AutismKB 2.0

Annotation Detail for ESCO1


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Basic Information Top
Gene Symbol:ESCO1 ( A930014I12Rik,CTF,ECO1,EFO1,ESO1,KIAA1911,MGC105022 )
Gene Full Name: establishment of cohesion 1 homolog 1 (S. cerevisiae)
Band: 18q11.2
Quick LinksEntrez ID:114799; OMIM: 609674; Uniprot ID:ESCO1_HUMAN; ENSEMBL ID: ENSG00000141446; HGNC ID: 24645
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
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 ESCO1 mRNAdecreases expression 19150397
D003010 Clorgyline Clorgyline results in increased expression of ESCO1 mRNAincreases expression 19691856
D016572 Cyclosporine Cyclosporine results in increased expression of ESCO1 mRNAincreases expression 20106945
C017947 sodium arsenite sodium arsenite results in decreased expression of ESCO1 mRNAdecreases expression 17998272
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of ESCO1 mRNAaffects expression 18691609
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 14514962 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.3115276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.5117306315 16712894
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
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 Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 2.0016507464 17306315 15276417
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4618572023
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.5620889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.5612371664
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 12.5620056578 19524636
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis Cyclosporine 3.1719486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2215668235 8697196 16354765 15340226 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1420426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Cyclosporine 3.2319224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Cyclosporine 10.1412168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.1420067830
MESH:D005833 Genital Neoplasms, Female sodium arsenite 5.2216452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4910048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3715340226 12621046 16120746
MESH:D006689 Hodgkin Disease sodium arsenite 3.4712676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6616959395 18606429 8697196 15340226 16354765
MESH:D006973 Hypertension Cyclosporine 5.3110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3118670907 18850075
MESH:D007248 Infertility, Male sodium arsenite 3.2115346721 12646999
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 6.638314463 10903974 18776723
MESH:D007674 Kidney Diseases sodium arsenite 6.6320008137
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0412371664
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms sodium arsenite 4.8215276417 16712894
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D008171 Lung Diseases sodium arsenite 3.4019095001
MESH:D008175 Lung Neoplasms sodium arsenite 2.3815276417 17077188 16712894 19931552 17306315
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3819555203 11884234
MESH:D008545 Melanoma sodium arsenite 2.0716487513 19082730
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009369 Neoplasms sodium arsenite 2.6411559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 4.1520056578
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6118481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009436 Neural Tube Defects sodium arsenite 3.3612854658
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.5217306315 15276417
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311399792 11896295 11222880 11118676
MESH:D011471 Prostatic Neoplasms Clorgyline 3.6019691856
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.6016039940
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms sodium arsenite 6.0719524636 18572023
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0716192470
MESH:D016135 Spinal Dysraphism sodium arsenite 4.0712854658
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 2.6216712894 17306315 11723127 16452187
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 4.1111813266
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014652 Vascular Diseases sodium arsenite 4.9617056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
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