AutismKB 2.0

Annotation Detail for ESRP2


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Basic Information Top
Gene Symbol:ESRP2 ( FLJ21918,FLJ22248,RBM35B )
Gene Full Name: epithelial splicing regulatory protein 2
Band: 16q22.1
Quick LinksEntrez ID:80004; OMIM: 612960; Uniprot ID:ESRP2_HUMAN; ENSEMBL ID: ENSG00000103067; HGNC ID: 26152
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
D012643 Selenium [Selenium co-treated with Vitamin E] results in increased expression of ESRP2 mRNAaffects cotreatment|increases expression 19244175
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in increased expression of ESRP2 mRNAaffects cotreatment|increases expression 19244175
D014810 Vitamin E Vitamin E results in decreased expression of ESRP2 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.6916050911
MESH:D003092 Colitis Selenium 4.5417936198
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:D056486 Drug-Induced Liver Injury Selenium 2.2715131321
MESH:C538011 Eales disease Vitamin E 5.779068938
MESH:D006330 Heart Defects, Congenital Vitamin E 3.2016080930
MESH:D006333 Heart Failure Selenium 3.3417162251
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8316863852 16490937
MESH:D019584 Hot Flashes Vitamin E 5.0414716179
MESH:D007251 Influenza, Human Selenium 14.9716624496
MESH:D007251 Influenza, Human Vitamin E 14.9716624496
MESH:D007674 Kidney Diseases Vitamin E 3.0512488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.4416518626
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9116169303
MESH:D008171 Lung Diseases Vitamin E 3.4816863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 3.0515318939
MESH:D008654 Mesothelioma Selenium 2.9415107826
MESH:D010954 Plasmacytoma Selenium 5.9615087411
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2315084515
MESH:D012871 Skin Diseases Vitamin E 2.5318709164
MESH:D020521 Stroke Vitamin E 3.9316517955
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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