AutismKB 2.0

Annotation Detail for EPB41


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Basic Information Top
Gene Symbol:EPB41 ( 4.1R,EL1,HE )
Gene Full Name: erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
Band: 1p35.3
Quick LinksEntrez ID:2035; OMIM: 130500; Uniprot ID:41_HUMAN; ENSEMBL ID: ENSG00000159023; HGNC ID: 3377
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04530Tight junction
No data
Pathway IDPathway Name
200164Syndecan-2-mediated signaling events
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Hematologic diseases
H00231Hereditary elliptocytosis
Desease IDDesease Name
1768Ependymoma
2151Neuroblastoma
2191Meningioma
No data
No data
Desease Name
Elliptocytosis-1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in increased expression of EPB41 mRNAincreases expression 20106945
C014347 decitabine decitabine affects the expression of EPB41 mRNAaffects expression 17145863
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of EPB41 mRNAaffects binding|increases activity|increases expression 19710929
C009277 sodium arsenate sodium arsenate results in increased expression of EPB41 mRNAincreases expression 16882884
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:D001943 Breast Neoplasms decitabine 2.5319208741 18320071
MESH:D002294 Carcinoma, Squamous Cell decitabine 2.6819215824
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7912371664
MESH:D002779 Cholestasis Cyclosporine 8.7419486331
MESH:D002779 Cholestasis pirinixic acid 8.7419176532
MESH:D003110 Colonic Neoplasms decitabine 2.3817616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1118981723
MESH:D019465 Craniofacial Abnormalities sodium arsenate 2.7310525206
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D056486 Drug-Induced Liver Injury sodium arsenate 3.0818186108
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D004612 Elliptocytosis, Hereditary marker/mechanism
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.8419294695
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:D018149 Glucose Intolerance sodium arsenate 5.5419446573
MESH:D006258 Head and Neck Neoplasms decitabine 3.7419215824
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006529 Hepatomegaly pirinixic acid 3.5516221962 18467677 19176532 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006973 Hypertension Cyclosporine 2.2110903974
MESH:D007248 Infertility, Male decitabine 3.4517581917
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5418776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D007938 Leukemia decitabine 3.2419235587 18980019
MESH:D007951 Leukemia, Myeloid decitabine 4.4319117987 18454857 17236224
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.4319387464 19010910 18206229 18460780 18704418 17679729
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 6.1918055864
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9316377806 20007298 15890375
MESH:D008223 Lymphoma decitabine 3.6919470736
MESH:D008545 Melanoma marker/mechanism 17145863
MESH:D008545 Melanoma decitabine 2.2816505122 17785578
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D009101 Multiple Myeloma decitabine 3.6218172295
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009139 Musculoskeletal Abnormalities sodium arsenate 5.2818186108
MESH:D009190 Myelodysplastic Syndromes decitabine 3.5819157545 18608210 19010910 16882708
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009369 Neoplasms decitabine 5.5919116145 17925555 19470736
MESH:D009369 Neoplasms pirinixic acid 5.5917405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6518481113 19348381
MESH:D009436 Neural Tube Defects sodium arsenate 4.2010525206 19446573 11749123 18186108
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010051 Ovarian Neoplasms decitabine 2.7419259094 19331143
MESH:D010190 Pancreatic Neoplasms decitabine 2.8719294695
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D055728 Primary Myelofibrosis decitabine 5.2917616702
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012208 Rhabdomyosarcoma decitabine 4.8719155313
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D013964 Thyroid Neoplasms decitabine 3.6317967635
MESH:D001749 Urinary Bladder Neoplasms decitabine 2.8417616700 19087683
MESH:D014604 Uveal Neoplasms decitabine 5.6417785578
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
Pathway ID Pathway Name
KEGG:04530 Tight junction
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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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