AutismKB 2.0

Annotation Detail for EPB49


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Basic Information Top
Gene Symbol:EPB49 ( DMT,FLJ78462,FLJ98848 )
Gene Full Name: erythrocyte membrane protein band 4.9 (dematin)
Band: 8p21.1
Quick LinksEntrez ID:2039; OMIM: 125305; Uniprot ID:DEMA_HUMAN; ENSEMBL ID: ENSG00000158856; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
C017947 sodium arsenite sodium arsenite results in decreased expression of EPB49 proteindecreases expression 19072884
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 6.1215276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 6.3217306315 16712894
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 2.0215276417 16507464 17306315
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4918572023
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 3.3420056578 19524636
MESH:D005833 Genital Neoplasms, Female sodium arsenite 5.7716452187
MESH:D006689 Hodgkin Disease sodium arsenite 3.6712676792
MESH:D007248 Infertility, Male sodium arsenite 3.3315346721 12646999
MESH:D007674 Kidney Diseases sodium arsenite 3.0720008137
MESH:D008113 Liver Neoplasms sodium arsenite 2.5216712894 15276417
MESH:D008171 Lung Diseases sodium arsenite 3.5119095001
MESH:D008175 Lung Neoplasms sodium arsenite 1.9017306315 19931552 16712894 17077188 15276417
MESH:D008545 Melanoma sodium arsenite 2.0816487513 19082730
MESH:D009369 Neoplasms sodium arsenite 2.7111559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 4.5720056578
MESH:D009436 Neural Tube Defects sodium arsenite 3.4712854658
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.5517306315 15276417
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.2216039940
MESH:D012878 Skin Neoplasms sodium arsenite 2.9018572023 19524636
MESH:D016135 Spinal Dysraphism sodium arsenite 4.2212854658
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 2.6616452187 17306315 11723127 16712894
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 4.3411813266
MESH:D014652 Vascular Diseases sodium arsenite 5.5117056641
No data
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  (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