AutismKB 2.0

Annotation Detail for MUM1L1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MUM1L1 ( FLJ33516,MGC129994,MGC129995 )
Gene Full Name: melanoma associated antigen (mutated) 1-like 1
Band: Xq22.3
Quick LinksEntrez ID:139221; OMIM: NA; Uniprot ID:MUML1_HUMAN; ENSEMBL ID: ENSG00000157502; HGNC ID: 26583
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
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of MUM1L1 mRNAdecreases expression 20713471
D016572 Cyclosporine Cyclosporine results in decreased expression of MUM1L1 mRNAdecreases expression 20106945
D004041 Dietary Fats Dietary Fats results in increased expression of MUM1L1 mRNAincreases expression 18042831
C041786 palm oil palm oil results in increased expression of MUM1L1 mRNAincreases expression 18042831
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of MUM1L1 mRNAaffects binding|decreases expression|increases activity 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of MUM1L1 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 11752688 14514962
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.4916434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.4916835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001161 Arteriosclerosis Dietary Fats 4.3115238619
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.8719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.8712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8020146248 17474063
MESH:D001943 Breast Neoplasms Dietary Fats 1.8020435547
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8020435547
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 8.5319486331
MESH:D002779 Cholestasis pirinixic acid 8.5319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2112621046 8697196 15340226 16354765 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
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:D050171 Dyslipidemias Dietary Fats 3.6718367378
MESH:D004487 Edema pirinixic acid 7.6312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.6311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4216714409 15322242 18230668
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 15.0319224547
MESH:D005234 Fatty Liver Dietary Fats 15.0317967931 19551842 19004024 18296743
MESH:D005234 Fatty Liver pirinixic acid 15.0319236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Cyclosporine 17.3012168785 12639820
MESH:D005355 Fibrosis Dietary Fats 17.3018296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 17.3020067830
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:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly pirinixic acid 9.6916221962 19176532 19772884 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.6915340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716959395 18606429 16354765 15340226 8697196
MESH:D006937 Hypercholesterolemia Dietary Fats 3.9221332399
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.9721332399
MESH:D006973 Hypertension Cyclosporine 5.2810903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2818670907 18850075
MESH:D007249 Inflammation Dietary Fats 5.4020412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.4012878042 12200463
MESH:D007333 Insulin Resistance Dietary Fats 7.8918457598 11836018
MESH:D007333 Insulin Resistance pirinixic acid 7.8916306350
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:D008103 Liver Cirrhosis Dietary Fats 3.0318296743
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2112878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.9021137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 7.9020007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2520064080 18569708 17053015 20464547 6695378 18816296 20869020 20135361 18520028
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2511884234 19555203
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.2811141357
MESH:D009369 Neoplasms pirinixic acid 5.2817405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009765 Obesity Dietary Fats 4.6421332399 20518802 17217161 16723640 20132043 11836018 18457598 18674790 19632207
MESH:D009765 Obesity pirinixic acid 4.6420558911
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 3.6511118676 11896295 11399792 11222880
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9217292933
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9019755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2817053015
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
MESH:D015430 Weight Gain Dietary Fats 4.0216723640
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
No data
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