AutismKB 2.0

Annotation Detail for TBC1D30


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Basic Information Top
Gene Symbol:TBC1D30 ( KIAA0984 )
Gene Full Name: TBC1 domain family, member 30
Band: 12q14.3
Quick LinksEntrez ID:23329; OMIM: NA; Uniprot ID:B9A6M9_HUMAN; ENSEMBL ID: ENSG00000111490; HGNC ID: 29164
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
D012643 Selenium Selenium results in decreased expression of TBC1D30 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D003092 Colitis Selenium 4.6917936198
MESH:D056486 Drug-Induced Liver Injury Selenium 2.2815131321
MESH:D006333 Heart Failure Selenium 3.3717162251
MESH:D007251 Influenza, Human Selenium 5.6116624496
MESH:D007676 Kidney Failure, Chronic Selenium 4.5116518626
MESH:D008325 Mammary Neoplasms, Experimental Selenium 3.0815318939
MESH:D008654 Mesothelioma Selenium 2.9515107826
MESH:D010954 Plasmacytoma Selenium 6.3015087411
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