AutismKB 2.0

Annotation Detail for RBM47


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Basic Information Top
Gene Symbol:RBM47 ( DKFZp686F02235,FLJ20273,FLJ21344,FLJ21643,NET18 )
Gene Full Name: RNA binding motif protein 47
Band: 4p14
Quick LinksEntrez ID:54502; OMIM: NA; Uniprot ID:RBM47_HUMAN; ENSEMBL ID: ENSG00000163694; HGNC ID: 30358
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 increased expression of RBM47 mRNAincreases expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of RBM47 mRNAdecreases expression 20106945
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of RBM47 mRNA]affects reaction|decreases expression 19482888
D010634 Phenobarbital Phenobarbital results in decreased expression of RBM47 mRNAdecreases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of RBM47 mRNAincreases expression 19270015
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 4.186195326
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 4.7117620307
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9920146248 17474063
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 1.9517173139 6705139 1701930 20007298 20935162
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1420419170
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.904080065
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D004421 Dystonia Phenobarbital 4.531851702
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.763659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.7411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 3.0820417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.966401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.907750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.763659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D005234 Fatty Liver Cyclosporine 3.3419224547
MESH:D005355 Fibrosis Cyclosporine 3.7912639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8520471113
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006529 Hepatomegaly Phenobarbital 4.1316109766
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.568314463 18776723 10903974
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D008103 Liver Cirrhosis Phenobarbital 3.1021047994
MESH:D008107 Liver Diseases Phenobarbital 2.2519363144
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.9921137059 20195826
MESH:D008113 Liver Neoplasms Phenobarbital 4.998742319 19482888 19812893 21047994 15975961 19073162
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.9518308698 17172636 6150874 2563599 1399818
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5720064080 20464547 20135361 17053015 6695378 18569708 18816296 18520028 20869020
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.2217484760
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3511141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7018481113 19348381
MESH:D010018 Osteomalacia Phenobarbital 5.1117016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6116965848
MESH:D011230 Precancerous Conditions Cyclosporine 10.3812371664
MESH:D011230 Precancerous Conditions Phenobarbital 10.382563599
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9017292933
MESH:D019310 Pseudolymphoma Phenobarbital 5.3612752131
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D012640 Seizures Phenobarbital 2.973137016 16876388 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.566407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5410029692 19755658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.391399818
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3117053015
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
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