AutismKB 2.0

Annotation Detail for MUM1


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Basic Information Top
Gene Symbol:MUM1 ( EXPAND1,FLJ14868,FLJ22283,HSPC211,MGC131891,MGC163315,MUM-1 )
Gene Full Name: melanoma associated antigen (mutated) 1
Band: 19p13.3
Quick LinksEntrez ID:84939; OMIM: NA; Uniprot ID:MUM1_HUMAN; ENSEMBL ID: ENSG00000160953; HGNC ID: 29641
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of MUM1 mRNAaffects expression 21346803
D016572 Cyclosporine Cyclosporine results in decreased expression of MUM1 mRNAdecreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of MUM1 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of MUM1 mRNAdecreases expression 18445702
C004648 testosterone enanthate testosterone enanthate affects the expression of MUM1 mRNAaffects expression 17440010
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7916705839
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.466135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.4612371664
MESH:D002779 Cholestasis Cyclosporine 8.7419486331
MESH:D002779 Cholestasis pirinixic acid 8.7419176532
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.5818551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0518551238 21346803
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D005234 Fatty Liver Cyclosporine 9.0119224547
MESH:D005234 Fatty Liver pirinixic acid 9.0119236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.7012639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006529 Hepatomegaly pirinixic acid 3.5516221962 19772884 19176532 18467677
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.4717440010
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006973 Hypertension Cyclosporine 2.2110903974
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.548314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.4416705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.4412371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.817678174
MESH:D008113 Liver Neoplasms pirinixic acid 4.8115890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.776135515 2876784 2876786
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.497678174 18551238
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6518481113 19348381
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.8316049721
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7918551238
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4116049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.9510091137
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
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