AutismKB 2.0

Annotation Detail for ESPL1


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Basic Information Top
Gene Symbol:ESPL1 ( ESP1,FLJ46492,KIAA0165 )
Gene Full Name: extra spindle pole bodies homolog 1 (S. cerevisiae)
Band: 12q13.13
Quick LinksEntrez ID:9700; OMIM: 604143; Uniprot ID:ESPL1_HUMAN; ENSEMBL ID: ENSG00000135476; HGNC ID: 16856
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
C010914 2,4-diaminotoluene 2,4-diaminotoluene results in increased expression of ESPL1 mRNAincreases expression 20713471
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 ESPL1 mRNAdecreases expression 20382639
19150397
D016572 Cyclosporine Cyclosporine results in decreased expression of ESPL1 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of ESPL1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ESPL1 mRNAaffects cotreatment|increases expression 17942748
D005472 Fluorouracil ESPL1 protein affects the susceptibility to Fluorouracilaffects response to substance 15548681
D008748 Methylcholanthrene Methylcholanthrene results in increased expression of ESPL1 mRNAincreases expression 20713471
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ESPL1 mRNAaffects binding|increases activity|increases expression 19710929
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ESPL1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.5114692618
MESH:D000230 Adenocarcinoma Fluorouracil 4.5117638652
MESH:D000236 Adenoma Methylcholanthrene 3.6210545420 6695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0516434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.0516835633
MESH:D000740 Anemia Fluorouracil 9.4517963324 15504547 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 9.4511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D050197 Atherosclerosis Methylcholanthrene 3.5811922910
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.5919483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms 2,4-diaminotoluene 2.0511921183
MESH:D001943 Breast Neoplasms Fluorouracil 2.0516595493 19217205 16557594 16110121 18357371 15136595 18608205
MESH:D001943 Breast Neoplasms Methylcholanthrene 2.0517474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0520435547
MESH:D002276 Carcinoid Tumor Fluorouracil 5.0416051944
MESH:D002277 Carcinoma Fluorouracil 15.1417121937
MESH:D002277 Carcinoma Methylcholanthrene 15.1410545420
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 15.1416835633
MESH:D003528 Carcinoma, Adenoid Cystic marker/mechanism 16762588
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 2.1117045692 17088986 16332177 17971768 16799960 18930000
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1118695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5518986760 16757204 16280240 17066447
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.1820889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.1812371664
MESH:D002471 Cell Transformation, Neoplastic Methylcholanthrene 12.1816192471
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Cyclosporine 14.3819486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.3817681005 17110522 16105132 15861022 16919318 17333356 11677210
MESH:D002779 Cholestasis pirinixic acid 14.3819176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1912621046 8697196 16354765 15668235 15340226
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2617169374 16510598 17018589 17725105 17016597 15001691 18772588 17287894 17172411 16340194
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0018509181 20501625 16303861 14970324 18383874 18949393 16282729 17401013 17695437 16391804 15148649 15289873 16524972 16331619 17454858 18288408 18802399 17255274 17594712 17094418 18448328 17016601
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D007644 Darier Disease Fluorouracil 5.1316733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
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 4.2815322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6820426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.6815173087 16481741 16337965 16785472 17638652
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Cyclosporine 14.4619224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.4615345470
MESH:D005234 Fatty Liver pirinixic acid 14.4620131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005354 Fibrosarcoma Methylcholanthrene 5.2810962813 14633661
MESH:D005355 Fibrosis Cyclosporine 9.5212168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.5220067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.568708960
MESH:D005910 Glioma Fluorouracil 2.9516145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5418337622 15102660 15162350
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4411294989 10048152
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 16221962 19772884 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.3016120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 16959395 16354765 18606429 15340226
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 Tetrachlorodibenzodioxin 1.9612878042 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 Cyclosporine 2.4618776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 8.0712371664
MESH:D007680 Kidney Neoplasms Fluorouracil 8.0716985049
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1912878042
MESH:D008113 Liver Neoplasms Fluorouracil 7.8316603448 17045692 15113037 18383874
MESH:D008113 Liver Neoplasms pirinixic acid 7.8315890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8316984957
MESH:D008114 Liver Neoplasms, Experimental Methylcholanthrene 6.47598648 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4712151625
MESH:D008175 Lung Neoplasms Fluorouracil 3.6115246190
MESH:D008175 Lung Neoplasms Methylcholanthrene 3.6116337739 9230183 15390079 10545420 20970405 11893704 16271038 7750092 21163286 1399818 6695378 20512841 17909032
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.6111884234 19555203
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.1315086387
MESH:D008325 Mammary Neoplasms, Experimental 2,4-diaminotoluene 3.7211921183
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1616801185
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8116757204 18986760
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
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:D009369 Neoplasms Fluorouracil 5.3416928823 18600527 18239605
MESH:D009369 Neoplasms pirinixic acid 5.3417405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5018481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5916436463
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7319003803 16929163 16500647 15113037
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
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 3.5311399792 11222880 11896295 11118676
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3718626508 19082440
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D012004 Rectal Neoplasms Fluorouracil 4.2318286688 15538739 16160472 18722050
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012468 Salivary Gland Neoplasms marker/mechanism 16762588
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0017522103 17498489 18396642 15786421 16424979 17172411 18567086 19084572 19015929 16951190
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2216280240
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1116803524
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
Pathway ID Pathway Name
KEGG:04110 Cell cycle
KEGG:04114 Oocyte meiosis
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  (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


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