamous Cell Arsenic 7.8517687452 18922899 15504454
MESH:D002294 Carcinoma, Squamous Cell decitabine 7.8519215824
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 7.8518572023
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.2118640142
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418670907 18850075 16120746
MESH:D002318 Cardiovascular Diseases Arsenic 3.5415738583 17938729 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.4318022660 16973168
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 3.0820056578 19524636
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1515668235 15340226 16354765 8697196 12621046
MESH:D003110 Colonic Neoplasms decitabine 2.3517616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1817141729 14669216
MESH:D019465 Craniofacial Abnormalities lead acetate 2.9719769572
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.9710048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1218230668 16714409 15322242
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.3319294695
MESH:D004715 Endometriosis Mifepristone 9.5916134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.5910568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005317 Fetal Growth Retardation lead acetate 5.5419769572
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1220067830
MESH:D005534 Foot Diseases Arsenic 5.786392382
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.8716452187
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.5819215824
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4010048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0715340226 12621046 16120746
MESH:D006561 Herpes Simplex Etoposide 4.7610809021
MESH:D006689 Hodgkin Disease Etoposide 8.0618180244 17606976 16135485 15147373 16200630
MESH:D006689 Hodgkin Disease sodium arsenite 8.0612676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2618606429 15340226 16354765 8697196 16959395
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.5917050553
MESH:D006973 Hypertension Arsenic 5.3916076760 9931084 11953799
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3918850075 18670907
MESH:D006987 Hypesthesia Arsenic 5.7816093927
MESH:D007248 Infertility, Male decitabine 7.2117581917
MESH:D007248 Infertility, Male sodium arsenite 7.2115346721 12646999
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9212200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007642 Keratosis Arsenic 5.1816930632 12749816
MESH:D007674 Kidney Diseases Cadmium Chloride 6.6816962696
MESH:D007674 Kidney Diseases sodium arsenite 6.6820008137
MESH:D007938 Leukemia decitabine 3.1318980019 19235587
MESH:D007951 Leukemia, Myeloid decitabine 4.1417236224 18454857 19117987
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.4019387464 18206229 17679729 19010910 18704418 18460780
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.6818055864
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.6417339181
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Arsenic 2.5711134558
MESH:D008113 Liver Neoplasms Arsenic 7.7516368122
MESH:D008113 Liver Neoplasms sodium arsenite 7.7516712894 15276417
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1912151625
MESH:D008171 Lung Diseases sodium arsenite 3.2619095001
MESH:D008175 Lung Neoplasms Arsenic 3.5317306315 17976673 19168569
MESH:D008175 Lung Neoplasms sodium arsenite 3.5315276417 16712894 17077188 17306315 19931552
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5319555203 11884234
MESH:D008223 Lymphoma decitabine 8.2319470736
MESH:D008223 Lymphoma Etoposide 8.2312854902 12556972
MESH:D008545 Melanoma decitabine 3.5216505122 17785578
MESH:D008545 Melanoma sodium arsenite 3.5216487513 19082730
MESH:D009101 Multiple Myeloma decitabine 3.4418172295
MESH:D009190 Myelodysplastic Syndromes decitabine 3.4619157545 18608210 19010910 16882708
MESH:D017202 Myocardial Ischemia Arsenic 9.3815371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.3812213967
MESH:D009369 Neoplasms decitabine 5.4317925555 19116145 19470736
MESH:D009369 Neoplasms sodium arsenite 5.4311559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.8420056578
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009436 Neural Tube Defects Arsenic 7.7516620997
MESH:D009436 Neural Tube Defects sodium arsenite 7.7512854658
MESH:D020078 Neurogenic Inflammation Arsenic 4.5217056641
MESH:D010051 Ovarian Neoplasms Arsenic 11.7017306315
MESH:D010051 Ovarian Neoplasms decitabine 11.7019259094 19331143
MESH:D010051 Ovarian Neoplasms Mifepristone 11.7016525653
MESH:D010051 Ovarian Neoplasms sodium arsenite 11.7015276417 17306315
MESH:D010190 Pancreatic Neoplasms decitabine 5.8219294695
MESH:D010190 Pancreatic Neoplasms Etoposide 5.8219003803
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.3416093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.1815371236 6392382 16905509
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3811896295 11399792 11118676 11222880
MESH:D055728 Primary Myelofibrosis decitabine 4.9017616702
MESH:D011471 Prostatic Neoplasms Arsenic 2.7116140617
MESH:D011471 Prostatic Neoplasms Etoposide 2.7117172428
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.7116039940
MESH:D011507 Proteinuria Arsenic 4.1521343184
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012208 Rhabdomyosarcoma decitabine 4.5519155313
MESH:D012512 Sarcoma, Ewing's Etoposide 4.8614601052
MESH:D012871 Skin Diseases Arsenic 2.7817548696 16353154 17050553 17938729 15952646 6392382 19834688 17453740 16702368 16759981 18709164
MESH:D012878 Skin Neoplasms Arsenic 9.8417029826 16251483 17976673 17050553 19538983 15504454
MESH:D012878 Skin Neoplasms sodium arsenite 9.8419524636 18572023
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.8416192470
MESH:D016135 Spinal Dysraphism sodium arsenite 3.9012854658
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms decitabine 3.4317967635
MESH:D001749 Urinary Bladder Neoplasms Arsenic 8.7311144890 15987713 19322015 18640142 17976673 17306315 19429237
MESH:D001749 Urinary Bladder Neoplasms decitabine 8.7319087683 17616700
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 8.7311723127 16712894 16452187 17306315
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.9011813266
MESH:D014604 Uveal Neoplasms decitabine 5.1317785578
MESH:D014652 Vascular Diseases Arsenic 12.5117056641
MESH:D014652 Vascular Diseases sodium arsenite 12.5117056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
Pathway ID Pathway Name
KEGG:04530 Tight junction
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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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