AutismKB 2.0

Annotation Detail for REC8


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Basic Information Top
Gene Symbol:REC8 ( HR21spB,MGC950,REC8L1,Rec8p )
Gene Full Name: REC8 homolog (yeast)
Band: 14q12
Quick LinksEntrez ID:9985; OMIM: 608193; Uniprot ID:REC8_HUMAN; ENSEMBL ID: ENSG00000100918; HGNC ID: 16879
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04114Oocyte meiosis
Pathway IDPathway Name
Cell Cycle, Mitotic
DNA Replication
No data
No data
Pathway IDPathway Name
500976Mitotic Prometaphase
500868Mitotic Metaphase/Anaphase Transition
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1823Infertility, Male
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of REC8 mRNAaffects expression 17562736
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of REC8 mRNAaffects cotreatment|increases expression 17942748
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of REC8 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of REC8 mRNAincreases expression 19270015
19482888
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of REC8 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 10.486195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.4815322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell Phenobarbital 12.2817620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 12.2816835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.023084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.026705139 17173139 1701930 20935162 20007298
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.814080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1716919318 17333356 16105132 17681005 17110522 11677210 15861022
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2415340226 16354765 12621046 15668235 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 15322242 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8616485898 18713872 16781746 17906064 19370779 10774834 16393943 11287661 19164858 19923254 12705907 19739265 12594235 12540782 16177239 2444490 15968718 10915739 11461765 11529661 12958197 14550746 17522070 10663392 17562736 12153990 16081117 15619225 11834606 19420014 14986274 11739529 16109766 11743745 19416960 12392966 16227642 14725611 19085960 11421492 18071297
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8620420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004421 Dystonia Phenobarbital 4.471851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4210568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.673659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.5911558140 3922381
MESH:D004827 Epilepsy Phenobarbital 3.0620417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.916401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.817750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.653659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.2415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5110048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Phenobarbital 10.3816109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 10.3815340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7716354765 18606429 8697196 15340226 16959395
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0821047994
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 4.2012969438 16610002 19014921 12587719 19460945 11587558 16611625 19784758
MESH:D008107 Liver Diseases Phenobarbital 4.2019363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms Phenobarbital 4.8319812893 19073162 15975961 19482888 21047994 8742319
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8316984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.5617172636 2563599 1399818 6150874 18308698
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5612151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008545 Melanoma marker/mechanism 16778180
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.1117484760
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D010018 Osteomalacia Phenobarbital 5.0017016548
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6016965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.992563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211399792 11118676 11222880 11896295
MESH:D011471 Prostatic Neoplasms marker/mechanism 17013881
MESH:D011537 Pruritus Ethinyl Estradiol 3.9415861022 16919318
MESH:D019310 Pseudolymphoma Phenobarbital 5.2212752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012640 Seizures Phenobarbital 2.9516876388 3137016 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.456407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.361399818
MESH:D014581 Urticaria Acetaminophen 3.4410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
Pathway ID Pathway Name
REACT:152 Cell Cycle, Mitotic
REACT:383 DNA Replication
KEGG:04114 Oocyte meiosis
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


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