AutismKB 2.0

Annotation Detail for PBRM1


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Basic Information Top
Gene Symbol:PBRM1 ( BAF180,MGC156155,MGC156156,PB1 )
Gene Full Name: polybromo 1
Band: 3p21.1
Quick LinksEntrez ID:55193; OMIM: 606083; Uniprot ID:PB1_HUMAN; ENSEMBL ID: ENSG00000163939; HGNC ID: 30064
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
PSYCH
major mood disorders: bipolar, major depression
Desease Name
Major mood disorders
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C430898 AGN 194204 AGN 194204 results in increased expression of PBRM1 mRNAincreases expression 16339527
D016572 Cyclosporine Cyclosporine results in increased expression of PBRM1 mRNAincreases expression 20106945
D011794 Quercetin Quercetin results in increased expression of PBRM1 proteinincreases expression 15221776
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PBRM1 mRNAincreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4715322242 11752688 14514962
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.6717084956
MESH:D001260 Ataxia Telangiectasia Quercetin 5.6115336622
MESH:D001327 Autoimmune Diseases Quercetin 4.9719761891
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 Quercetin 2.0918628248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0920435547
MESH:D002105 Cadmium Poisoning Quercetin 6.2716962696
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular Quercetin 2.3012508355 19519916
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.5217234771
MESH:D006332 Cardiomegaly Quercetin 7.4519794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.4518670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7912371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis Cyclosporine 3.2119486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.248697196 12621046 16354765 15668235 15340226
MESH:D003110 Colonic Neoplasms Quercetin 2.4716640504 17148506 11134977 19440933 15741050 19056647 17191121
MESH:D015179 Colorectal Neoplasms Quercetin 2.1918852136 18095365
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 4.0819496084
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6215322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4210568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver Cyclosporine 3.2819224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Cyclosporine 18.3112639820 12168785
MESH:D005355 Fibrosis Quercetin 18.3119474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 18.3120067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D005909 Glioblastoma Quercetin 3.6319804834
MESH:D005910 Glioma Quercetin 3.1817643826
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5110048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7715340226 18606429 8697196 16354765 16959395
MESH:D006943 Hyperglycemia Quercetin 4.4318262572 11834736
MESH:D006973 Hypertension Cyclosporine 9.3010903974
MESH:D006973 Hypertension Quercetin 9.3018356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 9.3018850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007251 Influenza, Human Quercetin 5.2316624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007627 Keloid Quercetin 5.5217086741
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Cyclosporine 6.8118776723 10903974 8314463
MESH:D007674 Kidney Diseases Quercetin 6.8116962696
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D007938 Leukemia Quercetin 3.3217468513
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 2.5412741479
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.5412878042
MESH:D008113 Liver Neoplasms Quercetin 4.9618980244
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.9616984957
MESH:D008114 Liver Neoplasms, Experimental Quercetin 6.6919519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.6912151625
MESH:D008175 Lung Neoplasms Quercetin 2.5016280456
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5019555203 11884234
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D009203 Myocardial Infarction Quercetin 3.1219595682
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D015428 Myocardial Reperfusion Injury Quercetin 4.1019207477
MESH:D009369 Neoplasms Quercetin 2.9615185748
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6519348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D020078 Neurogenic Inflammation Quercetin 4.8217929310
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.6819495926
MESH:D010051 Ovarian Neoplasms Quercetin 2.8219005980
MESH:D010190 Pancreatic Neoplasms Quercetin 2.9616965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011230 Precancerous Conditions Cyclosporine 10.3512371664
MESH:D011230 Precancerous Conditions Quercetin 10.3519056647
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211399792 11222880 11118676 11896295
MESH:D011471 Prostatic Neoplasms AGN 194204 3.7016000583
MESH:D011471 Prostatic Neoplasms Quercetin 3.7017292933 14715546
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012554 Schistosomiasis japonica Quercetin 6.2716862918
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D001749 Urinary Bladder Neoplasms Quercetin 2.9216720314
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
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


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